EXPERT DDX - Obstetrics - P. Woodward, Et. Al., (Amirsys, 2009) WW PDF

o0
OBSTETRICS
ii
Paula J. Woodward, MD
Professor of Radiology
Adjunct Professor of Obstetrics and Gynecology
University of Utah School of Medicine
Salt Lake City, Utah
Anne Kennedy, MD
Director of Women's Imaging
RO¥r~fe~2~~~~~g~ D
Professor of Obstetrics and Gynecology
Director of Ultrasound
Oregon Heaith & Science University
Portland, Oregon
Karen Y. Oh, MD
Assistant Professor of Radiology
Director of Mammography
Oregon Health & Science University
Portland, Oregon
Janice L. B. Byrne, MD
Associate Professor of Obstetrics & Gynecology
Division of Maternal-Fetal Medicine
Adjunct Associate Professor of Pediatrics
Division of Medical Genetics
Director, University of Utah Fetal-Neonatal Treatment Program
Michael D. Puchalski, MD
Assistant Professor Pediatrics
Adjunct Assistant Professor of Radiology
Director of Noninvasive Imaging
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AMIRSYSe
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We dedicate this book to our patients, the strong and brave pregnant women who trust us during difficult
times. We owe them gratitude, compassion, and expertise.
And to Robert
And the world's loves lost and refound - it is better the second time around!
PfW
v
vi
EXPERTw
OBSTETRICS
D
Once the appropriate technical protocols have been delineated, the best quality images obtained,
and the cases queued up on PACS, the diagnostic responsibility reaches the radiology reading room. The
radiologist must do more than simply "lay words on" but reach a real conclusion. If we cannot reach a
definitive diagnosis, we must offer a reasonable differential diagnosis. A list that's too long is useless; a list
that's too short may be misleading. To be useful, a differential must be more than a rote recitation from
some dusty book or a mnemonic from a lecture way back when. Instead, we must take into account key
imaging findings and relevant clinical information.
With these considerations in mind, we at Amirsys designed our Expert Differential Diagnoses series-
EXPERTddx for short. Leading experts in every subspecialty of radiology identified the top differential
diagnoses in their respective fields, encompassing specific anatomic locations, generic imaging findings,
modality-specific findings, and clinically based indications. Our experts gathered multiple images, both
typical and variant, for each EXPERTddx. Each features at least eight beautiful images that illustrate the
possible diagnoses, accompanied by captions that highlight the pertinent imaging findings. Hundreds
more are available in the eBook feature that accompanies every book. In classic Amirsys fashion, each
EXPERTddx includes bulleted text that distills the available information to the essentials. You'll find
helpful clues for diagnoses, ranked by prevalence as Common, Less Common, and Rare but Important.
Our EXPERTddx series is designed to help radiologists reach reliable-indeed, expert--conclusions.

Whether you are a practicing radiologist or a resident/fellow in training, we think the EXPERTddx series
will quickly become your practical "go-to" reference.
Anne G. Osborn, MD
Executive Vice President and Editor-in-Chief, Amirsys Inc.
Executive Vice President and Medical Director, Amirsys Inc.
vii
viii
PREFACE
When we wrote our first book, Diagnostic Imaging: Obstetrics, we set out to create a comprehensive
resource for fetal imaging. "Our baby" was very well received (thank you!) so why do we need another
book? Although a comprehensive text can give a wealth of in depth information on a given entity,
seldom does the patient present saying "I think my baby has XYZ syndrome". The reality is you see
an abnormality and now must formulate an appropriate differential diagnosis. EXPERTddx: Obstetrics
was designed with that very thought in mind and approaches fetal imaging from a working, clinical
perspective.
There is an old saying in radiology that "the best way to miss a finding is to make a finding". One
becomes so fixated on the obvious finding that the subtle one goes unnoticed, and it is this second finding
that may be the key to the specific diagnosis. We wrote EXPERTddx: Obstetrics to serve as a practical guide
to fetal diagnosis, pointing out which ancillary features are critical to evaluate. It includes many of the
most commonly encountered and frustrating findings with which we are confronted. A fetus has a mildly
short femur, now what? A patient is referred for an elevated MSAFP; after ruling out a neural tube defect,
now what? The face looks funny; if it isn't a proboscis what could it be? Our author team has endeavored
to answer these and over a hundred additional important imaging and clinical presentations encountered
by the interpreting physician.
For each differential there are imaging and clinical pearls helping to distinguish the various diagnoses;
but most importantly, each differential is heavily illustrated, including not only ultrasound, but also fetal
MR and clinical/pathologic correlation. As a group, we pored over these lists and literally thousands of
cases, endeavoring to make them as practical and inclusive as possible, painstakingly choosing illustrations
to best demonstrate the finding. The book is supplemented by an eBook companion that has hundreds
more images, creating one of most comprehensive resources for differential diagnoses.
We are excited about the addition of our "new baby" to .the family. As was true with its older sibling, it
was a labor of love.
ix
x
ACKNOWLEDGMENTS
Text Editing
Douglas Grant Jackson
Ashley R. Renlund, MA
KeJlie J. Heap
Image Editing
Jeffrey J. Marmorstone
Mitch D. Curinga
Medical Text Editing

Erin A. S. Clark, MD
Jennifer E. Warren, MD
Art Direction and Design

Lane R. Bennion, MS
Richard Coombs, MS
Production lead
Melissa A. Hoopes
xi
xii
SECTIONS
First Trimester
Central Nervous System
Face/Neck
Chest
Cardiac
Abdomen
Musculoskeletal
M Itiple Gestations
Placenta & Umbilical Cord
Fluid
Growth a d Well Being
Uterus-Cervix
Maternal Conditions in Pregnancy
Postpartum Complications
xiii
Macrocephaly 2-46
SECTION 1 Anne Kemledy, MD
First Trimester Intracranial Calcifications 2-50
Paula /. Woodward, MD
Bleeding with IUP 1-2 Intracranial Mass 2-52
Anne Kennedy, MD Paula j. Woodward, MD
Bleeding without Visible IUP 1-8 Posterior Fossa Cyst/Fluid Collection 2-56
Anne Kennedy, MD Karen Y. all, MD
Abnormal Sac Contents 1-12 Abnormal Cerebellum 2-60
Anne Kermedy, MD Karen Y. oh, MD
Abnormal Sac Position 1-16
Karen Y. all, MD
Spine
Increased Nuchal Translucency 1-20
Roya So/wey, MD Spinal Mass 2-64
Anne Kennedy, MD
Abnormal First Trimester Fetus 1-24
A/Ille Kennedy, MD Abnormal Spine Position 2-68
Anne Kennedy, MD
First Trimester Membranes 1-30
Anne Ke/1I1edy,MD Abnormal Vertebral Column 2-74
Anne Kennedy, MD
First Trimester Pelvic Pain 1-34
Roya So/wey, MD
Adnexal Mass in First Trimester 1-38 SECTION 3
Karen Y. oh, MD
Fa«:e/Ne«:k
SECTION 2 Facial Cleft 3-2
Roya Sohaey, MD
Central Nervous System
Micrognathia 3-6
Anne Kennedy, MD
Brain Abnormal Midface 3-12
Absent Cavum Septi Pellucidi 2-2 Roya Solwey, MD
Amle Kennedy, MD Abnormal Eyes 3-16
Mild Ventriculomegaly 2-6 Roya Sohaey, MD
Roya Sohaey, MD Abnormal Ears 3-22
Hydrocephalus 2-10 Roya Sohaey, MD
Roya So/wey, MD Macroglossia 3-24
Fluid-filled Calvarium 2-14 Anne Kennedy, MD
Roya Sohaey, MD Facial Mass 3-26
Intracranial Cysts: Midline 2-18 Roya Sohaey, MD
Amle Kennedy, MD Neck Mass 3-30
Intracranial Cysts: Lateral 2-24 Paula /. Woodward, MD
Anne Kennedy, MD
Abnormal Brain Parenchyma 2-28

Karen Y. all, MD
SECTION 4
Absent Calvarium 2-32
Chest
Alme Kemle<ly, MD
Thoracic Fluid Collection 4-2
Abnormal Calvarium 2-36 Paula /. Woodward, MD
Anne Kennedy, MD
Solid/Echogenic Lung Mass 4-6
Microcephaly 2-42 Paula I. Woodward, MD
Anne Kennedy, MD
XIV
Cystic Lung Mass 4-10 Echogenic Kidneys 6-50
Pallia I. Woodward, MD Pallia /. Woodward, MD
Small Chest 4-14 Cystic Kidney 6-52
Pallia I. Woodward, MD Pallia I. Woodward, MD
Absent Kidney 6-54
Pallia I. Woodward, MD
SECTION 5 Large Bladder 6-56
Cardiac Pallia /. Woodward, MD
Absent/Small Bladder 6-58

Abnormal Cardiac Axis 5-2 Pallia I. Woodward, MD
Mille Kennedy, MD
Adrenal Mass 6-62
Chamber Asymmetry 5-8 Pallia /. Woodward, MD
Micilael D. Pllcilalski, MD
Ambiguous Genitalia 6-64
Cardiomegaly 5-12 Roya SO/lOey,MD
Micilael D. Pllcilalski, MD
Scrotal Mass 6-66
Septal Defect 5-16 Pallia I. Woodward, MD
Micilael D. Pllclwlski, MD
Abnormal Outflow Tracts 5-20

Micilael D. Plic/lOlski, MD SECTION 7
Abnormal Rate or Rhythm 5-24 Musculoskeletal
Micilael D. Pllclmlski, MD
Cardiac Mass 5-26 Abnormal Fetal Posture/Movement 7-2

Micilael D. Pllcilalski, MD Ian ice L. B. By",e, MD
Mildly Short Femur/Humerus 7-8
Korell Y. Oil, MD
SECTION 6 7-12
Severe Limb Shortening
Abdomen Ian ice L. B. By",e, MD
Angulated Bones 7-18
Abdominal Wall Ian ice L. B. By",e, MD
Abdominal Wall Defect 6-2 Abnormal Ossification 7-24

Pallia I. Woodward, MD lanice L. B. By",e, MD
Radial Ray Malformation 7-26
lallice L. B. By",e, MD
Gastrointestinal Tract
Abnormal Foot 7-30
Small/Absent Stomach 6-6 lanice L. B. By",e, MD
Abnormal Digits 7-36
Echogenic Bowel 6-10 Ian ice L. B. Byrne, MD
Roya So/mey, MD
Polydactyly 7-40
Dilated Bowel 6-12 lanice L. B. Byrne, MD
Pallia /. Woodward, MD
Syndactyly 7-42
Ascites 6-16 Ian ice L. B. By",e, MD
Karen Y. Oil, MD
Abdominal Calcifications 6-18

Karen Y. Oil, MD SECTION 8
Large Abdominal Circumference 6-22 Multiple Gestations
lanice L. B. Byrne, MD
Hepatomegaly 6-28 Membranes in Multiple Gestations 8-2
Pallia I. Woodward, MD Anne Kelllledy, MD
Cystic Abdominal Mass 6-32 Discordant Twin Growth 8-6

Pallia I. Woodward, MD Anne Ke'lIledy, MD
Solid Abdominal Mass 6-38 Asymmetric Fluid Distribution 8-10

Pallia I. Woodward, MD Anne Kennedy, MD
Twin Related Anomalies 8-14
A,me Ketlnedy, MD
Genitourinary Tract
Conjoined Twins 8-20
Mild Pelviectasis 6-40 Anne Kennedy, MD
Roya So/mey, MD
Fetal Hydronephrosis 6-42
Roya So/mey, MD
Renal Enlargement 6-46

xv
SECTION 11
Growth and Well Being
Intrauterine Growth Restriction 11-2
Roya Solwey, MD
Macrosomia 11-8
Roya Solwey, MD
Hydrops ll-lO
Fetal Anemia 11-16

Karen Y. 01-1, MD
Abnormal Fetal Presentation 11-20
Roya Sol-laey, MD
SECTION 12
uterus-Cervix
Short Cervix 12-2
Am1e Kennedy, MD
Uterine/Cervical Mass 12-6

Pallia /. Woodward, MD
XVI
D D
OBSTETRICS
xix
SECTION 1
First Trimester
Bleeding with IUP 1-2
Bleeding without Visible IUP 1-8
Abnormal Sac Contents 1-12
Abnormal Sac Position 1-16
Increased uchal Translucency 1-20
Abnormal First Trimester Fetus 1-24
First Trimester Membranes 1-30
First Trimester Pelvic Pain 1-34
Adnexal Mass in First Trimester 1-38
•.. BLEEDING WITH IUP
~
Gl
E o Flatter shape than normal gestational sac
"I:
I- DIFFERENTIAL DIAGNOSIS
o Central in cavity rather than eccentric
r!
u:
Common • Even if normal IUP seen beware heterotopic
• Failed Pregnancy pregnancy if patient symptomatic/has risk
• Perigestational Hemorrhage factors
• Early Normal Pregnancy • Placenta previa/abruption are NOT first
• Anembryonic Pregnancy trimester diagnoses
Less Common o Placenta often covers internal os in first
• Partial Mole trimester
• Twin Demise o Placenta large relative to uterine size
o Lower uterine segment (LUS) elongates
Rare but Important
after 28 weeks
• Interstitial Ectopic o Placental trophotropism results in
• Cervical Ectopic migration of placenta away from
• C-section Scar Ectopic cervix/LUS as pregnancy progresses
• Heterotopic Pregnancy
Helpful Clues for Common Diagnoses
• Failed Pregnancy
ESSENTIAL INFORMATION o Cardiac activity will be absent
Key Differential Diagnosis Issues o Sac being expelled from uterus, may
• Is there a gestational sac? contain yolk sac or embryo
o Imperative to differentiate a normal early o Sac often flattened/irregular shape
gestational sac from a pseudosac seen in o Sac in endometrial/cervical canal not
ectopic pregnancy implanted into uterus
o If no intrauterine pregnancy (IUP) look for o Color Doppler shows lack of normal
adnexal mass, echogenic fluid in cul-de-sac trophoblastic flow
• Where is the sac located? • Perigestational Hemorrhage
o Compare to prior studies if available o May be asymptomatic or present with
• Has there been appropriate interval vaginal bleeding
development? o Echogenic fluid deep to chorion
o Must know normal developmental • Becomes hypoechoic over time
milestones o Normal gestational sac contents
• Normal sac development • Early Normal Pregnancy
o Intradecidual sac sign (lOSS) earliest sign o Bleeding in pregnancy before visualization
of IUP of gestational sac (presumed to be
o lOSS seen by 4-4.5 weeks after last implantation bleeding)
menstrual period (LMP) • Follow all apparent lOSS to ensure
o Gestational sac "burrows" into normal developmental milestones
endometrium • Beware tiny cystic structures in
o Echogenic ring is eccentric to linear endometrium, may be dilated
interface of endometrial surfaces endometrial glands
• Must follow to confirm appropriate o Idiopathic bleeding: Normal sac/embryo
growth/milestones seen but no obvious collection of blood
o Double decidual sac sign (DOSS) seen by • Anembryonic Pregnancy
5-5.5 weeks post LMP o No visible embryo in gestational sac with
• Initially described as first reliable diameter ~ 18 mm by transvaginal exam
transabdominal sign of IUP o Look for "empty amnion" sign
• Decidua parietalis (endometrium) Helpful Clues for Less Common Diagnoses
surrounds decidua capsularis (gestational • Partial Mole
sac) = two echogenic rings o Vaginal bleeding
• Pseudosac associated with ectopic pregnancy o Abnormal embryo/fetus
o No DOSS
1 o Placenta may look normal or appear cystic
2
BLEEDING WITH IUP ."
~
• Intrauterine contraceptive device
•••
..•
o "Chorionic bump" correlates strongly with
partial mole • History of pelvic inflammatory disease
~r
ell
• Twin Demise • History of endometriosis ~

..•
o One normal gestational sac Other Essential Information
o One sac with variety of appearances • Important to recognize unusual (other than
• Perigestational hemorrhage tubal) ectopics
• Embryonic demise o Pregnancy is "in uterus" but not in correct
• Anembryonic gestation place
Helpful Clues for Rare Diagnoses o C-section scar ectopic treated with
• Interstitial Ectopic systemic methotrexate or percutaneous
o Look for interstitial line sign injection
o Eccentric placement of sac in relation to o Risk of torrential bleeding/emergent
uterine cavity hysterectomy if curettage attempted in
o < 5 mm of surrounding myometrium very cervical ectopic
suggestive o Interstitial ectopic also best treated
• Cervical Ectopic conservatively if patient stable
o Sac implanted in cervical stroma Alternative Differential Approaches
o Look for rim of tissue around sac rather
• Bleeding with intrauterine sac but no fetal
than sac within endocervical canal pole.
o Sac positioned low in uterus but still
o Anembryonic pregnancy
perfused (compared to abortion in progress o Pseudosac from ectopic pregnancy
with flattened sac, lack of perfusion) o Perigestational hemorrhage
• C-section Scar Ectopic • Bleeding with an embryo
o Gestational sac implants into scar from
o Perigestational hemorrhage
prior C-section, extends to serosa o Idiopathic (no obvious collection of blood)
• Heterotopic Pregnancy • Bleeding with no visible IUP
o Intrauterine & ectopic pregnancy o Very early normal pregnancy
o Look for adnexal mass, echogenic fluid in o Complete abortion
addition to IUP o Tubal ectopic pregnancy
• Differential: Normal IUP with
hemorrhagic corpus luteum
o Risk factors for heterotopic pregnancy
• Assisted reproduction
Sagittal transalxlominal ultrasound shows an apparently

empty uterus with a small amount of fluid lEI in the
Sagittal transvaginal ultrasound in the same case as
previous image shows an empty endometrial cavity Ea
1
region of the cervix. The paUent had an earlier scan but some mixed echogenicity material lEI in the cervix.
documenting a live IUP
3
BLEEDING WITH IUP
Perigestational Hemorrhage
(Left) Sagittal transvaginal
ultrasound in the same case
"zoomed" on the cervical
area shows the collapsed
gestational sac III containing
a 6 mm dead embryo
(calipers) and a yolk sac =:I.
This spontaneously passed
shortly after the exam.
(Right) Sagittal ultrasound
shows an IUP with a yolk sac
=:I and embryo _ There is
an adjacent perigestational
hemorrhage El This
pregnancy failed.
Perigestational Hemorrhage Perigestational Hemorrhage

(Left) Sagittal ultrasound
shows a large perigestational
hemorrhage =:I at the end of
the first trimester. (Right)
Axial ultrasound shows that
the perigestational
hemorrhage =:I covers at
least 50% of the gestational
sac circumference. Despite
the large size and repeated
episodes of spotting, this
patient delivered a healthy
term infant.
Early Normal Pregnancy Early Normal Pregnancy

(Leh) Sagittal transvaginal
ultrasound shows a thick,
decidualized endometrium,
with a tiny fluid-filled
structure 11:1 low in the
uterus. (Right) Color
Doppler shows the same
fluid-filled structure" This
proved not to be the
gestational sac, as an IUP
was later seen at the fundus.
Presumed etiology for
spotting was implantation
bleeding. Follow-up is often
required to differentiate an
early /UP from cystic
dilatation of endometrial
glands.
1
4
BLEEDING WITH IUP
Anembryonic Pregnancy
(Lefl) Transabdominal
ultrssound shows the
"empty amnion" sign III
Note also tbe irregular shape
of the geslalional sac IlIII and
small echogenic yolk sac E!ll
(RighI) Sagittal oblique
transabdominal ultrasound in
an HIV-posilive petiea:
shows a flattened emply
geststione! sac (calipers).
Mean sac diameter was 31
mm, and TV sonography
confirmed lhe absence of an
embryo and yolk sac.
Partial Mole Partial Mole

(Lefl) Transvaginal
ulussound shows a dead
embryo (calipers), irregular
geslalional sac III and large
yolk sac" Note the
echogenic metetist SI
adjacenl 10 the embryo. This
is a chorionic bump. (RighI)
Transvaginal ultrasound in
the same case as previous
image shows multiple
protrusions of the chorion
(i.e., chorionic bumps EllIi.
Partial mole was confirmed
eiter D&C. There is a strong
association of chorionic
bumps wilh pertiel mole.
Twin Demise Twin Demise

(LehJ Transabdominal
ultrasound shows a
dichorionic twin gestation
with failure of the right-sided
gestetior: lIS. The leit-sided
sac contains a normal
embryo SI and yolk sac IlII.
(RighI) Transabdominal
ultrasound shows a normal
second trimester fetus on the
righlllll and a small tissue
mass =:I on the lett;
representing a dead embryo.
Typically the failed
pregnancy resorbs over lime
and may disappear
completely.
1
5
•..
.! BLEEDING WITH IUP
III
CD
E
'I:
~
~ Interstitial Ectopic Interstitial Ectopic
u..
(Left) Axial oblique
transvaginal ultrasound
shows the" interstitia/line
sign' 1:1 leading from the
uterine cavity to the
gestational sac III which is
implanted far tstere! in the
right cornual region. (Right)
Sagittal oblique trensveginsl
as previous image shows a
very thin rim of myometrium
1:1 that surrounds the
gestational sac « S mm of
surrounding myometrium is
highly suggestive of an
interstitial ectopic
pregnancy).
Cervical Ectopic Cervical Ectopic

(Left) Sagittal ultresound
shows an "empty" uterus
with a thin endometriei echo
complex III Note the fluid
containing structure
region of the cervix =.
in the
(Right) Sagittal transvaginal

as previous image shows the
gestational sac" implanted
in the anterior cervical
stroma. The bladder IIIl and
posterior cervical stroma E!lI
are also seen.
Cervical Ectopic C-section Scar Ectopic

uett) Axial ultrasound
through the cervix in the
same case shows an embryo
~ within the gestational sac
•• which is implanted
within the anterior cervical
lip (E!lI indicates posterior
lip). Doppler evaluation
showed cardiac activity.
(Right) Sagillaltransvaginal
ultrasound shows blood
products in the endomelrial
cavity III The gestational
sac is irregular in shape, and
the chorionic tissue IIIl
extends into the anterior
myometrium at the site of
the old hysterotomy.
1
6
BLEEDING WITH IUP
C-section Scar Ectopic Heterotopic Pregnancy

(Lefl) Color Doppler
ultrasound from the prior
case shows increased blood
flow in the region of the scar
1m. Note that the sac is not
implanted in the cervix nor is
it within the cervical canal
III as would be seen with
an abortion in progress.
(RighI) Axial oblique
transvaginal ultrasound in a
patient following assisted
reproduction shows an fUP
•• with another gestational
sac HI seen in the left
adnexa. Salpingostomy was
successful, and the IUP went
to term.
Heterotopic Pregnancy Heterotopic Pregnancy

(Leh) Sagittal
transabdominal ultrasound
shows an entepositioned
uterus. and a large
volume of clot in the
cul-de-sac. An echogenic
ring in the fundus HI was a
possible intrauterine
pregnancy. (Right) Coronal
shows fluid in the
hepatorenal fossa ••
confirming a large volume
.intraperitoneal bleed.
Heterotopic Pregnancy
(Leh) Axial ultrasound
confirms an fUP. Pelvic
thrombus obscures normal
uterine serosal echoes •.
therefore, careful imaging is
required to separate the
uterus from adnexal
structures. (RighI)
Transvaginal ultrasound of
the right adnexa shows a
hemorrhagic mass. with
surrounding flow separate
from the uterus and IUP.
Ruptured right tubal ectopic
was confirmed at surgery;
thus this is a heterotopic
pregnancy.
1
7
BLEEDING WITHOUT VISIBLE IUP
DIFFERENTIAL DIAGNOSIS Helpful Clues for Common Diagnoses

Common • Complete Abortion
o Uterus empty with os closed
• Complete Abortion
o Beta hCG will decrease on follow-up
• Very Early Normal Pregnancy
• Very Early Normal Pregnancy
• Retained Products of Conception
o Bleeding in pregnancy before visualization
• Tubal Ectopic
of gestational sac (presumed to be
Less Common implantation bleeding)
• Complete Hydatidiform Mole o Commercial pregnancy tests now very
Rare but Important sensitive: Positive on day 1 of missed
• Abdominal Ectopic menses
o At 4-4.5 weeks menstrual age may not see
any sonographic evidence of pregnancy
ESSENTIAL INFORMATION • Transvaginal (TV) sonography
Key Differential Diagnosis Issues mandatory for best resolution
• It is essential to confirm patient is actually • Beware tiny cystic structures in
pregnant endometrium, may be dilated
o Ruptured hemorrhagic cyst can present in endometrial glands
similar manner to ectopic pregnancy • Follow all apparent IDSS to ensure
o Most cyst ruptures are managed normal developmental milestones
conservatively o If quantitative beta hCG low and patient
o Bleeding ectopic pregnancy requires stable repeat at 48 hr intervals
surgery • If doubling normally likely early IUP
o Check urine pregnancy test ± quantitative • Repeat scan once beta hCG > 2,000 IV
beta hCG in all cases • Retained Products of Conception
• Tubal ectopic must be ruled out in every o Material in endometrial cavity
case • Echogenic more suspicious than
o If patient clinically unstable laparoscopy hypoechoic
may be required to establish diagnosis o Look for feeding vessels on color Doppler
• Blood in pelvis obscures serosal margins • Tubal Ectopic
• Patients are often in pain and cannot o Beta hCG at level where IVP should be
tolerate transducer pressure seen (> 2,000 IV)
• Positive pregnancy test & blood in pelvis o No intrauterine gestation sac
& unstable patient requires laparoscopy o Look for adnexal mass
o If stable then "wait and see" approach is • Tubal ring moves separately from ovary
reasonable with transducer pressure
• Follow serial beta hCG at 48 hr intervals • "Ring of fire" on color Doppler
• Repeat ultrasound when beta hCG interrogation due to trophoblastic flow
reaches threshold levels or if • Remember corpus luteum also has "ring
symptomatic change of fire" but will be in or move with ovary
o Avoid presumptive diagnosis of ectopic o Look for hematosalpinx
• Must know normal early pregnancy • Tubular adnexal structure with
development and milestones to avoid echo genic, non-perfused contents
this mistake • Due to hemorrhage into lumen of tube
• Do not give methotrexate to a patient • Occurs before tubal rupture leads to
with a possible early intrauterine intraperitoneal bleeding
pregnancy (lUP) o Beware pseudosac in uterus
• Therapeutic abortion required if • Fluid collection central in uterine cavity
methotrexate spontaneous abortion does • Normal gestation "burrows" into
not occur endometrium, therefore eccentric or
intradecidual
1
8
BLEEDING WITHOUT VISIBLE IUP "Tl
• No intradecidual sac sign (mDS) o ALWAYSmake sure that the fetus is IN the
-..
ii
-l
3'
• No double decidual sac sign (DDSS) uterus
-..
CD
III
• Flattened shape • Follow cervix to anterior and posterior CD
• No recognizable internal structures: May myometrium
contain low echogenicity amorphous Other Essential Information
• Normal IUP has yolk sac ± embryo • Time line, clinical history and prior
o Echogenic fluid in cul-de-sac correlates lab/imaging information are important
strongly with bleeding o When did urinary pregnancy test become
• Pus also creates echogenic fluid but positive?
pregnancy test negative, patient presents o Cervix open or closed?
with fever/elevated white cell count o Are there any prior scans?
Helpful Clues for Less Common Diagnoses • If confirmed prior IUP with empty uterus
• Complete Hydatidiform Mole now complete abortion is most likely
o Technically "product of conception" but diagnosis
abnormal so no embryo o Is there a quantitative beta hCG?
o Uterus distended by mass with hydropic • Doubling normally - probable early IUP
chorionic villi creating a "bunch of grapes" • Increasing abnormally - abnormal IUP
or snowstorm appearance or ectopic
o Beta hCG may be very high • Decreasing - failed JUP,complete
o Look for theca lutein cysts in ovaries abortion, resolving ectopic
• Seen in 25% of cases • Discriminatory beta hCG
o Often large for dates with hyperemesis ± o Variable numbers in literature from 1,500
hypertension - 2,000
o Most institutions decide on a number;
Helpful Clues for Rare Diagnoses
author's institution uses 2,000
• Abdominal Ectopic
o Once the threshold is reached an IUP
o Gestation implanted outside uterus within
should be demonstrated
peritoneal cavity
o Amniotic sac intact therefore embryo/fetus
• Regular increase and no IUP "* ectopic
most likely diagnosis
surrounded by fluid
• If single data point and no IUP "* ectopic
o May see multiple placental implantation
or complete abortion are possible,
sites
management determined by clinical
o Uterus is empty and deep in maternal
condition
pelvis
Complete Abortion Complete Abortion
Sagittal transvaginal ultrasound shows an empty Ulerus

in a patient with a positive urine pregnancy lest and
Ultrasound in the same case shows a hemorrhagic right
adnexal mass" Her pain settled; repeat scan showed
1
pelvic pain. She had passed "tissue" and was clinically resolution of clot. Presumed diagnosis was complete
stable, though in pain. Note echogenic fluid=. abortion and ruptured hemorrhagic corpus luteum.
9
•..
.! BLEEDING WITHOUT VISIBLE IUP
1/1
Q)
E
-
';:
I-
r! Very Early Normal Pregnancy

ii:
=-
ultrasound shows fluid in the
cavity
endometrium"
decidualized
and a
questionable echogenic ring
E!ll suggestive of the
intra decidual sac sign. The
patient was clinically stable.
(Right) Axial transvaginal
10 days later shows interval
development of a normal
IUP with an embryo
Short term follow-up scans
=
are very useful in early
pregnancy.
Retained Products of Conception Tubal Ectopic

(Leh) Sagittal color Doppler
ultrasound shows a large
amount of ecbogenic
material ln the uterus in a
patient with a prior
ultrasound confirming a live
IUP. This is the typical
appearance of retained
products of conception.
(Right) Axial oblique color
Doppler ultrasound shows
an adnexal ring =:I adjacent
to the right ovary III which
has a corpus luteum cyst E!lI
within it. Other images
showed no evidence of an
IUP. Surgery confirmed right
tubal ectopic.
Tubal Ectopic Tubal Ectopic

ultrasound in a different case
shows thick inhomogeneous
endometrium =:I but no
evidence of a gestational sac.
(Right) Axial oblique
transvaginal ultrasound in
the same patient shows a
normal ovary = and a
ring-like adnexal mass •.
There was no evidence of
intraperitoneal bleeding, and
the patient was successfully
treated with methotrexate.
1
10
BLEEDING WITHOUT VISIBLE IUP .."
-
;i0
-t
:l.
3
CD
Tubal Ectopic Tubal Ectopic ~
..•
ultrasound shows an
irregularly shaped "sac" III
with a single echogenic ring
and internal debris. Note
echogenic lIuid in the
cul-de-sac Ill. The patient
refused intervention as this
was a highly desired
pregnancy. (Right) Power
Doppler ultrasound 48 hours
later shows increased
intraperitoneal bleeding HI
and a hemorrhagic left
adnexal mass III. Surgery
confirmed ruptured tubal
ectopic. Uterus negative for
products of conception.
Complete Hydatidiform Mole Complete Hydatidiform Mole

(Left) Sagittal
shows a multicystic mass III
in the uterus. There is no
recognizable fetus. (Right)
Axial transabdominal
ultrasound in the same
patient confirms a large
uterus filled with a
multicystic mass. The beta
hCG was elevated. She was
treated with suction
curettage. Pathology
confirmed complete
hydatidiform mole.
Abdominal Ectopic
(Left) Sagittal
transabdominal ulLrasound in
a patient with abdominal
pain at 24 weeks shows that
the gestational sac III is
implanted on the fundus III
not inside the uterus. She
had three prior scans at
which this finding was
missed. (Right) Sagittal T2WI
MR performed for surgical
planning shows two
placental masses III and the
fetus HI without surrounding
myometrium. The cervix.
could be followed to an
empty uterus in adjoining
scan planes.
1
11
•.. ABNORMAL SAC CONTENTS
S
til
CD
E o Gestational sac with MSD > 18 mm, visible
·C
l- DIFFERENTIAL DIAGNOSIS
amnion ± yolk sac but no embryo
ii Common • Failure of embryo to develop
u:: • Anembryonic Pregnancy • Early embryonic demise and resorption
• Abnormal Yolk Sac • Abnormal Yolk Sac
• Embryonic Demise o Flattened
• Pseudosac in Ectopic Pregnancy o Calcified
less Common o > 6mm diameter
• Retained Products of Conception • Yolk sac supports pregnancy prior to
• Gestational Trophoblastic Disease placental development
o Complete Hydatidiform Mole o Normally s 6 mm in diameter, spherical in
o Partial Mole shape
o Invasive Mole • Embryonic Demise
• Chorionic Bump o Absence of cardiac activity in an embryo
• Endometrial Polyp in Pregnancy with crown rump length> 5 mm
• Use endovaginal sonography
Rare but Important
• Two independent observers
• Abnormal Fetus o Beware of confusing maternal pulse with
embryonic cardiac activity
ESSENTIAL INFORMATION • Embryonic heart rate is usually faster
than maternal (120-160 vs. 80 beats per
Key Differential Diagnosis Issues minute)
• Be familiar with normal appearances of early • If possible embryonic bradycardia feel
pregnancy (i.e., normal sac contents) maternal pulse while watching
o Intradecidual sac sign (IDSS)
embryonic heart rate
• Earliest described sign of intrauterine • Pseudosac in Ectopic Pregnancy
pregnancy (fUP) o Oval or flat shape
• Cystic structure within endometrium, o Central in cavity
eccentric in relation to cavity o Not surrounded by double, echogenic,
o Double decidual sac sign (DDSS)
chorionic ring
• Earliest transabdominal finding of IUP o Possible pseudosac merits careful search for
o Double bleb sign
ectopic pregnancy
• Seen for short period in early pregnancy o Tubal ectopic most common association
• Double bleb = yolk sac + amnion on with pseudosac
either side of embryonic disc
• Cornual, cervical, C-section ectopics
• Extra-embryonic coelom (chorionic cavity) = should be evident
space between amnion and chorion
o Normally echogenic compared to anechoic Helpful Clues for less Common Diagnoses
fluid inside amnion • Retained Products of Conception
• Normal IUP growth/milestones o RPOC: Irregular collapsed sac or echogenic
o Normal gestational sac grows - 1 mm per chorionic remnants
day o Blood flow on color Doppler implies RPOC
o When mean sac diameter (MSD) ~ 10 mm rather than blood clot
yolk sac should be visible • Complete Hydatidiform Mole
o When MSD ~ 18 mm embryo should be o Typical clinical presentation
visible • Hyperemesis, hypertension, size> dates,
o "Five alive" rule: Embryo with crown rump vaginal bleeding
length z 5 mm must have cardiac activity o Cavity distended by mass with multiple
"cysts" - "bunch of grapes" or "snowstorm"
Helpful Clues for Common Diagnoses appearance
• Anembryonic Pregnancy o May be associated with ovarian theca
o Empty amnion sign
lutein cysts
1
12
ABNORMAL SAC CONTENTS ."
• Partial Mole • Central nervous system:

-..
:;"
-t
3"
o First trimester: Unusual looking Holoprosencephaly, hydranencephaly, <II
sac/chorionic bump
o Second trimester presentation depends on
exencephaly
• Abdominal wall defects: Gastroschisis,
..
CIl
iD
source of third set of chromosomes omphalocele

• Large, cystic placenta if paternal Other Essential Information
• Small placenta if maternal • Differentiate abnormal sac contents from
• Invasive Mole abnormality adjacent to sac
o No embryo
o Perigestational hemorrhage
o Complex intrauterine vascular mass
• Mixed echogenicity between chorion
o Loss of endometrial myometrial interface
and myometrium
due to invasion into myometrium
• Crescentic shape
• Chorionic Bump • Often associated with vaginal bleeding
o Focal protuberance from chorionic surface
o Failed twin
o First described among in vitro fertilization
• Smaller MSD than normal twin
(IVF) population but also seen with
• Irregular shape
spontaneous conception • Diminished chorionic echogenicity
o 50% loss rate documented in IVF patients
• Decrease in size on follow-up
o Etiology unknown; possible early bleed
o Uterine myomata
o Strong association with partial mole
• Hypoechoic mass adjacent to sac
• Endometrial Polyp in Pregnancy • Posterior submucosal myomata
o < 2 em unlikely to impact pregnancy
associated with recurrent abortion
rate/success in IVF population • Degenerated fibroid may appear similar
o Modern approach to IVF patients indicates
to sac with echogenic fluid content
polypectomy justifiable if polyp discovered
• Beware pseudosac of ectopic pregnancy
in work-up o Ruptured ectopic still important cause of
Helpful Clues for Rare Diagnoses maternal morbidity and mortality
• Abnormal Fetus o Know signs of intra-uterine pregnancy
o First trimester detection of fetal anomaly is (IUP)
possible • lOSS: Fertilized ovum burrows into
• Increased nuchal translucency decidualized endometrium
• Cystic hygroma • DOSS: Two concentric echogenic rings
• Limb reduction defects • Presence of a yolk sac confirms lUP
Anembryonic Pregnancy Abnormal Yolk Sac
Coronal transvaginal ultrasound shows an abnormal

calcified yolk sac IIllI outside the amnion EllI. At this
Transvaginal ultrasound shows a structure (calipers)
mistaken for the embryo. It is a pyknotic yolk sac lying
1
mean sac diometer a living embryo should have been outside the amnion 1IllI. The embryo EllI is inside the
present This is the "empty amnion" sign. amnion. Foltow-up confirmed embryonic demise.
13
•..
.! ABNORMAL SAC CONTENTS
III
Gl
E
'C
I-
~ Abnormal Yolk Sac

ii:
(Left) Transvaginal
ultrasound shows an
enlarged yolk sac (calipers)
adjacen! 10 the misshapen
amnion Bl The embryo •••
had no cardiac activity.
(Right) Transvaginal
ultrasound shows an
intrauterine pregnancy with
embryo =
a triangular yolk sac. The
had bradycardia
with heart rate of 90 bpm.
Spontaneous miscarriage
occurred before the
tollow-up examination.
Embryonic Demise Embryonic Demise

(Left) Color Doppler
dead embryo =
ultrasound shows a residual
in a sac full
of echogenic debris. Initial
images two weeks earlier
had shown a live embryo,
yolk sac and chorionic
bump. (Right) M-mode
ultrasound shows no
delectable cardiac activity
for the embryo, consistent
with embryonic demise. A
markedly enlarged yolk sac
IlllI is seen next 10 the
embryo=-
Pseudosac in Ectopic Pregnancy Pseudosac in Ectopic Pregnancy

shows a small fluid collection
= in the middle of the
endometrial cavity. This
should not be confused with
an fUP. Note the lack of a
double decidual sac sign. An
ectopic pregnancy was
confirmed. (Right)
Transvaginal ultrasound
shows a "sac" = with
irregular echogenic debris.
There is a large amoun! of
blood HI within the
cul-de-sac. Surgery
confirmed a ruptured tubal
ectopic pregnancy.
1
14
ABNORMAL SAC CONTENTS "TI
~.
..•.
..•
-t
3'
CD
Ul
Retained Products of Conception Complete Hydatidiform Mole iD
..•
ultrasound in a patient with
pain and bleeding shows
=-
mixed echogenicity material
with increased Ilow !:I.
Earlier scans had shown a
live embryo. D&C confirmed
RPOC. (Right)
Transabdominal ultrasound
shows the uterus distended
by a multicystic mass
normal
No =-
fetal parts were seen.
The "cysts ", which are
hydropic chorionic villi,
create the characteristic
r, bunch of grapes"
appearance.
Partial Mole Invasive Mole

(Left) Transvaginal
ultrasound shows an
intrauterine sac containing
=-
fine avascular membranes
but neither embryo nor
yolk sac. Tissue diagnosis
after D&C was partial mole.
(Right) Color Doppler
ultrasound shows a
hyper vascular mass with no
dear distinction with the
myometrium, very
concerning for invasion.
Pulsed Doppler shows high
velocity, low resistance flow.
Medical treatment was
successful.
Chorionic Bump Chorionic Bump

(Left) M-mode ultrasound
not surprisingly shows no
cardiac activity in this
chorionic bump IIa mistaken
for an embryo by an
inexperienced sonographer.
An anembryonic pregnancy
was confirmed on iollow-up,
shows no flow within the
chorionic bump !:I. A small
echogenic yolk sac E!lI is also
seen. Chorionic bumps have
been associated with both
triploidy and earfy
pregnancy loss.
1
15
•.. ABNORMAL SAC POSITION
.S!
III
Gl
E • Will be open for abortion in progress
DIFFERENTIAL DIAGNOSIS
-e
".:
I-
• Closed in cervical ectopic
Common o Correlate with serial hCG
ii: • Spontaneous Abortion • Should be decreasing with spontaneous
• Tubal Ectopic abortion
less Common • Tubal Ectopic
• Uterine Duplication o Most specific diagnostic clue: Adnexal
• Interstitial Ectopic gestational sac ± embryo
• Cervical Ectopic o Most common presentation: No IUP,
• C-Section Scar Ectopic tubal/adnexal mass, echogenic free fluid in
cul-de-sac
Rare but Important
• Decidual reaction in uterus
• Heterotopic Pregnancy • May have pseudosac
• Abdominal Ectopic • Heterogeneous tubal hematoma
• Pulsed Doppler shows low resistance flow
ESSENTIAL INFORMATION in tubal pregnancy
o Ectopic often on same side as corpus
Key Differential Diagnosis Issues
luteum
• Confirm intrauterine pregnancy (IUP) o Ultrasound negative in 5-10% of cases
o Exclude ectopic pregnancy
• Beware of pseudosac: Fluid centrally Helpful Clues for less Common Diagnoses
located in endometrial canal • Uterine Duplication
o Should have typical signs of early IUP o May give the appearance of ectopic
depending on gestational age implantation
• Intradecidual sac sign: Echogenic ring o Implantation actually within one horn of
around sac within endometrium uterine anomaly
• Double decidual sac sign: Paired • Didelphys: 2 separate endometrial
echogenic rings around early sac cavities
• Double bleb sign: Yolk sac and amniotic • Bicornuate: 2 separate uterine horns with
sac concave outer uterine contour
• Diamond ring sign: Yolk sac with • Septate: Variable length of septum
associated early embryo separating cavities, normal outer uterine
• Clarify location of implantation site contour
o Should be eccentric within endometrium o Myometrium completely surrounds sac as
o Sac should be within the body of the implantation is normal
uterus above internal os • Interstitial Ectopic
o Myometrium should be completely o Look for interstitial line sign
surrounding sac • Echogenic line from endometrium to
ectopic sac
o Myometrium around sac should be at least
• Spontaneous Abortion 5 mm thick
o Use color Doppler to differentiate ectopic
o Can grow to be larger than tubal ectopic as
implantation from abortion in progress blood supply better
• Early IUP has increased surrounding • Within intramural portion of fallopian
flow; "ring of fire" appearance due to tube
trophoblastic tissue o May present as echogenic mass within
• Spontaneous abortion is much less cornua without sac
vascular • Mass is combination of trophoblastic
o If embryo visualized, assess for heart beat
tissue and hematoma
• If heart rate detected, usually indicates • Cervical Ectopic
an implanted pregnancy o Prior instrumentation of uterus considered
o Evaluate internal os
key risk factor
1
16
ABNORMAL SAC POSITION
o Assess for "hourglass" shape of uterus • Abdominal Ectopic

• Cervix distended but internal os is closed o No IUP identified but sac or embryo/fetus
• Transabdominal ultrasound helpful to seen outside the uterus
evaluate landmarks and shape o Lack of normal hypoechoic myometrial
o Eccentric implantation into wall of cervix rim around pregnancy
• Distinguishes from spontaneous abortion o Look for echogenic free fluid in abdomen
in progress which is central and pelvis
• C-Section Scar Ectopic o If ruptured or early may only see
o Multiple prior C-sections may increase risk hematoma
• Look for implantation near scar and Other Essential Information
thinned/absent anterior myometrium • Always correlate with serum human
o Assess for other associated complications if
chorionic gonadotropin (hCG)
presenting later in pregnancy o If hCG > 2000 IV should see IUP
• Placenta accreta, increta, percreta • No IUP ~ missed or spontaneous
• Placenta previa abortion vs. ectopic pregnancy
• Placental abruption • If no IVP and patient stable, can follow
o Trophoblastic tissue in scar may invade
serial hCG ± ultrasound
into bladder o If hCG < 2000 IV may be too early to see
Helpful Clues for Rare Diagnoses IVP
• Heterotopic Pregnancy • Differential includes early IUP,
o Correlate with clinical history spontaneous abortion and ectopic
• < 1:30,000 in spontaneous pregnancies pregnancy
• Much more common if history of • Look for signs of ruptured ectopic:
assisted reproduction Echogenic fluid, adnexal "mass", pain,
• Damage to endometrium or fallopian anemia
tubes predisposes to ectopic • If patient stable, can follow with serial
implantation hCG and ultrasound
o IVP identified but adnexal mass seen • Normal hCG should double every 2-3 days
o Beware of misdiagnosis due to "ring of fire" in the first trimester
around corpus luteum o Ectopic pregnancies usually rise more
• Intraovarian ectopics exceedingly rare slowly than normal IUP
• Tissue around corpus luteum can o Abnormally developing early IUP can also
normally be hypervascular have slower increase in hCG
Spontaneous Abortion Spontaneous Abortion
Sagittal transvaginal ultrasound shows an amorphous 8

week embryo and sac 112 in the cervix. The internal 05
Sagittal transvaginal ultrasound shows a flat gestational
sac 112 and decidual tissue HlI in the cervix of a patient
1
is open III indicating this is an abortion in progress with an incomplete spontaneous abortion. D&C
rather than a cervical ectopic. showed products of conception.
17
•.. ABNORMAL SAC POSITION
S
III
Ql
E
-e
";:
I-
Spontaneous Abortion Tubal Ectopic

u:: (Left) Sagittal transvaginal
ultrasound in the first
trimester shows a passing
embryo and sac IIIin the
cervix. The internal as is
open l1li causing the external
contour 81 to be relatively
flat compared to a cervical
ectopic which can create an
"hourglass" contour. (Right)
Axial transvaginal ultrasound
shows an ectopic gestational
sac III within the ampullary
portion of the tube. The tube
81 is distended with blood
and is well seen. The
endometrial cavity 11:1 is
empty.
Tubal Ectopic Uterine Duplication

right ovary IIIand an
adjacent heterogeneous
ruptured tubal ectopic
pregnancy 81. (Right)
Transverse transabdominal
known bicornuate uterus
shows a first trimester
pregnancy in the right horn
l1li. and decidual reaction in
the left horn HI.
Interstitial Ectopic Cervical Ectopic

(Left) Transvaginal
ultrasound shows the
endometrial cavity distended
with blood products IIIand
an eccentric gestational sac
• with minimal mvometriel
coverage HI. At surgery, an
unruptured interstitial
ectopic was resected. (RighI)
Sagittal transabdominal
ultrasound shows an empty
uterus = and a cervical
gestational sac l1li.
1
18
ABNORMAL SAC POSITION ."
..
:;"
-I
:I.
3
CD
CIl
Cervical Ectopic Cervical Ectopic
..•
CD

uterus with a thin
endometrium =:I and an
eccentric sac in the cervix
ElIl (Right) Sagittal color
Doppler ultrasound of the
same petien: shows thet the
ectopic sac is very vascular
for its size EiIl A sac in a
spontaneous abortion would
not exhibit this degree of
vascularity.
C-Section Scar Ectopic

shows an anechoic
geslallonal sac = et the site
of a C-seclion scar. There is a
surrounding decidual
reaction within the
myometrium EiIl The
endometrium. is seen
centrally within the uterus.
(Right) Transverse
transvaginal ultrasound of a
heterotopic pregnancy
pregnancy =
shows an intrauterine
at 6 weeks 4
days. In addition, there is an
associated left adnexal
gestational sac and live
embryo III.
Abdominal Ectopic Abdominal Ectopic

(Left) SagiLtal T2WI MR
shows an early second
trimester fetus and placenta
•• are located outside of the
uterus HI There is a
decidual reaction IIl:I within
the uterus. (Right) SagiLtal
shows an empty uterus =
and a sac with Iete! parts lID
in the posterior cul-de-sac.
This was confirmed with MR.
1
19
... INCREASED NUCHAL TRANSLUCENCY
~
Gl
E o Abnormal DV waveform
-e
'I:
I-
• Retrograde "A" wave
Common o Look for cardiac defect with transvaginal
u: • Chromosome Abnormality ultrasound
o Trisomy 21 • Atrioventricular septal defect
o Trisomy 18 o t NT may evolve into nuchal skin fold
o Trisomy 13 thickening in 2nd trimester
o Turner Syndrome (X0) • Trisomy 18
• Congenital Heart Defects o T18: Second most common chromosome
o Ventricular Septal Defect abnormality
o Hypoplastic Left Heart o Some major anomalies are detectable in
o Atrioventricular Septal Defect first trimester
• Cystic Hygroma • Omphalocele
o Hydrops • Cardiac defects
• Normal Amnion (Mimic) • Musculoskeletal anomalies
less Common • Trisomy 13
• Nuchal Cord (Mimic) o T13: Third most common chromosome
• Fetal Demise abnormality
o Some major anomalies are detectable in
first trimester
ESSENTIAL INFORMATION • Holoprosencephaly
Key Differential Diagnosis Issues • Cardiac defects
• Nuchal translucency (NT) measurement • Omphalocele (omphaloceles containing
recommended in all 11-14 wk pregnancies bowel have higher incidence of
• Larger NT associated with worst prognosis chromosomal abnormalities)
• Look for other first trimester aneuploidy • Turner Syndrome (XO)
markers at time of NT assessment o Largest NTs are seen with TS
o Absent nasal bone (NB) o Cystic hygroma
o Ductus venosus (DV) assessment • t NT with septations
• Normal DV with antegrade triphasic flow o Hydrops
• Abnormal DV with retrograde "A" • t NT + fluid in anyone other
portion of wave compartment
• Look for first trimester anomalies • Pleural effusion
o Transvaginal ultrasound helpful • Body wall edema
• Correlate NT with first trimester maternal • Ascites
serum results o Cardiac defects
o Free II-human chorionic gonadotropin • Hypoplastic left heart
(ll-hCG) • Congenital Heart Defects
o Pregnancy-associated plasma protein A o t NT seen with isolated congenital heart
(PAPP-A) defects
o T21 pattern is t ll-hCG, ~ PAPP-A • Normal CVS
• Offer chorionic villus sampling (CVS) • Normal maternal serum testing
o Ductus venosus assessment helpful,
Helpful Clues for Common Diagnoses however not always abnormal
• Trisomy 21 o Early echocardiography with transvaginal
o Absent NB
scanning
• Absent NB with a crown rump length • Color Doppler important for small septal
(CRL) 45-64 mm = 17x t T21 risk defects
• Absent NB with a CRL 65-84 mm = o Second trimester echocardiography
44-48x t T21 risk • If first trimester echo is inconclusive or
• AsNT increases, incidence of absent NB normal
also t
1
20
INCREASED NUCHAL TRANSLUCENCY ."
[
-I
• Cystic Hygroma o Timing ::I.
o Larger septated mass
3
• 11-14 wks menstrual age C1l
o Increased incidence in Turner syndrome • CRL of 45-84 mm ~
..•
C1l
but may occur in chromosomally normal o Fetal position
fetuses • Midsagittal plane
o May develop hydrops • Head in neutral position
• Incurs very poor prognosis • Beam perpendicular to skin
• Normal Amnion (Mimic) o Image appropriately magnified
o Must see both amnion and skin to measure • Head, neck, upper chest occupies", 75%
NT of image
• Do not confuse amnion for nuchal skin o Calipers must be placed correctly
o Fetus lies on amnion • Use "+" not "x" calipers
• Obscures the nuchal skin line • Crosshatch borders fluid
• Wait for fetus to move away from • True measurement of anechoic fluid only
amnion o Sonographer accreditation recommended
o Amnion and chorion normally fuse by 14 • Didactic course
wks • Submit images for review
Helpful Clues for Less Common Diagnoses • Audit every 6 months
• Maternal serum testing + NT
• Nuchal Cord (Mimic)
o Increases sensitivity for detection of
o Umbilical cord behind neck in first
aneuploidy
trimester
• > 90% detection rates reported
• Finding is not clinically significant
o Sequential screening most commonly
o Measuring cord + neck will falsely
offered
increases NT
• Nuchal translucency
o Cord can compress skin with focal
• First trimester blood test
increased NT
• Second trimester blood test
o Consider bringing patient back on another
• 18-20 week anomaly screen
day
• Fetal Demise
o Obvious diagnosis during real time
evaluation
Other Essential Information
• NT measurement technique
Trisomy 21 Trisomy 21
Sagitlal ultrasound shows increased NT (calipers) and

absent nasal bone HI The nuchal skin is seen separate =-
Axial ultrasound shows second trimester follow-up in
the same fetus. The nuchal skin fold is now thick
1
from the amnion • The calipers are placed to Increased NT otten becomes increased nuchal fold
measure only fluid. thickening, both markers for T21.
21
•..
Gl INCREASED NUCHAL TRANSLUCENCY
';)
Gl
E
.~
-e
I-
u:: (Left) Sagiltal ultrasound

shows increased NT 11:1 and

a markedly enlarged bladder
• (Right) Coronal
shows a club foot lID. Many
major anomalies are
detectable in the first
trimester, especially when
transvaginal ultrasound is
used to assess fetal anatomy.
shows a markedly increased
nuchal translucency.
Further evaluation of the
fetal anatomy was performed
by transvaginal ultrasound.
(Right) Axial transvaginal
ultrasound shows first
trimester alobar
holoprosencephaly. The
thalami are fused lID and
there is a single
monoventricle lIS. A mantle
of brain E!IlI crosses the
midline and there is no falx.
Turner Syndrome (XO) Turner Syndrome (XO)

(Left) Axial ultrasound shows
a cystic hygroma lID with a
single thin septation 1lIl.
(Right) Coronal ultrasound
shows a pleural effusion.
The largest NTs are
associated with hydrops and
Turner syndrome.
1
22
INCREASED NUCHAL TRANSLUCENCY
Ventricular Septal Defect Ventricular Septal Defect

shows increased nuchal
translucency" The
.
patient's chorionic villus
-' sampling results were normal

so she came back at 14
weeks for an early fetal
~ltp cardiac study. (Right) Axial
color Doppler ultrasound
~ . ~rl
...•.
performed with transvaginal
\;."
'WI' ••
.
scanning shows a ventricular
-.-. ...•....
. - . septal defect _ The left
ventricle =:I and right
HI
~
................••
'~
ventricle
normal.
are otherwise
1Iii~
..~- .
Normal Amnion (Mimic) Normal Amnion (Mimic)

shows increased fluid behind
the neck III; however, a
separate amnion and nuchal
skin line are not seen on this
image. (Right) Sagittal
ultrasound shows beller
magnification in the same
case. The NT is normal. The
nuchal skin line E!!lI is seen
separate from the amnion.
and therefore the amnion no
longer mimics the skin line.
Nuchal Cord (Mimic) Nuchal Cord (Mimic)

shows increased NT
(calipers) and a nuchal cord
_ The cord can cause
spurious increased NT
measurement because of
mass effect on the skin and
should not be included in
the measurement. (Right)
Sagittal pulsed Doppler
ultrasound confirms the
presence of the umbilical
cord behind the neck. The
maternal serum screen
results and the baby were
normal.
1
23
ABNORMAL FIRST TRIMESTER FETUS
DIFFERENTIAL DIAGNOSIS • Renal function does not account for

majority of fluid volume until 16-17
Common weeks
• Increased Nuchal Translucency • Cannot exclude renal agenesis,
• Cystic Hygroma autosomal recessive polycystic kidney
• Central Nervous System Anomalies, Severe disease on basis of normal fluid in first
• Congenital Heart Defects trimester
Less Common Helpful Clues for Common Diagnoses
• Absent Nasal Bone • Increased Nuchal Translucency
• Gastroschisis o Check ductus venosus CDV)waveform
• Omphalocele o Abnormal DV waveform = t risk of adverse
• Conjoined Twins outcome even if chromosomes normal
• Twin Reversed Arterial Perfusion o Trisomy 21
Rare but Important • Look for associated absent nasal bone,
• Autosomal Recessive Syndromes atrioventricular septal defect
• Cystic hygroma/skin edema in Down
syndrome is truncal
ESSENTIAL INFORMATION o Trisomy 18
Key Differential Diagnosis Issues • Look for associated omphalocele,
• Must know normal developmental anatomy complex congenital heart disease
to avoid erroneous diagnosis of anomaly o Trisomy 13
o Brain: lnfratentorial • Look for associated alobar
• Rhombencephalon = precursor of holoprosencephaly, cyclopia, proboscis
cerebellum and brain stem o Turner syndrome
• Appears hypoechoic • Fetuses often hydropic
• Not to be mistaken for posterior fossa • Look for "domed" extremity edema,
cyst Down syndrome edema more truncal
o Brain: Supratentorial • Cystic Hygroma
• Presence of complete falx excludes o Look for internal septations on axial
alobar/semilobar holoprosencephaly images
• Look for "butterfly" sign of choroids to o Look for other stigmata of Down/Turner
exclude alobar/semilobar syndrome
holoprosencephaly • Central Nervous System Anomalies, Severe
o Skull vault o Exencephaly
• Ossification visible by - 12 weeks • No skull vault echo
o Abdomen • Brain seen "too well" initially with
• Physiologic herniation of bowel is a eventual destruction
normal embryological process • Look for amniotic bands as etiology
• Bowel leaves peritoneum ...•base of o Anencephaly
umbilical cord ...•rotates 270 then
0 • Look for "frog eye" appearance
re-enters abdominal cavity • No skull or brain above orbits
• Re-entry complete by 11.2 weeks o Occipital encephalocele
gestational age • Confirm defect from different scan
• Never normal to see liver in base of cord planes to avoid confusion with cystic
o Limbs hygroma
• Limb buds develop by 9 weeks o Alobar holoprosencephaly
• Femur can be measured by 13 weeks, • Butterfly sign of choroid will be absent
visible earlier • Look for monoventricle/fused thalami
• Hands and feet fully formed by 13 weeks • Congenital Heart Defects
o Amniotic fluid o Use color Doppler as well as high
• Produced by membranes in first trimester resolution grayscale imaging
1
24
ABNORMAL FIRST TRIMESTERFETUS "TI
.•..•
;;j"
-t
o All fetuses with increased NT should have • Will be toward the anomalous fetus in
3"
formal 2nd trimester echocardiography
Helpful Clues for Less Common Diagnoses
TRAP
.•..•
ft)
III
ft)
• Absent Nasal Bone • Autosomal Recessive Syndromes

o Midsagittal plane o 25% recurrence risk, early diagnosis allows
o Normal appearance is 2 bright echoes, one intervention for poor outcome conditions
from skin, shorter, brighter echo from o Meckel Gruber Syndrome
bone • Occipital encephalocele, renal cystic
• Gastroschisis dysplasia, polydactyly
o Bowel loops free in amniotic fluid, no o Achondrogenesis lA,lB
surrounding membrane • Severe micromelia, poor spine
o Cord inserted on abdominal wall, defect ossification, hydrops
usually to the right Other Essential Information
• Omphalocele • NT measurement technique
o Membrane bound defect
o Midsagittal scan plane
o Cord inserted at apex of defect
o Neutral head position
o Never normal to see liver involved in
o Use (+) not (x) cursors
physiologic bowel herniation into base of
o Show amnion separate from nuchal skin
cord
• Transvaginal ultrasound mandatory for
• Conjoined Twins adequate resolution of anomalies
o Monochorionic monoamniotic gestation
• Normal first trimester scan does not exclude
o Fixed relationship of embryos/fetuses with
all anomalies
contiguous skin covering o Some entities change progressively over
• Twin Reversed Arterial Perfusion time
o TRAP: One normal "pump" twin
• Coarctation/aortic stenosis may not have
o One anomalous twin
significant hemodynamic effects until
• Diffuse truncal edema third trimester
• Often subcutaneous cysts in edematous • Aqueductal stenosis often presents as
tissues hydrocephalus in 3rd trimester
• Absent or rudimentary cranial vault
o Always check direction of flow in
umbilical artery of an anomalous twin
Increased Nuchal Translucency Increased Nuchal Translucency
Sagillal ultrasound shows typical increased nuchal

translucency (calipers) of 3 mm in a fetus with trisomy
2 1. In the second trimester nuchal fold skin thickening
translucency =
Sagittal ultrasound al 13 weeks shows increased nuchal
and pleural effusions (not shown).
Subsequently a cystic hygroma developed and genetic
1
and brachycephaly developed. amniocentesis revealed Turner syndrome.
25
•..
.! ABNORMAL FIRST TRIMESTER FETUS
III
CD
E
'C
I-
~
u.. Increased Nuchal Translucency
(Left) Pulsed Doppler
ultrasound at 9 weeks shows
abnormal ductus venosus
flow with reversal during the
A wave HI Follow-up at 13
weeks showed t nuchal
translucency. At birth infant
had a non-lethal,
short-limbed, skeletal
dysplasia. (RighI) Axial
transvaginal ultrasound in a
fetus with cystic hygroma El!I
shows only right globe =:I &
suggests hypoplastic left
midface. The brain also
looked abnormal. Pregnancy
termination revealed both
trisomy 21 & trisomy 9.
Cystic Hygroma
(Left) Transvaginal
septated cystic hygroma 1llII.
(RighI) Transabdominal
ultrasound two weeks later
at 15 weeks shows skin
edema =:I and bifateral
pleural effusions IllII
indicating hydrops. Fetal
demise occurred but the
couple declined autopsy.
Development of hydrops in a
fetus with cystic hygroma
confers a dismal prognosis.
Central Nervous System Anomalies, Central Nervous System Anomalies,

Severe Severe
(Left) Axial ultrasound of the
fetal head shows fused
thalami III. monoventricle
IllIl and thin brain mantle
Elll consistent with alobar
holoprosencephaly.
Chorionic villus sampling
revealed trisomy 13. (RighI)
Axial 3D ultrasound shows
two hemispheres posteriorfy
with a falx El!I and choroid
echoes 1llII. Anteriorfy the
falx is absent, and there is a
rnonoventricle • indicating
semilober
holoprosencephaly in a 12
week fetus.
1
26
ABNORMAL FIRST TRIMESTER FETUS ."~.
-
..•
-I
3'
Central Nervous System Anomalies, Central Nervous System Anomalies, (l)
Ul
Severe Severe
(Leh) Coronal transvaginal
..•
CD
ultrasound shows
progression of findings of
exencephaly between 9 and
12.5 wks. At 9 wks tbere is a
definite head but the shape
is somewhat irregular III.
(Right) Sagittal
the same fetus as the prior
image at 12.5 wks shows
exencephaly with absent
calvarium.
neural tissue =
and exposed
Central Nervous System Anomalies, Central Nervous System Anomalies,

Severe Severe
(Leh) Coronal transvaginal
ultrasound of another
exencephaly shows
amorphous tissue = without
a surrounding ossified skull
vault. Bony orbits. are
visible in the face. (Right)
Coronal ultrasound shows
complete lack of cerebral
tissue but an intact falx =.
Brainstem II1II herniation into
the supratentorial space can
be confused with thalamic
fusion in holoprosencephaly,
however the presence of a
falx verifies the diagnosis of
hydranencephaly.
Congenital Heart Defects Congenital Heart Defects

(Left) Axial transvaginal
ultrasound in a fetus with
increased nuchal
•
.- translucency and normal
~.~--~
..~
.
. •
chromosomes shows a
ventricular septal defect.
between the left l1li and the
right EllI ventricles. (Right)
.r
r.: '~r7
...
Axial color Doppler
..
~ -,~
--. ..
.
--.
.. .•.. -
.
...•.
4~_
--~
~ .
ultrasound in the same fetus
as the previous image
confirms the diagnosis of a
ventricular septal defect IllIl
in the tste first trimester.
_
~
-'-~...
.. '
-. ~
". : -
-
.. . - ..
~ . ::5
::ar-_"_ _
1
27
ABNORMAL FIRST TRIMESTER FETUS
Congenital Heart Defects Congenital Heart Defects

(Leh) Axial ultrasound at 13
ventricle =-
weeks shows a single
The spine is
indicated by the 1m. The
fetus also had increased
nuchal translucency. (Right)
Axial transvaginal ultrasound
in another fetus with
increased NT but normal
chromosomes shows a
hypoplastic left heart. The
left ventricle =
is much
smaller than the right E!ll It
does not extend to the apex
of the heart and did not have
blood flow on color Doppler
evaluation.
Absent Nasal Bone Absent Nasal Bone
to show a nasal bone

Nuchal translucency
=-
fLeh) Sagittal ultrasound fails
measured> 9Sth percentile

and ductus venosus flow was
abnormal. Chorionic villus
sampling revealed trisomy
27. (Right) Sagiual
ultrasound shows no
identifiable nasal bone •.
The nuchal translucency
measurement was normal.
The patient was 40 years old
and opted for amniocentesis.
The results were normal
male, and the neonate was
normal.
Gastroschisis Omphalocele
(Leh) Axial color Doppler
loops =
ultrasound shows bowel
exterior to the
abdomen adjacent to a
normal cord insertion site
1111 typical
01 gastroschisis.
(Right) Sagittal
transabdominal ultresound in
a fetus with a cystic hygroma
• shows solid tissue
an abdominal wall defect
in=
consistent with an
omphalocele. The patient
elected to terminate the
pregnancy without
chromosome analysis.
1
28
ABNORMAL FIRST TRIMESTER FETUS ."~.
-
..•
-l
3"
III
til
;-
Conjoined Twins Conjoined Twins ..•
(Leh) Transvaginal
ultrasound shows conjoined
twins in the first trimester.
There is a single chorionic
sac III with two embryos
(calipers) seen in close
apposition. There is only one
yolk sac III and no dividing
membrane. (Right)
Ultrasound shows cranial
fusion in another case. The
profife of one twin. is seen
fused to an axial plane EilII of
the other twin's head.
Common vessels were seen
between the brains as well as
a contiguous bone and skin
covering.
Twin Reversed Arterial Perfusion Twin Reversed Arterial Perfusion

(Leh) Segittsl transvaginal
ultrasound shows an
abnormal, grossly edematous
twin fetus with absent cranial
structures Ill. Umbilical
artery flow toward the
placenta from the normal
twin all was seen. (Right)
Pulsed Doppler ultrasound in
the same case as the
previous image shows
umbilical artery flow is
towards the abnormal fetus
proving the diagnosis of twin
reversed arterial perfusion.
Autosomal Recessive Syndromes Autosomal Recessive Syndromes

(Leh! Axial transvaginal
ultrasound showed a large
occipital encephalocele with
herniation of the cerebellum
all. (Right) Coronal
image shows bilateral,
enlarged, cystic kidneys
(calipers and 1Illi. These are
typical features of Meckel
Gruber syndrome, an
autosomal recessive disorder
with a 25% recurrence risk.
1
29
FIRST TRIMESTER MEMBRANES
__ DIFFERENTIAL DIAGNOSIS Helpful Clues for Common Diagnoses

Common • Dichorionic Diamniotic Twins
• Normal Chorioamniotic Development o Two complete echogenic rings created by
• Dichorionic Diamniotic Twins two chorions
• Monochorionic Diamniotic Twins • Thick echogenic membrane between two
• Monochorionic Monoamniotic Twins sacs
• Creates twin peak membrane in second
less Common trimester
• Triplets and Beyond o Two amnions
• Septate Uterus (Mimic) o Two YS
• Resolving Perigestational Hemorrhage o Two embryos
• Twin Demise • Monochorionic Diamniotic Twins
• Increased Nuchal Translucency (Mimic) o One echogenic ring = one chorion
o Two amnions
_--.:..:ESSENTIAl INFORMATION • Thin membrane between sacs

• No twin peak sign
Key Differential Diagnosis Issues o Two YS
• Must know normal early pregnancy o Two embryos
development • Monochorionic Monoamniotic Twins
• Chorion o One echogenic ring = one chorion
o Thick, echogenic ring visible as double o One amnion
decidual sac sign (DDSS) o One YS
• Inner sac is gestational sac (decidua o Two embryos
basalis, decidua capsularis) • Ensure embryos are separate to avoid
• Outer sac is endometrium (decidual missing conjoined twins
parietalis) • If apparent monochorionic twins on first
o Chorionic frondosum trimester transabdominal scan always do
• Normal focal thickening in chorion at transvaginal scan to look for membrane
8-13 weeks; first trimester placenta
Helpful Clues for less Common Diagnoses
• Amnion
o Thin delicate membrane inside echogenic
• Triplets and Beyond
chorionic ring o Count echogenic chorionic rings
o Count amnions or YSif very early
o Yolk sac (YS)develops later but thick
echogenic wall - visible earlier o Count embryos once cardiac activity
o In multiple gestations infer amnionicity visible
o Determine chorionicity/amnionicity
from number of yolk sacs
o "Double bleb" sign: Yolk sac + amnion on
• Same impact on prognosis in higher
either side of embryonic disc order multiples as in twins
o Amnion expands rapidly to surround
• Septate Uterus (Mimic)
o Patient may be aware or have suggestive
embryo
o Embryo inside amnion, YSoutside
history
o Amnion abuts chorion by 14-16 weeks,
• Recurrent abortion, preterm labor
o Gestational sac may appear eccentric in
membranes no longer visible as separate
layers location
o Apparent "membrane" will be thick
• Space between amnion and chorion = extra
embryonic coelom space (chorionic cavity) • Echogenicity similar to myometrium
o 3D scans useful
o Fluid echogenic due to protein content
• Do not confuse with perigestational • Evaluate fundal contour
hemorrhage (blood between chorion and • Look for continuity of septum with
myometrium) fundal myometrium
o Fluid inside amnion is normally anechoic
• Assess orientation/location of sac to
1 exclude cornual ectopic
30
FIRST TRIMESTER MEMBRANES .":i"
• Resolving Perigestational Hemorrhage • In case of twin demise significant
-
..•
-l
3'
o Often history of spotting/vaginal bleeding morbidity to surviving twin CD
III
o Hypoechoic material deep to echogenic o Monoamniotic twins at additional risk for iD
..•
chorion cord accidents
•. Shape, echogenicity and volume change o Early identification allows appropriate
over time monitoring with early intervention for
o Crescentic shape complications
• Membranes are spherical Alternative Differential Approaches
• Twin Demise •• • Abnormal First Trimester Membranes
o One gestational sac stops growing o Empty amnion sign
o Cardiac activity ceases
• Reliable indicator of failed first trimester
o Embryo may resorb completely
pregnancy
("disappearing twin") • Mean sac diameter> 18 mm without
• Increased Nuchal Translucency (Mimic) visible embryo inside amnion = "empty"
o Key element in measurement is
amnion
identification of amnion distinct from • Yolk sac may be seen between amnion
nuchal translucency (NT) and chorion
• Watch for fetus to move away from o Chorionic bump
amnion • Abnormal focal protuberance from
• Midsagittal plane chorionic surface
Other Essential Information • Associated with 50% loss rate in assisted
• Best imaging tool reproduction population
o Use transvaginal ultrasound for maximum • Do not mistake "chorionic bump" for
resolution embryo: Embryo should be inside
• Prognosis in multiple gestation depends on amnion
chorionicity o Chorioamniotic separation
o First trimester is best time to determine • Persistent unfused amnion and chorion>
chorionicity 14-16 wks (not truly a first trimester
o Monochorionic twin complications diagnosis)
• Twin-twin transfusion syndrome • Associated with aneuploidy/fetal
• Twin reversed arterial perfusion anomalies
• Unequal placental sharing
Normal Chorioamniotic Development Normal Chorioamniotic Development
Axial transvaginal ultrasound shows shows the double

decidual sac sign. The inner ring 1:11 is the decidua
Transvaginal ultrasound shows the "double bleb II
appearance created by adjacent amnion III and yolk

1
capsularis and the outer ring E!lII is the decidua sac ilia within the chorionic sac HI
parietalis. The yolk sac III is a specific sign of IUP.
31
Normal Chorioamniotic Development Normal Chorioamniotic Development

(Left) Transvaginal
embryo (calipers) within the
enlarging amnion III The
yolk sac III is outside the
amnion and will eventually
be obliterated as the amnion
abuts the chorion. (Right)
shows echogenic fluid in the
chorionic cavity" around
the anechoic fluid within the
amniotic sac III (chorion
indicated by ElIi. Compare
to perigestational
hemorrhage which occurs
deep to the chorion.
Dichorionic Diamniotic Twins Monochorionic Diamniotic Twins

(Left) Transvaginal
ultrasound shows two
chorionic sacs. forming a
thick inter-twin membrane
Elill One yolk sac" is seen;
the second was present on
other scan planes. (Right)
shows two amnions.
within a single chorion Elill
The amnions will come
together to form a thin
inter-twin membrane with no
intervening chorion. Note
embryos IIIl are inside the
amnions, while yolk sacs are
outside (one yolk sac is
partially visible).
Monochorionic Monoamniotic Twins Triplets and Beyond

(Left) Transvaginal
ultrasound show two fetuses
•• surrounded by a single
amnion IlII. Only one yolk
sac Ei1 is seen. This indicates
monoamniolic twinning.
(Right) Sagittal oblique
transvaginal ultrssound
shows two chorionic rings
•• with three yolk sacs Elill
Follow-up images confirmed
the presence of two amnions
in the anterior sac. Therefore
this is a dichorionic,
triamniotic triplet pregnancy.
1
32
"[
-t
~.
3
CD
Septate Uterus (Mimic) Septate Uterus (Mimic)

(Lefl) Transvaginal
..•
~
ultrasound at 6 weeks post
LMP shows a gestational sac
III to the left side of the
uterus in a patient with a
known septum III. (RighI)
Transvaginal ultrasound at
1 J weeks in the same case
shows the fetus III to the left
of the septum ilia with
decidualized endometrium
Ell to the right of the
septum. Note straight fundal
contour.
Resolving Perigestational Hemorrhage Resolving Perigestational Hemorrhage

(Leh) Axial transvaginal
intrauterine fluid collections
_ IlIV that may be
confused for two gestational
sacs. The true gestational sac
III is thick-walled and
contained a yolk sac on
other views. The apparent
membrane Ell is the wall of
the gestational sac. (RighI)
Sagittal transvaginal
patient as the previous image
shows that the hemorrhage
III is flattened or oblong in
shape and does not have a
thick wall.
Twin Demise Increased Nuchal Translucency (Mimic)

(Left) Transvaginal
gestational sacs. in a
dichorionic twin pregnancy.
The smaller sac failed to
grow from earlier scans, and
there was no embryo within
it, consistent with twin
demise. (RighI) Sagittal
ultrasound with the tetus
away from the amnion ••
clearly shows increased NT
•. Chorionic villus sampling
results were normal but at 14
weeks EV sonography
showed a ventricular septal
defect.
1
33
FIRST TRIMESTER PELVIC PAIN

Common • Hemorrhagic Cyst
o Usually from hemorrhage into a corpus
• Hemorrhagic Cyst
• Corpus Luteum Cyst luteum
o Acute and subacute findings
• Ectopic Pregnancy
• Reticular lace-like pattern
Less Common • Fibrin strands not true septations
• Adnexal Torsion • Retracting blood clot
• Appendicitis o Findings on follow-up
• Fluid-fluid level
ESSENTIAL INFORMATION • Anechoic cyst
o Mass should resolve completely with time
Key Differential Diagnosis Issues • 6 week follow-up recommended
• First rule out ectopic pregnancy (EP) o Role of Doppler
o Is there an intrauterine pregnancy (IUP)? • No internal flow
• Presence of IUP best evidence against EP • Rule out associated torsion
• Heterotopic ectopics are rare • Corpus Luteum Cyst
o Is the human chorionic gonadotropin o Abbreviated CL
(hCG) level high enough to see an IUP? o Variable wall appearance
• Should see IUP if hCG levels are> 2000 • Thick, hyperechoic wall most common
mIU/mL IRP (international reference • Thin wall if large cyst
preparation) o Variable internal echoes
o Lack of IUP at low hCG levels does not • Anechoic
rule out EP • Complex if hemorrhagic
• EP are not normal pregnancies and may • Solid appearing if thick wall and no fluid
have lower hCG levels o Doppler findings
o Look for blood in cul-de-sac • Low resistive vascular flow in cyst wall
o Look for an adnexal mass • No internal flow
• EP itself or a hematoma o Rule out associated torsion
• Look for EP on same side as the corpus • Ectopic Pregnancy
luteum o Uterine findings
• Evaluate ovary on side of pain • Thin or thick endometrial cavity
o Is the ovary enlarged? • "Pseudogestational sac" from blood in
• Consider torsion endometrial cavity
o Is there a mass or mass-like lesion? • Endometrial cysts can mimic early IUP
• Characterize mass wall • Rare heterotopic pregnancy (IUP + EP)
• Evaluate internal morphology o Variable adnexal findings with tubal EP
o Doppler ultrasound • Tubal distention or hematoma
• Variable findings with torsion • Tubal gestational sac separate from ovary
• Compare with other ovary • EP on same side as CL in 85%
• Peripheral flow in EP ("ring of fire") and o Doppler findings
ovarian cysts • Low resistive, high velocity flow
• Internal flow in neoplasm • "Ring of fire"
• Rule out other causes for pain o Peritoneal blood
o Gastrointestinal • Echogenic fluid in cul-de-sac
• Compression ultrasound for appendicitis • Look higher up for abdominal blood
• Inflamed bowel o Unusual EP locations
o Genitourinary • Interstitial/cornual
• Hydronephrosis • Cervical
• Ureteral calculi • Ovarian
• Pyelonephritis • Abdominal
1
34
FIRST TRIMESTER PELVIC PAIN ."
[
....
..•
o Other imaging may be necessary
• MR
3'
ell
• Adnexal Torsion Ul
• CT S'
..•
o Usually involves both ovary and tube
o Ovary is almost always enlarged Other Essential Information
• Right> left (3:2) • Clinical differentiation between causes of
• Peripheral cysts from central edema acute pelvic pain is difficult and good
• Fluid-debris levels in cysts seen with high imaging is essential
resolution scanning o Appendicitis and torsion both have
o Doppler findings increased white count
• Venous flow lost first • Rule out diagnoses sequentially
• Variable arterial findings secondary to o First rule out EP
dual blood supply to ovaries o Next rule out ovarian causes for pain
o Associated adnexal mass common o Finally rule out appendicitis
• Dermoid • Ovarian mass may be difficult to
• Corpus luteum differentiate from adnexal mass near the
• Tubal cyst ovary
• Serous cystadenoma o Use pressure from transvaginal probe to
o Free fluid in cul-de-sac separate ovary from mass
• Mostly anechoic • Other imaging may be necessary
• Appendicitis o Try to avoid CT in first trimester
o Appendix may be in an atypical position o Must weigh maternal status with need for
• Gravid uterus lifts appendix out of pelvis imaging
• Have patient point to focal area of o High morbidity to patient and fetus if
tenderness missed or delayed diagnoses
o Graded compression ultrasound with high o Consider MR for appendicitis
resolution linear probe • All complex ovarian masses must be
o Blind-ending tubular structure followed to resolution
• > 6 mm outer to outer wall diameter o Ovarian neoplasm diagnosed during first
• Periappendiceal fluid trimester often removed surgically in
• Echogenic fat surrounds inflamed second trimester
appendix
• Inflammatory mass if ruptured
• Associated adjacent lymphadenopathy
Hemorrhagic Cyst
lace-like echoes from fibrin strands

consistent with a retracting clot
=-
Transvaginal ultrasound show« a large cyst with internal
an appearance shows the cyst =
Axial ultrasound of the same ovary two weeks later
is almost completely anechoic, with
the exception of a fluid-debris level EllI. Eventually, the
1
cyst completely resolved.
35
•..
.! FIRST TRIMESTER PELVIC PAIN
III
GI
E
.~
I-
~ Corpus luteum Cyst Corpus luteum Cyst

u: (Left) Transverse ultrasound
shows a large, thin-walled,
anechoic cyst HI arising
from the ovary". The 14
week gravid uterus III is
anterior to the cyst. (Right)
Sagittal ultrasound shows a
corpus luteum cyst l1:li
within the right ovary HI. It
has a more typical
thick-walled appearance
with minimal internal
echoes.
(Left) Sagittallransvaginal
uterine cavity with a thick
decidual reaction. in a
patient with an hCG level of
3000 mlUlmL. (Right)
Corona/transvaginal
ultrasound shows an ectopic
gestational sac l1:li adjacent
to an ovary E!ll which
contains a hypoechoic
corpus luteum III. This
unruptured ectopic was
successfully treated with
methotrexate.
(Left) Coronal ultrasound

shows a tubs! gestational sac
l1li adjacent to the right
ovary l1:li. (Right) Coronal
color Doppler ultrasound in
the same patient as previous
image, shows the classic
"ring of fire " appearance of
ectopic pregnancy. The
gestational sac wall contains
vascular trophoblastic tissue
and "lights up" with color
Doppler.
1
36
FIRST TRIMESTER PELVIC PAIN
Ectopic Pregnancy Ectopic Pregnancy

ultrasound shows a "pseudo
gestaUonalsac" =_
Endometrial fluid may mimic
an intrauterine pregnancy_
shows a large complex
adnexal mass lEI and
echogenic fluid lEI in the
same patient as the previous
image. A ruptured ectopic
pregnancy was found at
surgery.
Adnexal Torsion Adnexal Torsion

(Left) Sagittal oblique color
an enlarged ovary with
peripherally displaced
follicles lEI and no significant
blood flow. (Right)
Transverse ultrasound in the
same case, shows a midline
large unilocular cyst"
anterior to the cervix HI. At
surgery, adnexal torsion
involving a paraovarian cyst
was diagnosed.
Appendicitis
(Left) Axial transabdominal
ultrasound shows a
appendix =-
non-compressible, distended
Note that the
tubular structure is blind
ending l1li and surrounded
by echogenic fat. (Right)
Axial NECT in another
patient shows a distended
appendix E!lI and mesenteric
inflammation lEI. The
appendix is behind the
gravid uterus and was not
seen with ultrasound.
1
37
ADNEXAL MASS IN FIRST TRIMESTER
DIFFERENTIAL DIAGNOSIS • Linear echogenic hair

• Hyperstimulation Syndrome
Common o Bilateral enlarged, cystic ovaries
• Corpus Luteum Cyst o Ascites ± pleural effusions
• Ovarian Teratoma • Due to increased vascular permeability
• Hyperstimulation Syndrome o History of in vitro fertility treatments
• Theca Lutein Cysts • Usually in women undergoing ovulation
• Endometrioma induction
• Ovarian Neoplasm o Usually suspected due to clinical
Less Common presentation
• Pedunculated Fibroid • Abdominal pain
• Paraovarian Cyst • Nausea/vomiting
• Hydrosalpinx • Oliguria
• Electrolyte imbalances
Rare but Important
• Hypotension
• Heterotopic Pregnancy • Theca Lutein Cysts
o Most often seen in clinical setting of
ESSENTIAL INFORMATION infertility treatments
o Rarely present with singleton pregnancy
Key Differential Diagnosis Issues o Enlarged ovaries
• Determine if mass is ovarian • Multiple simple cysts
o Use TV probe to push ovary away from
• Usually bilateral
uterus or mass o Look for abnormal fetus
• Concurrent manual compression on low • Gestational trophoblastic disease
abdomen/pelvis can be helpful • Triploid fetus
o Distinguish para ovarian or adnexal mass
• Fetal hydrops
from ovarian mass by direct visualization • Endometrioma
during manipulation o Diffuse, homogeneous, low-level echoes
• Look for secondary findings o Unilocular cyst
o Echogenic free fluid (hemorrhage)
• Occasionally multilocular, may mimic
Helpful Clues for Common Diagnoses malignancy
• Corpus Luteum Cyst o Through transmission present
o Very commonly identified in first trimester o Can have fluid-fluid level if multiple ages
o Often complicated by hemorrhage of of blood present
varying degrees o Look for echogenic foci with comet-tail
• Look for typical reticular echoes seen in artifact in the wall
hemorrhagic cysts • Collections of cholesterol
• Occasionally hemorrhage will appear o Most often ovarian in location
homogeneous and simulate solid mass • Can be seen in broad ligament,
o "Ring of fire" appearance with Doppler cul-de-sac, adjacent to bowel
imaging • Ovarian Neoplasm
o Most resolve by early second trimester o Varying appearances depending on tissue
• Ovarian Teratoma of origin
o Most common ovarian neoplasm in • Solid mass: Sex-chord stromal tumors
reproductive age group • Complex cystic: Epithelial ovarian
o Echogenic dermoid "plug" often present tumors
• Represents keratin o Suspicious ovarian masses can be further
o Appearance varies depending on content characterized with MR
of teratoma Helpful Clues for Less Common Diagnoses
• Cystic/hypoechoic fat or fat fluid level • Pedunculated Fibroid
• Echogenic teeth/bones o Usually hypoechoic to myometrium
1
38
ADNEXAL MASS IN FIRST TRIMESTER on
o Heterogeneous echotexture may be present Helpful Clues for Rare Diagnoses

-..
~.
-l
3"
• Hemorrhage with retracted clot • Heterotopic Pregnancy CD
• Cystic degeneration
• Calcifications
o Suspect if adnexal mass with history of ..
~
fertility treatments
o Use Doppler to look for vascular
• 10-40% risk of ectopic pregnancy in
connection to underlying myometrium fertility patients
o 50% of fibroids grow in size in the first 20
• 1:100-500 risk of heterotopic pregnancy
weeks of pregnancy in patients undergoing assisted
o May be painful
reproductive technologies
• Degenerating fibroids o Assess for intact gestational sac
• Twisting of pedunculated fibroid on stalk • ± Embryonic pole/heart beat
• Paraovarian Cyst o Beware of tubal or adnexal clot
o Located in broad ligament
• Can be difficult to identify if isoechoic
o Round or oval mass medial to ovary
• Adjacent bowel loops should show
o Almost always unilocular and anechoic
peristalsis
• Infrequently may be multilocular or have o Watch for secondary signs of ruptured
minimal debris ectopic
o Cyst moves separately from ovary with use
• Echogenic free fluid
of vaginal probe • Fluid tracking into upper abdomen
• Hydrosalpinx • Clinical peritoneal signs ± hypotension
o Thin-walled tubular structure
o Anechoic fluid within Other Essential Information
• If internal debris present, consider • Radiographic suspicion of malignancy will
hematosalpinx or pyosalpinx if patient is guide clinical management of ovarian
very ill masses
o Look for thin endosalpingeal folds o Most benign-appearing masses will be
• "Beads on a string" or "cog wheel" observed through pregnancy
appearance o Monitor for signs of ovarian torsion if
• Aids in confirmation that the "mass" is mass is large
actually hydrosalpinx o Malignant-appearing masses should be
• Transvaginal ultrasound mandatory for managed surgically despite pregnancy
visualization o Surgery usually performed in the second
trimester
Transvaginal ultrasound at 1J weeks gestation shows a

9 em anechoic left corpus luteum cyst" Note there is
Color Doppler ultrasound at 5 weeks gestation shows a
hemorrhagic corpus luteum cyst • with a typical
1
only a thin hypoechoic rim of visible ovarian tissue •. surrounding ring of vascularity HI
This decreased to J cm at 17 weeks gestation.
39
•..
.! ADNEXAL MASS IN FIRST TRIMESTER
III
Ql
E
.;:
••••..
l!! Ovarian Teratoma
u: (Leh) Longitudinal
shows a variant corpus
luteum cyst, with fine
reticular echoes III
indicating hemorrhage. It is
surrounded by a thin
ecbogenic rim Eill The ovary
is marked with calipers.
shows an 8 em ovarian mass
with linear echoes (hair mJ
and an echogenic "plug"
81. Dermoid cysts are the
most common ovarian
neoplasm discovered during
pregnancy.

ultrasound shows 2
gestational sacs in the uterus
of an IVF patient with
hyperstimulation syndrome.
Anechoic free fluid ~ is
present in the pelvis. (Right)
Axial ultrasound of the same
IVF patient shows a
hyperstimulated ovary
measuring up to 19 em
(calipers). The patient also
had severe shortness of
breath due to large pleural
effusions.
Theca lutein Cysts Theca lutein Cysts

(Left) Transverse
shows a uterus filled with
cystic material. consistent
with a complete
hydatidiform mole. The
patient presented with early
hypertension at 15 weeks
gestation by LMP. (Right)
Longitudinal transvaginal
ultrasound (same patient!
shows enlarged ovaries (left
ovary shown, calipers)
measuring up to 5 x 8 em.
There are multiple associated
theca lutein cysts, some of
which are complicated by
hemorrhage Ill.
1
40
ADNEXAL MASS IN FIRST TRIMESTER ."
i
..
-l
3"
CD
Endometrioma Ovarian Neoplasm
(Leh) Transvaginal
..
Ul
CD
ultrasound shows a
hypoechoic ovarian
endometrioma. in a
patient with history of
endometriosis. Note the
homogeneous, low-level
internal echoes, which differ
from the lace-like echoes of a
hemorrhagic corpus luteum.
(Right) Power Doppler
ultrasound shows a solid and
cystic 5 em borderline
ovarian tumor 11:1 in a
pregnant patient. Unlike a
hemorrhagic corpus luteum,
there is vascularity HI in the
solid components.
Pedunculated Fibroid Paraovarian Cyst

(LehJ Transverse
embryo 1lII. Adjacent to the
uterus in the left adnexa,
there is a large cystic and
solid degenerated fibroid 1:1
with a bridge of myometrium
ElII confirming the site of
origin. (Right) Sagittal
gestational sac 1:1 with a 9
em anechoic paraovarian
cyst ElII displacing the
bladder 1:1 caudally. The
ovaries were identified
separately (not shown).
(Left) Longitudinal
shows a thin-walled, tubular
cystic structure" in the
right adnexa, consistent with
a hydrosalpinx. (Right)
ultrasound of the adnexa
shows a gestational sac 1:1
with surrounding clot ~
consistent with a ruptured
tubal ectopic in a patient
with an early intrauterine
pregnancy.
1
41
SECTION 2
Central Nervous SystelD
Brain
Absent Cavum Septi Pellucidi 2-2
Mild Ventriculomegaly 2-6
Hydrocephalus 2-10
Fluid-filled Calvarium 2-14
Intracranial Cysts: Midline 2-18
Intracranial Cysts: Lateral 2-24
Abnormal Brain Parenchyma 2-28
Absent Calvarium 2-32
Abnormal alvarium 2-36
Microcephaly 2-42
Macrocephaly 2-46
Intracranial Calcifications 2-50
Intracranial Mass 2-52
Posterior Fossa Cyst/Fluid Collection 2-56
Abnormal ere bellum 2-60
Spine
Spinal Mass 2-64
Abnormal Spine Position 2-68
Abnormal Vertebral Column 2-74
ABSENT CAVUM SEPTI PELLUCIDI
DIFFERENTIAL DIAGNOSIS o CSP appears as a fluid-filled "box": White

line/black space/white line appearance
Common o Fornices: Series of parallel black and white
• Incorrect Scan Plane lines without intervening fluid-filled space
• Agenesis of the Corpus Callosum • Agenesis of the Corpus Callosum
• Chiari II Malformation o Mild ventriculomegaly or colpocephaly
• Severe Hydrocephalus o Lateral ventricles are parallel instead of
less Common divergent
• Holoprosencephaly Spectrum o Coronal images show "steer horn"
o Alobar Holoprosencephaly appearance of frontal horns
o Semilobar Holoprosencephaly o Lack of normal anterior cerebral artery
o Lobar Holoprosencephaly branch pattern into callosomarginal and
pericallosal arteries on midline sagittal
Rare but Important view
• Septo-Optic Dysplasia o Stenogyria: Radiating "sunburst" pattern of
• Schizencephaly medial cerebral gyri
• Syntelencephaly o MR very helpful to look for additional
brain malformations
ESSENTIAL INFORMATION • Heterotopia, lissencephaly, gyral
abnormalities
Key Differential Diagnosis Issues • Chiari II Malformation
• Scan technique is very important o Ventriculomegaly with "boxy" appearance
o Cavum septi pellucidi (CSP) should be the
of frontal horns
landmark for measurement of biparietal o "Banana" sign: Cerebellar prolapse into
diameter and head circumference foramen magnum causes cerebellum to
o Coronal images also helpful if fetal head curve around brainstem
position makes correct axial plane difficult o Obliteration of cisterna magna
• CSP seen between frontal horns inferior o "Lemon" sign: Bifrontal concavity
to corpus callosum • Severe Hydrocephalus
• Cavum septi et vergae is an anatomic variant o Severe hydrocephalus leads to "blown out
that may cause confusion cavum"
o Cavum vergae is posterior continuation of • Fenestrations appear in leaves of septum
CSP,usually obliterates posterior to secondary to elevated cerebrospinal fluid
anterior so not seen in standard 18-20 pressure
week scan • Eventually leaves of cavum may be so
o If present ...•elongated, larger, fluid-filled thinned as to be invisible or torn
space which may be confused with o Most likely to occur with aqueductal
interhemispheric cyst stenosis
o No other abnormalities present
• Normal CSP signifies normal midline brain Helpful Clues for less Common Diagnoses
development • Alobar Holoprosencephaly
o If absent, significant malformation may be o Supratentorial brain without division into
present though not immediately apparent cerebral hemispheres
o "Rind", "cup", or "pancake" of cerebral
Helpful Clues for Common Diagnoses tissue associated with monoventricle ±
• Incorrect Scan Plane dorsal cyst
o If scan plane too high or too low CSP not
o Head may be large if large dorsal cyst, or
seen small and rounded in shape
o Fornices are normal structures which
o Associated with severe facial malformation
create parallel echoes inferior to normal o Look for stigmata of trisomy 13
location of CSP • Semilobar Holoprosencephaly
2
2
ABSENT CAVUM SEPTI PELLUCIDI o
o Some division into cerebral hemispheres o Lateral ventricle on side of defect is

-
CD
:J
!.
z
posteriorly but fusion anteriorly distorted ~ tenting toward area of CD
parenchymal loss ~
o Head shape often round o
c:
o Look for stigmata of trisomy 13 or 18 o Bilateral giant open lip schizencephaly III
looks very similar to hydranencephaly UI

• Lobar Holoprosencephaly -e
o Two cerebral hemispheres are formed • Key observation is that walls of a ~
o May be single gyrus in continuity across schizencephalic cleft are lined by grey 3
midline matter
o Midline fusion anomalies seen • Important distinction as
• Fused fornices create a round "mass" in hydranencephaly is lethal
the third ventricle • Giant open lip schizencephaly is
associated with neurological impairment
but is not necessarily lethal
• Septo-Optic Dysplasia
o Absent CSP associated with variable
• Syntelencephaly
o Considered variant of holoprosencephaly
hypothalamic pituitary dysfunction and
spectrum by some
visual impairment
o Two hemispheres are present but with
o Mild dilatation of frontal horns
some fusion of the dorsal aspect of cerebral
o "Flat top" appearance to frontal horns
hemispheres
o MR used to exclude additional
• Most common site of fusion is posterior
malformations
frontal lobe
• Optic nerves and chiasm beyond
resolution of fetal MR at present Other Essential Information
o Diagnosis is confirmed by clinical and • Absent CSP is often the tip-off for
ophthalmological evaluation of infant underlying brain abnormality
• Schizencephaly • Agenesis of corpus callosum is associated
o Cortical defect extending from ventricular with many other brain malformation as well
surface to pia as innumerable syndromes
o May be "closed" or "open", unilateral or o Counsel parents that outcome highly
bilateral variable
o Size of defect varies from very small to • Septooptic dysplasia associated with visual
giant, involving most of frontoparietal impairmentfblindness as well as potential
cortex hypothalamic pituitary dysfunction
Incorrect Scan Plane Incorrect Scan Plane
Axial oblique ultrasound of the felal head shows the

parallel lines produced by the fornices • which lie demonstration of the line =-
Axial oblique ultrasound shows the correct plane for
space • line III or
2
inferior 10 the CSP.This should nor be confused with the box-like structure of the normal cavum sept! pellucidi.
cavum, which should appear as a fluid-filled "box".
3
E ABSENT CAVUM SEPTI PELLUCIDI
i
(I)
III
~
~ Agenesis of the Corpus Callosum Agenesis of the Corpus Callosum
GI
Z (Leh) Coronal ultrasound at
~
c:
GI
of the cavum =
19 weeks shows no evidence
evidence of a corpus
nor any
(J callosum. There is a
suggestion of steer horn
configuration PIill of the
frontal horns. (Right) Sagittal
the same case confirms the
suspicion. Normally the
anterior cerebral artery =
gives rise to callosomarginal
and pericallosal branches
that run along the corpus
callosum. The PIill indicates
where these vessels should
be seen.
Chiari II Malformation Severe Hydrocephalus

ultrasound shows
ventriculomegaly EB a
"banana" cerebellum =
obliteration of the cisterna
=
magna EiI and absent cavum
denotes expected
location). (Right) Coronal
T2WI MR shows lack of
midline structures ~
attributed to a "blown out"
CSP secondary to severe
hydrocephalus. This is a
fetus with aqueductal
stenosis. Note the
compressed cortical mantle
B
Alobar Holoprosencephaly
(Leh) Axial T2WI MR shows
a "hall" ~ of brain tissue
with a monoventricle ~ and
a large dorsal cyst ~ There
is complete absence of
midline structures including
the CSP. (Right) Axial T2Wf
MR shows a round head
shape with frontal lobe
fusion EB but separate lobes
~ posteriorly. Note the falx
~ posteriorly.
2
4
ABSENT CAVUM SEPTI PELLUCIDI o
ID
a
i
z
ID
~
C
(Left) Coronal T2WI MR III
shows an absent CSP but
intact corpus callosum •.
!fIII
(Right) Coronal T2WI MR lD
more anteriorly in the same 3
=
case, shows gyral continuity
across the midline. The
neuropathology literature
defines lobar
holoprosencephaly as having
at least one gyrus in
continuity. Fetal imaging
literature is less stringent,
including midline anomalies
such as fused fornices as
signs of lobar
holoprosencephaly.

ultrasound shows how subtle
septo-optk: dysplasia can be.
The infant was diagnosed
shortly after delivery. Review
of 08 scans showed no
pictures of the cavum ('111m
denotes expected location).
There were no other
findings. (Right) Axial T2WI
=-
MR shows an absent CSP
defect
and a parenchymal
with the edges
lined by grey matter 1:1:1.
Other images showed a
similar defect on the other
side making this bilateral
open lip schizencephaly.
an absent CSP =
(Left) Axial T2WI MR shows
but
formation of two cerebral
hemispheres with frontal E!lI
and occipital III lobes.
(Right) Coronal T2WI MR in
the same case shows gyral
continuity E!I in the midline
horns =-
at the level of the temporal
This is the typical
appearance of
syntelencephaly which has
been described in
association with 13q-
deletion.
2
5
E MILD VENTRICULOMEGALY
i
II)
DIFFERENTIAL DIAGNOSIS • Corpus callosum (CC) forms anterior to
III
:l posterior
~ Common • Posterior CC may not form
Gl
Z • Idiopathic o Colpocephaly
• Trisomy 21 • Teardrop-shaped lateral ventricle:
~ • Agenesis of the Corpus Callosum
C Pointed frontal horns with posterior
Gl
U • Aqueductal Stenosis, Early dilatation (in region of atria)
• Chiari II Malformation, Early • "Trident-shaped" frontal horns in coronal
Less Common view
• Trisomy 18 • Frontal horns laterally displaced and
• Trisomy 13 parallel
• Encephalomalacia o Absent cavum septi pellucidi if complete
o 50% with other brain anomalies
o 10-20% with aneuploidy
ESSENTIAL INFORMATION o 3% of all mild ventriculomegaly cases have
Key Differential Diagnosis Issues agenesis of CC
• Definition of mild ventriculomegaly is a • Aqueductal Stenosis, Early
lateral ventricle which measures 10-12 mm o Narrowing or occlusion of aqueduct of
• Lateral ventricle measurement Sylvius
o Part of routine anatomic survey • Distended lateral and 3rd ventricles
o Measure atria at level of choroid plexus o Obstructive hydrocephalus
glomus • Ventricles often normal or only mildly t

o Normal measurement in 2nd trimester
• < 10 mm from 14-40 wks • Severe hydrocephalus common in 3rd
• Mean diameter of 7.6 mm (± 0.6 mm) trimester
• Normal ventricular width is 70% of • Progressively t head measurements
hemicalvarium at 18 wks and 30% of o X-linked form
hemicalvarium at 28 wks • Bickers-Adams syndrome
• < 5% of all aqueductal stenosis cases
Helpful Clues for Common Diagnoses • 50% recurrence risk in male fetuses
• Idiopathic • Adducted thumbs
o 90% of isolated ventriculomegaly is
o 90% with mental retardation
idiopathic and has a normal outcome • More severe if X-linked diagnosis
o 30% resolve in utero
• Chiari II Malformation, Early
o More common in male fetuses, especially
o Hindbrain herniation
when presenting> 20 wks o Almost always with spina bifida
• Larger calvarial volume o Posterior fossa compression
• Trisomy 21 • Cisterna magna obliteration
o Look for other markers
• Compressed cerebellum
• Nuchal thickening (~ 5 mm) • "Banana sign" if cerebellum wraps
• Short femur/humerus around midbrain
• Echogenic bowel o Frontal calvarial findings are non-specific
• Intracardiac echogenic focus and transient
• Renal pelviectasis • "Lemon-shaped" skull from narrow
• Absent nasal bone anterior-pointing frontal bones
o Associated major anomalies
• Dolichocephaly
• Atrioventricular defect o Variable amount of ventriculomegaly
• Duodenal atresia • 33% progress during pregnancy
• Esophageal atresia • 90% with ventriculomegaIy at birth
• Agenesis of the Corpus Callosum o Open spina bifida (no skin covering)
o Agenesis may be complete or partial
• Bony dorsal arch defect
2
6
MILD VENTRICULOMEGALY o
CD
a
Cystic degeneration is late finding ~
• Neural content exposure (± sac) o
z
o 40% with additional anomalies o Vascular causes CD
• Hypoperfusion from any cause C!

o 4% with aneuploidy o
c
Helpful Clues for Less Common Diagnoses • Intracranial hemorrhage (II
• Trisomy 18
o Hallmark is multiple major anomalies and
intrauterine growth restriction
o Infectious and teratogen causes
• Cytomegalovirus (most common)
• Toxoplasmosis
i
3
o Brain anomalies in 30%
• Varicella/Zoster
• Vitamin A
• Ventriculomegaly
• Chiari II malformation Other Essential Information
• Dandy-Walker continuum • Should we offer amniocentesis?
• Cerebellar hypoplasia o 4% with aneuploidy (likelihood ratio is 9)
o Second trimester markers o t Diagnosis of congenital infection
• Choroid plexus cyst • Should we perform fetal MR?
• "Strawberry-shaped" skull o Additional anomalies seen in 8%
(brachycephaly) o Helpful for more subtle anomalies
• Single umbilical artery o Best after 28 wks
• Umbilical cord cyst • Is isolated ventriculomegaly truly "isolated"?
• Trisomy 13 o 4% with subsequent brain anomaly
o Multiple major anomalies in > 90% o 9% with non CNS anomalies not
o Holoprosencephaly is hallmark anomaly diagnosed in utero
• Variable severity Alternative Differential Approaches
• Monoventricle • Pay attention to head size
• Fused thalamus • Ventriculomegaly and small head
• Facial anomalies o Trisomy 18
o Second trimester markers rarely isolated
o Trisomy 13
• Echogenic cardiac focus o Encephalomalacia
• Single umbilical artery • Ventriculomegaly and big head
• Encephalomalacia o Aqueductal stenosis
o Brain parenchyma destruction
o Trisomy 21 (brachycephaly is common)
o Early findings often subtle
o Choroid plexus papilloma
• Variable periventricular white matter
heterogeneity
Trisomy 21
Axial ultrasound shows mild lateral ventriculomegaly

(calipers). The cavum sepU pellucidi •• and 3rd
Axial ultrasound shows mild ventriculomegaly in a fetus
with nuchal fold thickening and mild pelviecrasis (not
2
ventricle BI are seen well. The finding was isolated, and shown). The presence of 3 markers is highly suggesUve
the outcome was normal. of aneuploidy.
7
E MILD VENTRICULOMEGALY
i
I/)
III
:l
o
CD
z (Left) Axial ultrasound shows
-
'!
c
CD
(J
a 'teardrop-shaped"
ventricle. The posterior
portion is distended.
the anterior is pointed
lateral
=. and
typical of colpocephaly.
(Right) T2WI MR images
(axial left, coronal right!
show colpocephaly •
elevated third ventricle =.
and parallel frontal horns _
On the coronal vie\rY, a
"trident" appearance of the
frontal horns is seen •.
Absence of the corpus
callosum leads to the
morphologic changes of the
ventricles.
Aqueductal Stenosis, Early Aqueductal Stenosis, Early

(Left) Axial transvaginal
ultrasound shows bilateral
mild ventriculomegaly •• at
20 weeks. This fetus was
male with a sibling with
X-linked aqueductal stenosis.
(Right) Coronal ultrasound of
the hand showed a fist
Neither hand ever opened,
and the thumbs were
adducted. The findings,
along with amniocentesis
results, were diagnostic of a
second child affected with
X-linked aqueductal stenosis.
Chiari II Malformation, Early Chiari II Malformation, Early

frontal bone concavity"
(lemon-shaped calvarium)
and mild ventriculomegaly
(Right) SagiLLal T2WI MR
of the fetal brain and spine
shows mild ventriculomegaly
128 and hindbrain hernial/on
into the foramen magnum
ffi diagnosl/c of Chiari II
malformation. A large spinal
defect is seen involving the
majority of the lumbo-sacral
spine lID. The absence of a
meningomyelocele sac is
noted in this fetus with
myeloschisis.
2
8
MILD VENTRICULOMEGALY o
CD
:l
..•
••
!!!.
z
CD
~
Trisomy 18 Trisomy 18 o
C
(Left) Axial ultrasound shows III
a "dangling choroid" III in a Ul
fetus with mild '<
III
ventriculomegaly" The lD
fetus was small for ilS 3
geslational age and had
multiple olher anomalies.
(Right) Transabdominal
ultrasound of the same fetus
legs=
shows arlhrogryposis. The
were held in
eXlension, and lhe left foot
HI was clubbed. The fetus
also had an absenl stomach
bubble. Mulliple anomalies
and fetal growlh restriclion
are typical for trisomy /8.
(Left) Axial ullrasound shows
mild ventriculomegaly
(calipers). (Right) Axial
ullrasound through lhe
calvarium in the same fetus
shows partial absence of the
falx and fusion of the frontal
lobes Eill This fetus has
sublle semilobar
holoprosencephaly. Severe
facial anomalies were also
present, and amniocentesis
results yielded trisomy 13.
Encephalomalacia Encephalomalacia
mild venlriculomegaly
secondary to cystic
=
periventricuJar degeneration
•. This felUs was a twin in a
pregnancy complicated by
lwinlrwin transfusion. (Right)
Axial ullrasound shows mild
ventriculomegaly (calipers)
and sublle lucencies in the
periventricular white matter
• in a patient with prior
lrauma and placenlal
abruplion. PeriventricuJar
leukomalacia was found at
autopsy.
2
9
..
ECD
III
:0-
HYDROCEPHALUS
I/)
III DIFFERENTIAL DIAGNOSIS • 80% with overlying sac
~ • Aqueductal Stenosis, Late
o Common
~ o Aqueduct of Sylvius narrowing/obstruction
CD
z • Chiari II Malformation • t 3rd and lateral ventricles
..
'!
c:
CD
• Aqueductal Stenosis, Late
• Dandy-Walker Continuum: Classic
• Normal 4th ventricle/posterior fossa
o Progressive hydrocephalus
(.)
Less Common • Initial normal or mild ventriculomegaly
• Intracranial Hemorrhage • Macrocephaly common near term
• Encephalomalacia o X-linked form
• Bickers-Adams syndrome
Rare but Important
• < 5% of all cases
• Obstructing Mass • 50% recurrence risk in male fetuses
• Choroid Plexus Papilloma • Adducted thumbs is additional finding
o 90% with mental retardation
ESSENTIAL INFORMATION • More severe retardation if X-linked
Key Differential Diagnosis Issues o Most severe cystic posterior fossa
• Routine lateral ventricle measurement malformation
o Measure atria of lateral ventricle
• Absent cerebellar vermis
• At level of choroid plexus glomus • Cystic dilatation of 4th ventricle
• Measure inner to inner wall • Variable ventriculomegaly
o Normal atrial measurements o Ultrasound findings
• < 10 mm between 14-40 wks • Splayed cerebellar hemispheres
o Ventriculomegaly
• Small/absent cerebellum if severe
• Mild: 10-12 mm • Posterior fossa cyst
• Moderate: 12-15 mm o Associated findings
• Severe: > 15 mm • Dysgenesis of corpus callosum
• Use transvaginal ultrasound • Encephalocele, neural tube defect
o Cephalic presentation
• Cleft lip/palate
• Frontal fontanelle as acoustic window • Cardiac defects
o Best for corpus callosum visualization
• Polycystic kidneys
• Color Doppler to show pericallosal artery
Helpful Clues for Common Diagnoses • Intracranial Hemorrhage
• Chiari II Malformation o Most common locations include:
o Hindbrain herniation
Subependymal, germinal matrix,
• Causes obstructive hydrocephalus intraventricular, intra parenchymal,
o Variable ventriculomegaly subdural
• 55% at time of diagnosis o Ventriculomegaly from 2 causes
• 33% progress during pregnancy • Brain destruction ~ ventricular
o Variable calvarial measurements
expansion
• Normal or small in 2nd trimester • Intraventricular bleed ~ obstructive
• Macrocephaly if t ventriculomegaly hydrocephalus
o Posterior fossa compression
o Ventricle findings
• Small or obliterated cisterna magna • Hyperechoic intraventricular clot
• Variable cerebellar compression • Echogenic cerebrospinal fluid
• "Banana sign" if cerebellum wraps • Bulky irregular choroid plexus
around midbrain • Echogenic irregular ependyma
o "Lemon-shaped" calvarium
o Causes
• Frontal bone narrowing and "tenting" • Maternal/fetal t or ~blood pressure
o Almost always with spina bifida
• Trauma
• 90% lumbosacral • Thrombocytopenia/coagulation disorders
2
10
HYDROCEPHALUS ()
ID
.•.~
::I
• Lateral ventricle most common !!.

• Infection z
• Fetal arteriovenous malformation o Mass may also obstruct ventricle causing ID
asymmetric enlargement C!
• Encephalomalacia o
~
o Brain parenchyma destruction Other Essential Information
III
o Ultrasound findings
en
• Early: Periventricular heterogeneity
• Normal hypoechoic brain can mimic
ventriculomegaly
.•.
'<
III
ID
• Late: Cystic change 3
o Use "dangling choroid" sign
o Causes
• Choroid "dangles" in a distended
• Hypoperfusion from any cause ventricle
• Infection • Choroid lies almost parallel to falx in
• Teratogen exposure normal ventricle
Helpful Clues for Rare Diagnoses • Confirm hydrocephalus with multiple views
• Obstructing Mass o 3D ultrasound helpful
o Mass or mass-like lesions obstruct • Asymmetric hydrocephalus is rare
cerebrospinal flow o Gravity dependent ventricle often slightly
o Cystic mass t compared to other ventricle
• Arachnoid cyst • Role ofMR
• Glioependymal cyst o Additional brain anomalies seen in 8%
• Cystic teratoma • Aneuploidy rates
o Solid mass o Dandy-Walker continuum: 50%
• Solid teratoma o Chiari II: 4%
• Astrocytoma or other rare tumor o Aqueductal stenosis: < 5% X-linked
• Choroid plexus papilloma o Others: No t risk
o Mass-like lesion Alternative Differential Approaches
• Vein of Galen malformation • Use posterior fossa view to help with
• Arteriovenous fistula differential
• Intracranial hemorrhage o Small posterior fossa
• Choroid Plexus Papilloma • Chiari II
o Hydrocephalus from over production of
o Large/cystic posterior fossa
cerebral spinal fluid (CSF) • Dandy-Walker continuum
• Often rapid onset o Normal posterior fossa
o Well-defined, lobular, hyperechoic mass
• Aqueductal stenosis
o Occurs anywhere in ventricular system
Chiari II Malformation Chiari II Malformation
Axial ultrasound 01 the fetal head shows a "dangling"

choroid plexus •• in a distended lateral ventricle. The
3D ultrasound of spina bifida in the same fews shows a
distal meningomyelocele sac III splaying of the dorsal
2
third ventricle E!II and near field lateral ventricle =:I are lumbosacral spine ossification centers HI and a skin
also dilated. defect on the back 1Ill.
11
-
E
GI
III
>-
U)
III
HYDROCEPHALUS
:l
o
~ Chiari II Malformation Chiari II Malformation
GI
Z (Left) Axial ultrasound
~
-
C
GI
(.)
through the ventricles in a
second trimester fetus shows
severe ventriculomegaly
and a "lemon-shaped"
calvarium with {rontal bone
=
"tenting" and narrowing B
(Right) Axial ultrasound of
the posterior fossa, shows a
"banana-shaped"
cerebellum" The posterior
fossa is compressed and the
cerebellum wraps around
the midbrain Eil These
findings are diagnostic of
Chiari II. The spine must now
be examined carefully to find
the spina bifida.
Aqueductal Stenosis, Late Aqueductal Stenosis, Late

markedly distended lateral
ventricles =. (Right) 3D
ultrasound of the fetal hands
= in the same case showed
consistently clenched hands
and adducted thumbs. The
fetus was male and X-linked
aqueductaf stenosis was
suspected. Chromosome
analysis confirmed the
diagnosis.
Dandy-Walker Continuum: Classic Dandy-Walker Continuum: Classic

(Left) Sagittal T2WI MR of a
second trimester fetus shows
a large posterior fossa cyst
and ventriculomegaly
_ (Right) Axial T2WI MR
of the same fetus shows
splaying of the cerebellar
hemispheres and
absence of the cerebellar
vermis. The fourth ventricle
appears to be contiguous
with the cyst.
2
12
HYDROCEPHALUS o
..
CD
::J
••
III
Z
CD
~
Intracranial Hemorrhage Intracranial Hemorrhage
C
o
(Left) Axial ultrasound in a III
third trimester pregnancy CIl
complicated by maternal '<
III
parenchymal =
thrombocytopenia shows a
and
intraventricular I!II
If
3
hemorrhage. The lateral and
third HI ventricles are also
markedly distended. (Right)
Coronal oblique ultrasound
of the same fetus shows the
=
parenchymal hemorrhage
In addition, the choroid
plexus is nodular HI and the
ventricular lining is
echogenic IIIl suggesting the
presence of intraventricular
blood.
Encephalomalacia Encephalomalacia
(Left) Coronal T2WI MR in a
fetus with prior cerebral
hemorrhage and ischemia
shows severe hydrocephalus
cysts=
and parenchymal brain
Porencephaly is a
late finding with
encephalomalacia. (Right)
Neonatal head ultrasound of
the donor twin in a
pregnancy with twin-twin
transfusion shows cystic
encephalomalacia HI from
The ventricles =
chronic hypoxia in utero.
and
extra-cerebral spaces 11II
expand to fill the space left
by destroyed brain.
Obstructing Mass Choroid Plexus Papilloma

(Left) Coronal T2WI MR
shows an interhemispheric
glioependymal cyst ffi The
frontal horns of the lateral
ventricles" are markedly
distended secondary to
obstruction of CSF flow at
the foramen of Monro.
mass =
shows a lobular, hyperechoic
within the atrium of
the dilated lateral ventricle
IEl!l Hydrocephalus is the
result of overproduction of
CSF.
2
13
..
EII
III
>.
FLUID-FILLED CALVARIUM
In • Alobar (most severe)

III DIFFERENTIAL DIAGNOSIS
=o~ Common
• Semilobar (intermediate type)
• Lobar (subtle)
II
Z • Severe Hydrocephalus o Ventricle findings
..
'!
c::
II
• Holoprosencephaly Spectrum
• Hydranencephaly
• Monoventricle
• Dorsal sac
o Less Common o Variable absent midline structures
• Dandy-Walker Continuum: Classic • Cavum septi pellucidi
• Severe Schizencephaly • Falx
• Corpus callosum
Rare but Important
• 3rd ventricle
• Large Arachnoid Cyst • Variable fused thalamus
• Large Glioependymal Cyst o Brain mantle appearance
• "Pancake": Flat at skull base
ESSENTIAL INFORMATION • "Cup": Partially surrounds monoventricle
• "Ball": Mantle surrounds monoventricle
Key Differential Diagnosis Issues o Associated facial anomalies
• Routine lateral ventricle measurement • Hypotelorism ~ cyclopia
o Measure atria
• Abnormal nose ~ proboscis
• At level of choroid plexus glomus • Median or bilateral cleft lip/palate
• Inner-to-inner wall measurement o Associations
o Normal is < 10 mm between 14-40 wks
• Trisomy 13 (most common)
• Routine brain anatomy assessment • Trisomy 18
o Falx
• Maternal diabetes
o Cavum septi pellucidi
• Hydranencephaly
o Thalamus
o Complete cerebral hemisphere destruction
o Choroid plexus
o Etiology
o Cerebellum
• Vascular occlusion
o Cisterna magna
• Hemorrhage
• Use vaginal ultrasound if fetus cephalic • Hypotension
• MR helpful for differential diagnosis • Infection
Helpful Clues for Common Diagnoses o Imaging features
• Severe Hydrocephalus • Absent cerebral hemispheres
o > 15 mm lateral ventricular (LV) • Present falx
o Thin cortical mantle • Normal posterior fossa
• Compressed by ventricles • Normal or splayed thalamus
o "Dangling" choroid • Variable head size
• Choroid does not fill LV • No flow in middle or anterior cerebral
• Bilateral "dangling" if opposite choroid arteries
falls through foramen of Monro Helpful Clues for less Common Diagnoses
o Cavum septi pellucidi often absent
• Fenestrations in wall from t pressure o Dysgenesis of cerebellar vermis
o Macrocephaly if obstructive cause
• Absent
o Causes
• Severely hypoplastic
• Aqueductal stenosis o Cystic dilatation of 4th ventricle
• Dandy-Walker continuum • Ventricle communicates with cisterna
• Chiari II malformation magna
• Holoprosencephaly Spectrum • Posterior fossa cyst
o Early arrest of brain cleavage and rotation
o Associated brain findings
• Variable severity • Agenesis of corpus callosum
o No clear division between different types
• Hydrocephalus
2
14
o
-
FLUID-FILLED CALVARIUM CD
~
iil
• Encephalocele • Large Glioependymal Cyst z
• Neural tube defect o Intracranial cyst with ependymal lining CD
;!
o Careful with diagnosis before 18 wks o Typically midline o
C
• Vermis not fully formed < 18 wks • Frontoparietal III
en
• Normal 1st trimester rhombencephalon
is large and cyst-like
• Severe Schizencephaly
o Can cause obstructive
o Can look identical to

hydrocephalus
arachnoid cyst -
'<
III
CD
3
o Brain cleft
• Pitfalls
• Wedge-shaped defect o Shadowing from skull may cause
• Filled with cerebrospinal fluid (CSF) calvarium to look fluid-filled
• Extends from ventricle to brain surface • Use orthogonal planes
• Lined with gray matter • Use transvaginal ultrasound if vertex
o Most common in cerebral hemispheres o Severe hydrocephalus can mimic
• Unilateral in 60% hydranencephaly
• Bilateral in 40% • Look for compressed brain mantle
o Variable size
• MR is helpful
o Associated brain anomalies o Structures may be present but compressed
• Absent cavum septi pellucidi • Corpus callosum
• Septo-optic dysplasia • Cavum septi pellucidi
• Heterotopia • Use MR to better evaluate anatomy
• Polymicrogyria
• Pachygyria Alternative Differential Approaches
o Etiology • What does the posterior fossa look like?
• Neuronal migration anomaly o Compressed with Chiari II
o Cystic with Dandy-Walker
Helpful Clues for Rare Diagnoses o Normal with aqueductal stenosis
• Large Arachnoid Cyst • What does the brain mantle look like?
o CSF cyst within layers of arachnoid o Thinned but normal with hydrocephalus
o Location (fetal series)
o Absent with hydranencephaly
• Most common over cerebral convexities o Small and abnormal with
• ]I, in posterior fossa
holoprosencephaly
o May grow rapidly in utero o Compressed and displaced with cysts
• Obstructive hydrocephalus o Partially absent with schizencephaly
o Agenesis of corpus callosum in SOlo
Severe Hydrocephalus Severe Hydrocephalus
Axial ultrasound shaws severe hydrocephalus from

aqueductal stenosis. The falx Il'.l is present, and the
Coronal ultrasound of the same fetus shaws compressed
brain=:I along the falx and calvarium. The presence of
2
calvarium is fluid-filled, secondary to severe a normal thalamus Ea and cerebellum helps with
ventriculomegaly. the differential diagnosis.
15
-
E
QI
III
>-
II)
III
FLUID-FILLED CALVARIUM
:;,
o
~ Severe Hydrocephalus Severe Hydrocephalus
QI
Z (Left) Axial T2WI MR shows
-•..
ii
C
QI
severe hydrocephalus. A thin
but intact cortical mantle
is seen. (Right) Coronal
=
o T2WI MR in the same fetus
fossa =
shows a normal posterior
with an intact
cerebellar vermis E!lI and falx
11II. These features help rule
out hydranencepha/~
holoprosencepha/~ and
Dandy-Walker continuum.
Holoprosencephaly Spectrum Holoprosencephaly Spectrum

a fluid-filled calvarium with a
=-
partial anterior brain mantle
There is no falx or
significant/aleral ventricle
cleavage. Instead, there is a
monoventricle. (Right)
fused thalami =-
of the same fetus shows
Multiple
other anomalies were a/so
seen in this case, and
amniocentesis test results
identified trisomy 13.
Hydranencephaly
(Left) Axial ultrasound at 14
weeks shows a fluid-filled
calvarium with complete
falx =
lack of cerebral tissue. The
and brainstem E!lI are
present. With
hydranencepha/~ the
brainslem can herniate
upwards and mimic fused
thalami. (Right) Sagiaal
T2WI MR in another fetus
shows a fluid-filled calvarium
without any discernible
cerebral tissue. This fetus
had a normal brain
ultrasound at 78 weeks, prior
to a significant maternal
traumatic event.
2
16
FLUID-FILLED CALVARIUM o
CD
~
i
z
CD
Dandy-Walker Continuum: Classic Dandy-Walker Continuum: Classic <

o
c:
(Left) Sagittal oblique III
ultrasound of the posterior en
fossa in a 3rd
shows a large cyst =-
trimester fetus
cerebellum was compressed

and not seen. (Right)
The -
'<
III
CD
3
in a 2nd trimester fetus
shows a posterior fossa cyst,
compressing the cerebellar
hemispheres HI. This fetus
also has agenesis of the
corpus callosum (CC).
Because the CC is absent,
the falx IIlII extends directly
to the ventricles, which have
a pointed "t,;denl shape"
1IlI.
Severe Schizencephaly Severe Schizencephaly

shows bilateral giant
schizencephaly clefts
extending from the ventricle
to the undersurface of the
calvarium III The thalami
are not fused HI.
distinguishing the diagnosis
from holoprosencephaly.
(Right) Coronal T2WI MR of
the same fetus confirms the
presence of bilateral large
clefts and a normal
cerebellum IIIIl. In addition,
the fetal MR demonstrates
that the clefts are lined by
gray matter ffi
large Arachnoid Cyst large Glioependymal Cyst

(Left) Sagittal T2WI MR
shows a large left
supratentorial arachnoid cyst
=. This cyst progressively
enlarged during pregnancy
and caused ventriculomegaly
HI. (Right) Coronal T2WI
MR shows a large midline
brain cyst associated with
agenesis of the corpus
callosum and obstructive
hydrocephalus. The midline
location suggests
glioependymal cyst. Its
appearance is otherwise
identical to an arachnoid
cyst.
2
17
E INTRACRANIAL CYSTS: MIDLINE
S
III
>-
II)
DIFFERENTIAL DIAGNOSIS o Colpocephaly (tear-drop shaped ventricles)
III
;:, o "Steer horn" or "trident" configuration of
o Common
~ frontal horns on coronal view
lD
Z • Cavum Vergae o Abnormal branch pattern of anterior
"! • Agenesis of the Corpus Callosum cerebral artery
••C • Dandy-Walker Continuum: Classic o Stenogyria: Gyri in radial "sunray"
lD
(.) • Dandy-Walker Continuum: Variant distribution in sagittal plane
• Alobar Holoprosencephaly • Dandy-Walker Continuum: Classic
• Semilobar/Lobar Holoprosencephaly o Vermis severely hypoplastic or absent
• Arachnoid Cyst o Cystic dilatation of 4th ventricle
less Common o Large posterior fossa with big CSF cyst
• Glioependymal Cyst o 4th ventricle appears "open" and
• Cystic Teratoma contiguous with cyst
• Syntelencephaly o Elevation of torcular
o Ventriculomegaly may be present
Rare but Important
• Dandy-Walker Continuum: Variant
• Vein of Galen Malformation o Inferior vermis absent/dysplastic
• Arteriovenous Fistula o Torcular position normal
o Posterior fossa not enlarged
I ESSENTIAL INFORMATION o "Keyhole" appearance of 4th ventricle
• Alobar Holoprosencephaly
Key Differential Diagnosis Issues o Monoventricle
• Is it a vascular structure? o Absent CSP
• Could it be a thrombosed arteriovenous o Absent falx
fistula (AVF)? o Often abnormal facies
• Where is it? • Hypotelorism, cyclopia, facial cleft
o Supratentorial
• Proboscis, absent nose, ethmocephaly,
• Are there 2 separate cerebral cebocephaly
hemispheres? o Associated with aneuploidy, particularly
• Is the corpus callosum (CC) intact? trisomy 13
• Are there any solid components? • Semilobar/Lobar Holoprosencephaly
• Is it simple or multiloculated? o Monoventricle anteriorly
o Infratentorial
o Absent CSP
• Is the cerebellar ~ermis normal? o Separation into two lobes posteriorly
• Is the cyst in continuity with the 4th o May be associated with abnormal facies
ventricle?
• Arachnoid Cyst
• Is the torcular (confluence of sinuses) o Extra-axial, avascular, simple
elevated?
o Majority over convexities but may be
Helpful Clues for Common Diagnoses midline
• Cavum Vergae • Y3 in posterior fossa in the fetus
o Anatomic variant
o Cavum vergae is the posterior extension of
• Glioependymal Cyst
the cavum septi pellucidi (CSP) o Avascular, may be multiloculated
• Agenesis of the Corpus Callosum o More commonly midline and associated
o Absence of CC and high-riding 3rd
with agenesis of corpus callosum
ventricle create prominent midline
• Cystic Teratoma
cerebrospinal fluid (CSF) space o Part cystic, part solid mass
o Associated with midline cysts (usually
o Gross distortion of cerebral architecture
glioependymal) o Hydrocephalus
o Absent CSP
o Polyhydramnios
o Parallel lateral ventricles
• Syntelencephaly
2
18
INTRACRANIAL CYSTS: MIDLINE o
II
:J
••
o Separate ventricle anteriorly and • Porencephalic cyst i.
z
posteriorly • Microcephaly II
o Parietal gyral continuity

~
Other Essential Information o
C
o Fusion of ventricles in prefrontal area III
• Prognosis varies with etiology en
o Associated with 13q-deletion
• Syndactyly
o Cavum vergae: No clinical significance
o Agenesis of the corpus callosum
..
'<
III
II
• Hypoplastic thumbs 3
• Prognosis depends on any associated
Helpful Clues for Rare Diagnoses syndromes/brain malformations
• Vein of Galen Malformation o Dandy-Walker continuum
o Elongated tubular midline vascular • Outcome worse for classic malformation
structure • Cognitive outcome depends upon
• Aneurysmal dilatation of median associated syndromes/other brain
prosencephalic vein of Markowski malformations
o Located in cistern of velum interpositum o Holoprosencephaly spectrum
and quadrigeminal plate cistern • Alobar: Many die in utero, rare survival
o Look for enlarged neck vessels beyond neonatal period reported
o Look for cardiomegaly/hydrops from high • Semilobar/lobar outcome varies with
output state type and severity of malformation
o May cause hydrocephalus • Developmental delay, seizure disorder,
o May cause ischemic encephalomalacia hypothalamic pituitary malfunction and
• Arteriovenous Fistula visual impairment all reported
o Tubular structures in midline o Arachnoid or glioependymal cyst
o Look for flow on Doppler • Prognosis depends on underlying brain
o Thrombosed AVFlooks hypoechoic, low malformation
level internal echoes, occasional echogenic • Shunt placement required for obstructive
clot within hypoechoic area hydrocephalus
o Associated with intracranial hemorrhage o Cystic teratoma
• Echogenic clot in ventricle • Dismal prognosis; 97% mortality if
• Echogenic ependyma diagnosed before 30 weeks
o Associated with ischemic o Vascular malformations
encephalomalacia • Poor outcome if associated intracranial
• Loss of grey white matter differentiation hemorrhage or ischemic
• Ventriculomegaly encephalomalacia
Axial oblique u/lrasound shows an elongated, fluid-filled

space =:I in the midline. There was no flow, and the
Axial oblique T2WI MR shows the elongated, fluid-filled
cavum vergae =:I
lying between the lateral ventricles
2
remaining brain was normal. This is typical of a cavum HI. This is an anatomic variant of no clinical
vergae. significance.
19
SIII
>-
In
III
::J
o
GI
Z (Left) Coronal T2WI MR
shows a "steer horn"
'! configuration of the anterior
••
C
GI horns" absence of the
U corpus callosum lilt and
increased CSF space
between the hemispheres BII
that can be mistaken for a
midline cyst. (Right) Axial
NECT in a newborn shows
colpocephaly" a typical
finding in agenesis of the
corpus callosum. Note the
interhemispheric collection
of cerebrospinal fluid Bl
which can mimic a a midline
cyst.
Agenesis of the Corpus Callosum Agenesis of the Corpus Callosum

a large interhemispheric cyst
= in association with
callosum. This has mass
effect, displacing the left
cerebral hemisphere away
from the midline. (Right)
Coronal T2WI MR shows
callosum ~ with an
interhemispheric cyst EE and
cortical dysplasia BII in a
female fetus. The final
diagnosis was Aicardi
syndrome.
Dandy-Walker Continuum: Classic

(Leh) Axial oblique
ultrasound shows a posterior
fossa cyst. in direct
contact with the brainstem
Illl due to the absence of the
vermis. (Right) Axial T2WI
cyst=
MR shows a posterior fossa
and absence of the
vermis HI which were
associated with elevation of
the torcular on sagittal views.
These are the typical features
of the Dandy-Walker
malformation.
2
20
INTRACRANIAL CYSTS: MIDLINE o
CD
~
••
!.
z
CD
~
Dandy-Walker Continuum: Variant o
C
(Left) Axial oblique II>
ultraso~nd shows a cleft in Ul
the inferior vermis = in '<
III
continuity with the 4th lD
ventricle" Thecisterna 3
magna is not dramatically
enlarged, nor was the
lorcular elevated. (Right)
deficient inFerior vermis =
but presence of the superior
vermis Ell. This fetus had
mulliple other anomalies
including hypoplastic left
heart. The infant did not
survive, and autopsy was
declined.
(Leh) Axial oblique

ultrasound of a fetus shows
fused thalami" and a
fluid-filled monovenlricle
findings typical of alobar
=
holoprosencephaly. (Right)
of the neonawl head in lhe
same case as previous image
confirms thalamic fusion 11II
and monoventricle Ell.
typical for alobar
holoprosencephaly.

the small, abnormal brain 11II
and monoventricle ~
displaced anteriorly by the
large dorsal sac ~ filled
with cerebrospinal fluid.
(Right) Gross pathology in a
similar case shows a
posterior view of the cranial
cavity which has been
"bivalved". The anteriorly
placed, simple brain ~
shows no evidence of
cleavage into hemispheres
and the wall of the deflaled
dorsal sac is seen
adjacent to the reflected
calvarium
2
21
.!
III
en>.
III
~
o
~ Semilobar/lobar Holoprosencephaly Arachnoid Cyst
CD
Z (Leh) Axial oblique
~
c
o
-
CD
ullfasound shows an anterior
monoventricle IlIl The
thalami are not fused and
there are separate choroid
plexus echoes IIIindicating
some attempt at formation of
hemispheres, as seen in
semi/abar
holoprosencephaly. (Right)
Axial oblique ultrasound
shows an extra-axial
interhemispheric cyst III
lying posterior to the third
ventricle HI. This stayed
stable during the pregnancy
and the infant was
asymptomatic at birth.
Arachnoid Cyst Glioependymal Cyst

(Leh) Coronal color Doppler
as the previous image shows
no internal vascularity. This
is the typical appearance of
an arachnoid cyst. (Right)
Axial T2WI MR shows a
multiloculated
interhemispheric cyst
associated with cortical
dysplasia involving the left
cerebral hemisphere IIIin a
fetus with agenesis of the
corpus callosum.
Clioependymal cysts are
more likely to be
multiloculated than
arachnoid cysts.
(Leh) Coronal T2WI MR in

the same case as the prior
image shows the cyst and
associated absent corpus
callosum Note the ·steer
horn" appearance of the
frontal horns and
abnormal gyral pattern ~ of
the left cerebral hemisphere.
(Right) Axial ultrasound
shows a complex, midline
echogenic mass III with
cystic and solid components
causing obstructive
hydrocephalus with
dilatation of the occipital
horn" Cystic teratoma
was diagnosed on autopsy.
2
22
INTRACRANIAL CYSTS: MIDLINE (")
-
CD
:l
!.
z
CD
:2
o
C
performed as part of an en
autopsy shows a '<
III
monoventric/e III but Ii
separate germinal matrices 3
HI and thalami 1lII. (Right)
Axial T2WI MR in the same
case shows that there are
separate frontal III and
occipita/llII horns.
Additional images showed
gyral continuity in
association with the
monoventricle indicating
syntelencephaly. In this case
amniocentesis revealed a
13q-deletion.
Vein of Galen Malformation Vein of Galen Malformation

ultrasound shows a posterior
midline "cyst" containing an
echogenic focus III.
Doppler was negative, and
the adjacent brain appeared
normal. Working diagnosis
was thrombosed vein of
Galen malformation. No
vemriculomegaly or signs of
encephalomalacia
developed. (Right) Sagittal
T1WI MR in the neonate
confirms thrombosed vein of
Galen malformation III with
no evidence of bleeding into,
or ischemia of, the adjacent
brain.
Arteriovenous Fistula Arteriovenous Fistula

(Left) Sagitlal T2WI MR
shows a large, thrombosed
interhemispheric AVF III
with associated
ventriculomegaly IlIl
porencephalic cyst HI and
encephalomalacia
(Right) Coronal T2WI MR
shows a dilated III sagittal
sinus (mistaken for a midline
cyst on ultrasound). Doppler
showed arterialized venous
flow as this is the draining
vein of an AVF Note
associated ischemic cortical
atrophy HI
2
23
E INTRACRANIAL CYSTS: LATERAL
~
>-
en Usually tubular or round
III DIFFERENTIAL DIAGNOSIS o
=o
~ Common Helpful Clues for Common Diagnoses
QI
• Choroid Plexus Cyst • Choroid Plexus Cyst
Z
• Arachnoid Cyst o Cyst> 2 mm with defined wall, within
'! choroid plexus
••
C
QI less Common o Variable size
CJ
• Schizencephaly o Variable number
• Arteriovenous Fistula o May be unilateral or bilateral
Rare but Important o May be single or multiple
• Porencephaly o Look for associated signs of trisomy 18
• Abnormal posturing
• Facial cleft
ESSENTIAL INFORMATION • Congenital heart disease
Key Differential Diagnosis Issues • Neural tube defects
• Assessment of fluid-filled intracranial • Omphalocele
structure • Arachnoid Cyst
• Could it be a prominent normal structure o Extra-axial cyst displaces brain
such as lateral ventricle? parenchyma
o Mild ventriculomegaly o Unilocular
• Choroid displaced from medial wall o Avascular
• Atria of lateral ventricle measures 10-12 o Most common over convexities
mm • ]I, fetal cases are in posterior fossa
• Look for signs of trisomy 21 o May enlarge and cause hydrocephalus due
• Look for additional brain abnormalities to mass effect at foramen of Monro or
o Colpocephaly: Tear drop shape to dilated aqueduct of Sylvius
occipital horns seen in agenesis of corpus Helpful Clues for less Common Diagnoses
callosum • Schizencephaly
• Ventricles parallel o Wedge-shaped defect in brain parenchyma
• Absent cavum septi pellucidi o Extends from lateral ventricle to inner
• Loss of normal branch pattern of anterior table of skull
cerebral artery o Edges of cleft are lined by gray matter
• Stenogyria o Unilateral or bilateral
• Once abnormal lateral ventricle excluded, o Open lip or closed lip
determine location • Open lip: Wedge-shaped defect, edges
o Is it in the choroid plexus? separated by cerebrospinal fluid-filled
o Is it in the brain substance (i.e., cleft
intra-axial)? • Closed lip: Edges of defect are in contact;
o Is it outside the brain substance (i.e., unlikely to be detected on prenatal
extra-axial)? ultrasound
• Is it replacing normal brain tissue? o Size varies from small to "giant"
o Porencephaly o Consider MR to look for associated
o Schizencephaly heterotopia, polymicrogyria, pachygyria,
• Is it a space-occupying lesion displacing septo-optic dysplasia
brain tissue? • Arteriovenous Fistula
o Arachnoid cyst o Hypoechoic structure on grayscale images
o Arteriovenous fistula • Blood flow on Doppler evaluation when
• Is it vascular? patent
• Could it be a thrombosed vascular structure? • Thrombosed AVFis tubular/round
o Hypoechoic structure with increased structure with low level internal echoes
through transmission but no flow on Doppler evaluation
o Often contains faint low level echoes
2
24
INTRACRANIAL CYSTS: LATERAL o
o MR will show blood product signal even • Seen in 50% of fetuses with trisomy 18:
..
CD
:l
••
!.
z
when flow is absent Usually associated with multiple other CD
o May be intra-axial, but dural (i.e., findings

::!o
C
extra-axial) more common in fetus o Arachnoid cyst III
C1I
o May be associated with high output • Prognosis good if isolated '<
III
cardiac failure • May require shunt or excision if large or ••
CD
o May be associated with polyhydramnios causing obstructive hydrocephalus 3
o Look for associated intraventricular or o Schizencephaly
parenchymal hemorrhage • Prognosis highly variable depending on
o Look for associated ischemic damage size and bilaterality
secondary to vascular "steal" • Septo-optic dysplasia is common
• Cortical thinning, ventriculomegaly, association: Visual impairment and
microcephaly hypothalamic/pituitary disturbance
• MR more sensitive than ultrasound for • Bilateral giant open lip schizencephaly -
detection of encephalomalacia severe functional deficit ± epilepsy
o Arteriovenous fistula
• If brain is normal at birth, treatment
• Porencephaly
recommended to prevent complications
o Porencephalic cyst replaces damaged brain
of hydrocephalus, progressive
• Intracerebral cavitation due to injury
neurological deterioration, and acute
• Usually connected with lateral ventricle
bleed
o Look for associated intracranial
• Poor outcome if associated with ischemic
hemorrhage
encephalomalacia
o Destructive process may present with mild
• Occasionally spontaneous thrombosis
ventriculomegaly and progress to
without associated brain injury
encephalomalacia/porencephaly over time
o Porencephaly
Other Essential Information • Significant intellectual impairment,
• Prognosis is variable depending on epilepsy, spasticity, blindness, depending
underlying condition on etiology and extent
o Choroid plexus cysts
• Seen in 1% of normal second trimester
exams: No clinical significance if isolated
finding
Choroid Plexus Cyst Choroid Plexus Cyst
Coronal ultrasound shows bilateral choroid plexus cysts

Ill. While most fetuses with choroid plexus cysts are
30 ultrasound in the same case shows a consistently
clenched fist with an overlapping second finger m
2
normal, such cysts are a marker for trisomy 18 and a typical of trisomy 18. Multiple other anomalies were
careful survey should be performed. also present.
25
E INTRACRANIAL CYSTS: LATERAL
••GlIII
>-
fI)
III
::I
o
~ Arachnoid Cyst Arachnoid Cyst
Gl
Z (Left) Coronal color Doppler
ultrasound shows an
~ extra-axial, simple,
••c:
Gl non-vascular cyst =
(J displacing otherwise normal
brain parenchyma. This is
typical of an arachnoid cyst.
the same case shows a
CSF-intensity arachnoid cyst
•• with mass effect causing
elevation of the temporal
lobe 1Ill. Note the lesion is
not destructive as there is no
volume loss, and there is
preservation of the
hypointense cortical rim of
gray matter EilI.
Arachnoid Cyst Arachnoid Cyst

(Left) Axial oblique T2WI
MR shows a lateral
arachnoid cyst" in a fetus
with semi/abar
holoprosencephalyand
trisomy 13. The falx EilI is
partially present, but there is
anteriorfusion. of the
cerebral hemispheres.
shows a posterior fossa
arachnoid cyst" which
could be confused with a
mega cisterna magna. There
was definite mass effect,
which caused some
remodeling of the cranium
noted after delivery.
Schizencephaly Schizencephaly
ultrasound shows a
wedge-shaped parenchymal
defect" in a fetus with an
absent cavum septi pellucidi.
This is typical of a small,
open lip schizencephalic
defect. (Right) Axial T2WI
MR shows a small
schizencephalic cleft" on
the right, with a CSF-filled
space extending from the
ventricle to the extra-axial
space. Gray matter IlIIlines
the cleft, differentiating this
from porencephaly.
2
26
INTRACRANIAL CYSTS: LATERAL o
CD
~
••
!.
z
CD
~
Schizencephaly Schizencephaly o
c:
(Left) Axial ultrasound shows VI
a typical case o{ bilateral t/l
open lip schizencephaly with
large bilateral cle{ts" The ..
'<
VI
CD
de{ects extend {rom the 3
underlying ventricle to the
inner table o{ the skull.
(Right) Axial oblique NEeT
shows bilateral giant open lip
schizencephaly with large
cle{ts EilI. Note intact gray
matter =:I lining the edges o{
the cle{t.
Arteriovenous Fistula Arteriovenous Fistula

(Leh) Axial ultrasound shows
ventriculomegaly lEI and a
hypoechoic structure 11II
with low-level internal
echoes that was avascular on
color Doppler. (Right) Axial
T2Wf MR in the same case
con(;rms venlriculomegaly
11II and shows mixed signal
blood products within the
thrombosed dural AVF III.
Note the extreme atrophy o{
the adjacent cerebral cortex
E!ll MR is superior to
ultrasound {or the detection
o{ blood products.
Porencephaly
an irregular porencephalic
cyst IIIextending {rom the
lateral ventricle. Note the
associated echogenic
ependyma and
intraventricularclot" This
indicates a grade 4
intracranial hemorrhage.
porencephalic cyst lEI in
communication with a
dilated {rontal horn E!ll Note
the associated
intraventricular
cortical atrophy
clot -= and
2
27
E ABNORMAL BRAIN PARENCHYMA
S
III
>-
I/)
DIFFERENTIAL DIAGNOSIS • Usually "wears away" during gestation
III
='o due to exposure to amniotic fluid and
~ Common mechanical trauma
CD
z • Exencephaly, Anencephaly o Anencephaly
-
'!
U
c
CD
• Destructive Lesions
o Intracranial Hemorrhage
o Encephalomalacia
• No organized neural tissue remaining
o Protuberant "frog-like" eyes due to shallow
orbits
o Cytomegalovirus o Polyhydramnios common due to impaired
o Toxoplasmosis swallowing
Less Common o Fluid often echogenic due to dissolved
• Schizencephaly neural tissue
• Lissencephaly • Intracranial Hemorrhage
• Gray Matter Heterotopia o Echogenic intracranial "mass" without
• Pachygyria-Polymicrogyria vascularity
• Tuberous Sclerosis o Most commonly intra parenchymal
o Use fetal MR to clarify anatomy and
Rare but Important confirm location of clot(s)
• CNS Tumors • If flow voids on T2WI, consider
underlying vascular malformation
ESSENTIAL INFORMATION • Encephalomalacia
o Result of various destructive brain
Key Differential Diagnosis Issues processes
• Define recognizable brain parenchymal o Sonographic findings often subtle
structures • Look for associated ventriculomegaly as
o If no discernible brain structures or skull
first clue
present, consider exencephaly or • Periventricular lucencies due to cystic
anencephaly degeneration (later)
• Decide whether normal brain developed o Porencephaly can occur due to
initially parenchymal destruction
o Look for presence of basic structures:
• Intra-axial, avascular, round or irregular
Gray/white matter, thalamus, cavitary lesion without mass effect
ventricles/choroid, cerebellum/vermis,
• Cytomegalovirus
falx, corpus callosum o Widespread (non-shadowing) calcifications
o If suspect abnormal development, consider
o Most commonly affects brain
entities listed in less common diagnoses • Results in ventriculomegaly,
o If suspect normal development with later
microcephaly
insult, consider destructive lesions o Even in absence of sonographic findings,
• Characterize focal injury versus diffuse with known fetal infections, at least 20%
abnormality such as calcifications have neurologic sequelae
• If intracranial mass present displacing brain • Toxoplasmosis
parenchyma, consider CNS tumor o Non-shadowing intracranial and
o Use color Doppler to evaluate for
intrahepatic calcifications
vascularity • Intracranial: Periventricular or random,
Helpful Clues for Common Diagnoses may be very subtle and easily missed
• Exencephaly, Anencephaly Helpful Clues for Less Common Diagnoses
o No calvarium and no recognizably normal
• Schizencephaly
neural tissue above orbits o CSF cleft extending from surface of brain
o Exencephaly
to underlying ventricle
• Dysmorphic neural tissue may be present o Open-lip is most common type identified
initially in utero
o Can be bilateral
2
28
ABNORMAL BRAIN PARENCHYMA o
o Absent cavum septi pellucidi (CSP) in up

to 70%
• Much more common than complete
lissencephaly
-
z
CD
::J
!.
CD
o Search for associated developmental brain • Can be focal or diffuse ~
o
C
anomalies • Decreased sulcation (incomplete III
• Lissencephaly lissencephaly) en
'<
III
o Smooth contour to brain surface o Polymicrogyria sometimes referred to as S'
• Lack of normal gyral and sulcal cortical dysplasia 3
development • Disorder of neuronal organization
o Cannot assess until third trimester after • Irregular cortical surface
sulcation begins • Can appear flat and smooth due to
• Sulcation normally starts around 23-24 innumerable microgyri
weeks • Seen with in utero ischemia,
• Brain continues to appear "smooth" until chromosomal abnormalities, congenital
approximately 26 weeks CMV
o Look specifically for shallow, poorly • Tuberous Sclerosis
formed Sylvian fissures o Subependymal echogenic tubers can be
o May be linked to genetic defect or identified along wall of ventricles
syndrome o Subependymal giant cell astrocytoma near
• Chromosome 17 mutation foramen of Monro
• X-linked lissencephaly - mothers have o Cardiac rhabdomyoma(s) may be present
band heterotopia o CNS findings often better visualized with
• Walker-Warburg syndrome fetal MR
• Gray Matter Heterotopia Helpful Clues for Rare Diagnoses
o Gray matter cells in an abnormal location
• CNSTumors
• Due to arrested neuronal migration to o Solid intracranial mass with Doppler flow
cortex • Most are supratentorial
o Subependymal: Nodules of gray matter
• May extend through skull base into oral
along ventricular wall cavity
o Subcortical: Heterogeneous masses in
• Size can be massive with rapid growth
subcortical location and hemorrhage
o Band: Homogeneous bands of gray matter
o Significant overlap in appearance of
between lateral ventricles and cortex tumors types
• Pachygyria-Polymicrogyria
o Pachygyria
Exencephaly, Anencephaly
Sagittal transabdominal ultrasound at 72.5 weeks shows

a lack of calvarium and exposed neural !issue •. No tissue of a different fetus at 15 weeks=.
Coronal ultrasound shows some minimal residual neural
Note the
2
visible skull was identified. typical "frog-like" appearance of the face.
29
E ABNORMAL BRAIN PARENCHYMA
••CDIII
>-
U)
III
~
o
~ Intracranial Hemorrhage Encephalomalacia
CD
z (Left) Axia/lransabdominal
ullrasound of a fetus wilh
'!
•• lrisomy 27 shows
c asymmelric dilalalion of lhe
CD
(.) ventricles with
encephalomalacia
Eliology of lhe bleed was
=-
intraventricular clot _ and
never idenlified. (RighI) Axial

lransabdominal ultrasound
shows asymmetric
ventriculomegaly and
porencephaly III in an area
of previously seen
intracranial hemorrhage.
Toxoplasmosis
(Left) Axial NECT in an infanl
with congenital
cytomegalovirus shows
=-
perivenlricular calcifications
There is also cerebellar
hypoplasia E!ll creating an
unusual appearance of the
posterior fossa. (Right) Axial
ultrasound shows
periventricular and
inlraparenchymal
calcificalions =-These
findings are sublle and could
be easily missed without
clinical history of exposure.
Findings were confirmed
poslnalally.
Schizencephaly
bilateral schizencephaly,
wilh clefts extending from
lhe underlying venlricle 10
lhe skull HI (up side more
dilficuhloseesecondaryto
reverberation artifact). A thin
"roofing" membrane is also
seen adjacenl to the inner
table of the skull III. (Right)
Coronal T2WI MR in the
confirms bilaleral clefts HI.
2
30
ABNORMAL BRAIN PARENCHYMA o
-
CD
~
~
Z
CD
~
lissencephaly Gray Matter Heterotopia o
C
(Leh) Coronal T2WI MR in a III
third trimester fetus shows a en
smooth brain with lack of
normal sulcalion. Specifically
note lhe shallow, poorly
formed sylvian fissures lID
-
'<
III
CD
3
(Right) Coronal T2WI MR at
23.5 weeks shows
asymmetric low signal gray
mailer adjacent to the left
ventricle wall Hl consistent
with subependymal gray
matter heterotopia. Further
posteriorly, a schizencephaly
cleft was identified.
Pachygyria-Polymicrogyria
(Leh) Axial T2WI MR in a
felus with an abnormal
occipital lobe on ultrasound
shows abnormal gray mailer
in the left occipital region =:I
even at 21 weeks. (Right)
Axial T2WI MR postnatally
shows a smooth cortical
surface and irregular cortical
organization =:I on the left,
most likely polymicrogyria.
There is a focus of nodular
heterotopia in the same
hemisphere Ea. Note the
=
widened shallow sylvian
fissure
Tuberous Sclerosis eNS Tumors

two small hypointense
subependymal nodules =:I in
a felus with suspected
tuberous sclerosis. Postnatal
MR confirmed the diagnosis.
These findings are subtle and
often missed on prenatal
ultrasound. Fetal MR is
suggested in all suspected
cases of tuberous sclerosis.
shows a large,
heterogeneouslyechogenic,
midline tumor =:I. Histology
confirmed a teratoma.
2
31
E ABSENT CALVARIUM
S
III
>.
rn
III DIFFERENTIAL DIAGNOSIS Helpful Clues for Common Diagnoses
:l
o Common • Exencephaly, Anencephaly
~ o Brain present but not contained within
CD
Z • Exencephaly, Anencephaly
skull vault
~
-
c:
CD
<.>
• Acrania
Less Common
• Amniotic Band Syndrome
• Brain contour lobulated ("Mickey
Mouse") or spiked ("Bart Simpson")
o In first trimester, may present with short
• Skeletal Dysplasia, Mimic crown rump length
o Osteogenesis Imperfecta o Brain subject to trauma from fetal
o Hypophosphatasia movement, abrasion against uterine wall,
o Achondrogenesis etc.
Rare but Important • By third trimester may no longer see
• Twin Reversed Arterial Perfusion (TRAP) recognizable brain due to liquefaction
• Look for echogenic debris in amniotic
fluid
ESSENTIAL INFORMATION o Orbits prominent ...•"frog eye" appearance
o Often associated with cervical/lumbar
spine defects
o Polyhydramnios common
• Acrania
o Absent calvarium above orbits
o Occiput ossifies in cartilage; therefore,
skull base intact
o Meninges may be present
• May provide protective barrier from
erosion
o Multiple defects
o Look for amputation/constriction defects
in extremities
o Look for asymmetric facial cleft
o Look for missing orbit in association with
"anencephalic" appearance
o Key to establishing the diagnosis is
demonstration of bands
• Fine linear structures in amniotic fluid
• Band often "tethers" fetus to uterine wall
• Change maternal position to float fetus
away from uterine wall
• Skeletal Dysplasia, Mimic
o Calvarium is present but poorly ossified
o Brain is seen "too easily"
o Brain morphology is normal
• Even though ossification is abnormal the
brain is protected from erosion/trauma
o Calvarium can be deformed by transducer
pressure
o Osteogenesis Imperfecta
• Multiple fractures
2 • Beaded ribs
32
ABSENT CALVARIUM o
• Short extremity bones

• "Thick" bones
• Prevention in future pregnancies possible
by oral folate supplementation
-
~
CD
::J
z
CD
o Hypophosphatasia o Amniotic band syndrome C!
o
c:
• Thin, bowed long bones • No significant recurrence risk III
o Achondrogenesis • Lethal if associated with acalvaria, major en

'<
III
• Type I associated with poor abdominoschisis If
mineralization of skull and completely • Minor constriction defects are cosmetic 3
unossified spine only with normal life expectancy
• Fractures of ribs but not long bones seen • Skeletal dysplasias mimic absent calvarium
in type Ia due to poor mineralization
• Spine ossification may be seen in • Skeletal dysplasias with poor skull
pedicles in type Ib mineralization often carry poor prognosis
• Type II has normal ossification of the o Osteogenesis Imperfecta: Type II is
skull but deficient ossification of spine perinatal lethal, other forms have variable
Helpful Clues for Rare Diagnoses prognosis
o Hypophosphatasia: Autosomal recessive in
• Twin Reversed Arterial Perfusion (TRAP)
o Multiple gestation
perinatal lethal form
o Achondrogenesis Ia/Ib: Autosomal
• Monochorionic placentation
recessive, type II is sporadic
o Cranium often completely absent
o Upper extremities often poorly developed
• TRAP sequence
o TRAP fetus will not survive
o Even in well-developed TRAP fetus the
o Pump twin at risk for high output failure
brain is abnormal, skull vault may be
o Intervention indicated to prevent hydrops
present but surrounded by marked soft
• Radiofrequency ablation of TRAP twin
tissue edema
cord now procedure of choice
o Hallmark of this diagnosis is reversed flow
in the umbilical artery • Use 3D ultrasound
o Useful in patient counseling
• Flow is away from placenta toward the
o Global view of extremity/head/chest/torso
TRAP fetus
proportions
• Prognosis is lethal if calvarium truly absent
o Anencephaly
• Most die within hours of birth, < 10%
live to one week
Coronal ultrasound image of the fetal face shows

prominent, widely spaced orbits" There is no neural
tissue or cranium above the orbital ridge. This
=
Clinical photograph taken at autopsy confirms the
proptotic appearance of the eyes and the lack of a
cranial vault and contents above the orbital ridge,
2
appearance has been described as "frog-likeH• typical of anencephaly.
33
E ABSENT CALVARIUM
.!
III
>-
II)
III
~
o
~ Acrania Acrania
Gl
Z (Left) Coronal ultrasound
e..
c:
shows brain tissue covered
in a sac" without an
Gl overlying skull. Note the
(.) splaying of the cervical spine
_ Associated neural tube
defects are common. (Right)
Gross pathology in the same
case of acrania shows some
recognizable brain
parenchyma with two
hemispheres ~ seen within
the meningeal sac.
Amniotic Band Syndrome Amniotic Band Syndrome

(Left) Radiograph performed
at autopsy in a case of
amniotic band syndrome
shows the ossified skull base
•• and the amorphous mass
of exteriorized brain I!III with
adherent amniotic band Eill
(Right) Gross pathology from
a different case shows
multiple anomalies caused
by amniotic band syndrome.
Note the large abdominal
defect with herniation of
neural tissue ==
bowel and liver
diagonal cleft lip

exposed
large
and
multiple extremity
amputations EEl.
Osteogenesis Imperfecta Osteogenesis Imperfecta

the malleable head shape ••
of a fetus with osteogenesis
imperfecla. The poorly
ossified bone does not reflecl
much of the ultrasound
beam; therefore, brain detail
is remarkably well seen for
the third trimester. The fact
that the brain is normal
indicates a mimic, rather
than a truly absent
calvarium. (Right) Lateral
radiograph of the skull shows
poorly ossified skull vault
with wormian bones
typical of osteogenesis
imperfecla.
2
34
ABSENT CALVARIUM (")
..
CD
:l
••
Dl
Z
CD
~
Hypophosphatasia o
c:
III
excellent brain detail and UI
poor reflection 11Im from the
near field skull vault, due to
..
'<
III
CD
under mineralization in a 3
case of hypophosphatasia.
The far field skull vault does
produce an echo HI
proving that it is present.
Therefore, this is a mimic of
absent calvarium. (RighI)
Frontal radiograph of the
infant after birth confirms the
presence of an intact, albeit
poorly ossified, bony
cranium =
Achondrogenesis Achondrogenesis
(Lefl) Axial ultrasound shows
a thin skull vault due to
achondrogenesis. Note that
the far field echo is more
convincing for an intact skull
vault and the brain appears
normal. With absence of the
calvarium, repealed episodes
of trauma from normal fetal
movement cause Jossof
normal brain architecture.
(RighI) Gross pathology
shows the extreme
malleability of the skull.
Deformity of the head
was due to vaginal birth.
=
Twin Reversed Arterial Perfusion (TRAP) Twin Reversed Arterial Perfusion (TRAP)
(Lefl) Ultrasound shows a
relatively well-formed
"acardiac" twin with a spine
HI ribs, and lower
extremities 11II but no head.
Note extensive soft tissue
edema _ typical of the
TRAP sequence. (RighI)
Gross pathology shows the
defects ~ left in the TRAP
twin after radiofrequency
ablation of the cord. Note
the complete absence of a
cranium =. The pump twin
developed normally
following intervention and
was delivered at term.
2
35
E ABNORMAL CALVARIUM
SIII
>-
U)
DIFFERENTIAL DIAGNOSIS • Transducer pressure cannot deform a
III
~ normally ossified cranium
o Common
~ • Is there a bony defect?
CIl
z • Abnormal Shape o Essential to look at skull vault from several
o
-
'!
c
CIl
o Poor Scan Technique
o Dolichocephaly
o Brachycephaly
scan planes
o Refraction of beam may create an apparent
defect where none exists
o "Lemon-Shaped" • Cystic hygroma may be mistaken for an
o "Strawberry-Shaped" occipital encephalocele
o Round o Must know normal anatomy: Do not
o Spaulding Sign mistake metopic suture for frontal
o Craniosynostosis encephalocele
• Calvarial Defect
o Exencephaly, Anencephaly
o Encephalocele
• Poor Scan Technique
o Make sure thalami and cavum septi
o Amniotic Band Syndrome
• Abnormal Size pellucidi are visible
o Macrocephaly • Dolichocephaly
o Microcephaly
o Boat shaped: Long back-to-front, narrow
side-to-side
Less Common • Seen with breech presentation,
• Decreased Ossification oligohydramnios, myelomeningocele
o Osteogenesis Imperfecta • Brachycephaly
o Achondrogenesis o Short back-to-front, wide side-to-side
o Hypophosphatasia o Described in trisomy 21
• Scalp Masses • "Lemon-Shaped"
o Bifrontal concavity seen with Chiari II
ESSENTIAL INFORMATION malformation
• Resolves in third trimester in all cases
Key Differential Diagnosis Issues o Occurs in various other conditions and 10/0
• Assess calvarial size, shape, and of normal fetuses
mineralization in all cases • "Strawberry-Shaped"
o Size o Triangular configuration described in
• Is size concordant with gestational age trisomy 18
and other biometric parameters? o Most fetuses with trisomy 18 have
o Shape multiple other anomalies
• Can you see standard scan plane • Round
anatomy? o May be technical if measurement obtained
• If not, is it because of fetal position or in wrong scan plane
maternal habitus? o If normal anatomic markers are not
• Use transvaginal sonography for better identified and head shape appears round
resolution from multiple acoustic windows,
• 3D ultrasound allows volume acquisition underlying brain is usually abnormal
• Data manipulation allows reproduction • Look carefully for signs of
of true axial plane aprosencephaly /holoprosencephaly
o Mineralization spectrum
• Skull is formed after 10 weeks; use EV • Spaulding Sign
sonography from 10-14 weeks for better o Bones of skull vault overlap as brain
resolution if questions collapses following demise
• If brain seen "too well" consider • Craniosynostosis
conditions with poor mineralization o Abnormal head shape secondary to
premature closure of sutures
2
36
ABNORMAL CALVARIUM n
..!.
ell
~
o Look for features of associated conditions o Seen with infection, ischemia, syndromes,
z
(e.g., Crouzon, Pfeiffer, Apert, skeletal malformations lD
~
dysplasia) Helpful Clues for less Common Diagnoses o
C
• Exencephaly, Anencephaly • Osteogenesis Imperfecta
l/l
Ul
o Exencephaly: Lack of cranial vault but
brain tissue present
o Associated with fractures in long bones,
beaded ribs
..
'<
l/l
lD
o Anencephaly: Cranial vault absent, no 3
• Achondrogenesis
brain tissue, skull base contains gelatinous o Hallmark is lack of vertebral ossification
angiomatous stroma • Hypophosphatasia
• Encephalocele o Associated with micromelia and thin,
o Occipital: Herniation of intracranial
bowed bones in perinatal lethal form
structures through an occipital defect • Scalp Masses
• Look for other anomalies/signs of o Calvarium normal
aneuploidy o Mass (e.g., lymphangioma, hemangioma)
o Frontal: Herniation of intracranial arises from scalp
structures through an anterior skull defect
• Look for associated hypertelorism, Other Essential Information
callosal dysgenesis, midline lipoma • Technique very important in head
• Amniotic Band Syndrome measurement and evaluation of calvarial
o Look for linear echoes from bands in contour
amniotic fluid • Biparietal diameter (BPD)
o Look for associated extremity amputation o Measure at level of thalami and cavum
or constriction defects septi pellucidi
o "Anencephaly" with asymmetric orbits or o Cerebellar hemispheres should not be
facial cleft '* bands highly likely visible
• Macrocephaly o Midline echoes in center of oval-shaped
o Enlarged head: Biparietal diameter (± head cross-section
circumference) > 2 SD above mean o Measure outer edge proximal skull to inner
o Look for underlying abnormalities (e.g., edge distal skull
hydrocephalus, tumor, megalencephaly) • Head circumference: Measure at outer edge
• Microcephaly of skull in same plane as BPD
o Small head: Biparietal diameter (± head
circumference) > 2 SD below mean
Poor Scan Technique Poor Scan Technique
because the orbits =

Axial ultrasound shows an odd calvarial contour
are included in the scan plane, correct scan plane with the cavum =.
Axial oblique ultrasound for comparison shows the
thalami _ and
2
which is incorrect The thalami and cavum are not well centra' midline echo IIIll all well seen.
seen. 37
-
E
Gl
Ul
>-
U)
Ul
ABNORMAL CALVARIUM
:l
o
~ Brachycephaly
Gl
Z (Left) Axial ultrasound shows
o
-
C
Gl
a dolichocephalic head
shape in an extremely obese
patient. Note the elongated
shape; the BPD, therefore,
measures less than expected.
The head circumference
measurement ;5 more
accurate for dating jf the
head has a dolichocephalic
shape. (Right) Sagillal
ultrasound shows
brachycephaly (i.e.,
shortening in the AP plane
IIiI) in a fetus with trisomy
21.
"lemon-Shaped" "lemon-Shaped"
(Left) 3D ultrasound, shown
as a series of axial "slices"
akin 10 CT or MR, illustrates
the "lemon" head Ea and
the typical associated
"banana II cerebellum 111
both of which are signs of
Chiari "malformation. The
cisterna magna I!!iI1 ;s
obliterated. (Right) Axial
ultrasound shows bifrontal
concavity = in this normal
fetus. When seen, this sign
should prompt careful
evaluation; however, it is not
pathognomic for the Chiari
malformation.

the more triangular
"strawberry" shape with
short AP 1:1I diameter and
1055 of the expected oval
shape. Multiple anomalies
prompted amniocentesis
which revealed trisomy 1B.
(Right) Axial T2WI MR
shows an extra-axial cyst ~
displacing brain tissue. The
frontal lobes are fused across
the midline ~ This fetus
had semi/obar
holoprosencephaly with an
arachnoid cyst. The head
shape was round in all scan
planes.
2
38
n
-
ABNORMAL CALVARIUM CD
:J
..•
!!!.
z
CD
~
Craniosynostosis o
r:::
(Left) Axial ultrasound shows III
overlap =
discontinuity of the vault and
of the skull bones
in a case of intrauterine fetal
Ul
-
'<
III
CD
demise. (Right) Axial 3
ultrasound shows an
abnormal calvarial shape
with a narrow frontal area
III and wider parietal area
61 in a fetus ultimately
diagnosed with Pfeiffer
syndrome.
Encephalocele
shows the typical
"frog-eyed" appearance"
in anencephaly due to
absence of the skull vault
above the orbital ridge.
(Right) Sagittal T2WI MR
shows a calvarial defect
and large occipital
=
encephalocele IJ:l. Note the
small head size HI This is
caused by the large amount
of brain parenchyma in the
encephalocele sac.
Encephalocele Amniotic Band Syndrome

shows a sort tissue mass ••
between the orbits
(calipers), a typical location
for a frontal encephalocele.
There was associated
hypertelorism. (Right) Lateral
radiograph as part of an
autopsy shows the facial
bones Ill!:I and occiput
with a mass of amorphous
=
exteriorized brain Ea to
which bands were adherent.
2
39
-E
GI
III
>0-
I/)
III
ABNORMAL CALVARIUM
::::I
o
~
GI
Z (Left) Sagittal T2WI MR
-
~
C
GI
U
shows head enlargement
secondary to agenesis of the
corpus callosum and a large
interhemispheric cyst. Note
how disproportionately large
the cranium appears. The
fetus also had hemifacial
microsomia and left
anophthalmia ICB (Right)
Axial ultrasound shows an
enlarged biparietal diameter
(calipers) of 11.5 em in a
fetus with aqueductal
stenosis. Cesarean delivery
was required.
Microcephaly Microcephaly
(Leh) Table shows a severely
diminished head size in a
fetus with an early scan that LMP = MA = 36w1d
confirmed menstrual dating.
Note that the head
measurements lag behind
MA = 30wOd:!:17d
the femur length and
abdominal circumference. MA :!:SD
(Right) Axial ultrasound in
the same case shows loss of BPD 26w2d:!:15d
normal grey white matter
HC 27wOd:!:14d
punctate calcifications =
differentiation and multiple
The infant died within hours AC 33wOd:!:21d

of delivery, and the family
declined autopsy. Infection FL 34w3d:!:21d
was considered the most
likely cause.

deformation of the skull
by transducer pressure. The
=
abnormal ossification
accounts for the
compressibility. (Right)
Radiograph of a stillborn
shows multiple rib fractures
as seen in osteogenesis
imperfecta.
2
40
ABNORMAL CALVARIUM n
..
CD
:l
III
Z
CD
:2
Achondrogenesis Achondrogenesis o
C
(Left) Axial oblique III
ultrasound shows that the
..
C/l
brain detail is remarkably '<
III
vault =
well seen and that the skull
can be compressed
by transducer pressure.
CD
3
(Right) Coronal ultrasound in
chest =
the same case shows that the
is small in relation
to the abdomen 1:1. There
was poor vertebral body
ossification. Autopsy
confirmed achondrogenesis
type la.
Hypophosphalasia
(Left) Radiograph shows
marked reduction in
mineralization in this
neonate with
hypophosphatasia. (Right)
Ultrasound shows a shari
curved femur in a fetus with
hypophosphatasia. A poorly
ossified skull should prompt
careful evaluation of the long
bones.
Scalp Masses Scalp Masses

scalp mass =
ultrasound shows a solid
with a few
small cystic spaces 1:1. There
was no calvarial defect or
underlying brain
abnormality. The mass was
resected after delivery and
shown to be a hemangioma.
shows another scalp
hemangioma in a newborn.
There are large vessels seen
as flow voids =:1 feeding this
scalp mass. The brain
anatomy is normal.
2
41
-
E
Gl
III
>-
!/)
MICROCEPHALY
III
:J
o Common • Idiopathic
~
Gl o Small head size with normal interval
Z • Idiopathic
-
~
c:
Gl
o
• Symmetric lUGR
• Exencephaly, Anencephaly
less Common
growth
o Structurally normal fetus
o Structurally normal brain
• Symmetric IUGR
• Encephalocele o Size less than expected for dates
• Atelencephaly, Aprosencephaly o All biometric parameters affected
• Destructive Processes o Often early onset
Rare but Important o More likely due to intrinsic fetal
• Syndromes abnormality than placental insufficiency
o Cornelia de Lange Syndrome o Look for signs of aneuploidy/syndromes
o Neu Laxova Syndrome • Exencephaly, Anencephaly
• Teratogens o Cranial vault absent
o Fetal Alcohol Syndrome o Variable amounts of brain tissue present
o Hydantoin Syndrome o Short crown rump length in first trimester
o Valproic Acid o In exencephaly the externalized brain may
confer spiky or lobulated contour to head
o "Frog eye" appearance of large, shallow
ESSENTIAL INFORMATION orbits and absent vault above orbital ridge
Key Differential Diagnosis Issues o Look for amniotic bands as cause
• Ensure that measurements are obtained • Linear echoes in amniotic fluid
correctly • Constriction/amputation defects in
• Repeat measurement for confirmation extremities
• Look at parents and consider measuring • "Slash" defects elsewhere (e.g.,
parental head circumference abdominoschisis, facial cleft)
• Is the whole fetus small or just the head? Helpful Clues for less Common Diagnoses
o If all measurements are small consider • Encephalocele
incorrect dates versus early onset growth o If large amount of brain parenchyma in
restriction encephalocele, skull vault is small
o If head measurements smaller than other • Microcephaly in 25% of occipital
parameters, true microcephaly more likely encephaloceles
• Is there a cranial vault? o Diverse appearance of herniated tissue
• Is there a defect in the vault? • Gyral pattern may be identified
• Is the face normal? o Look for osseous defect
o Atelencephaly/aprosencephaly strongly o Look for associated anomalies for
associated with abnormal facies syndromic diagnosis
• Are there calcifications? • Meckel Gruber syndrome associated with
o Good predictor of infection but may be abnormal kidneys/polydactyly
subtle: Small, non-shadowing • Atelencephaly, Aprosencephaly
o Use transvaginal scans for improved o Developmental arrest of formation of
resolution if fetus in cephalic presentation telencephalon &/or prosencephalon
• Is there evidence of bleeding? o No normal cerebral structures
o Look for echogenic clot in ventricles, o Cerebellum often hypoplastic
nodular ependymal thickening, o Facial anomalies, often severe
porencephaly • Absent eyes/nasal structures, midline
• Is the maternal serum alpha fetoprotein oculofacial defects including cyclopia
elevated? o Radial ray anomalies including absent
o Encephalocele, anencephaly, exencephaly thumbs
most likely
2
42
MICROCEPHALY (")
o Oligodactyly, camptodactyly, clinodactyly,

clubfoot
o Short palpebral fissures, smooth philtrum,
thin upper lip
-
CD
:l
..•
!!!.
z
CD
• Destructive Processes • Hydantoin Syndrome <o

C
o Look for calcifications in TORCH o IUGR III
infections o Cardiac defects CIl
o Infarction/hemorrhage/ischemic
phenomena in arteriovenous shunts
"steal" • Valproic Acid
o IUGR
-
'<
III
CD
3
• Use Doppler to evaluate all "cystic" o Neural tube defects
structures for flow o Radial ray malformation
o MR helpful to show blood products
o MR helpful to demonstrate
• Prognosis for true microcephaly is poor
encephalomalacia, porencephalic cysts o 67% fetuses with microcephaly have other
Helpful Clues for Rare Diagnoses brain anomalies
• Cornelia de Lange Syndrome o Non-CNS anomalies also common
o Microcephaly o Infant HC 2-3 SD below mean: 33%
o Micrognathia with protruding upper lip moderate to severe intellectual impairment
o Upper limb reduction defects o Infant HC > 3 SD below mean: 62%
o Intrauterine growth restriction (IUGR) moderate to severe intellectual impairment
o Diaphragmatic hernia • Exencephaly, anencephaly, aprosencephaly,
o Cardiac defects: Pulmonary stenosis, atelencephaly are lethal
ventricular septal defect o Folate supplementation decreases
• Neu Laxova Syndrome anencephaly risk in future pregnancies
o Microcephaly o Amniotic band syndrome is sporadic,
o Receding forehead unlikely to recur
o Proptosis • Prognosis in encephalocele varies with
o IUGR amount of herniated brain and associated
o Central nervous system malformations abnormalities
o Limb contractures o Operative approach is resection of
o Abnormal genitalia extruded brain and closure of defect
• Fetal Alcohol Syndrome
o IUGR
o Cardiac defects
Symmetric IUGR
LMP = MA = 32w3d
MA = 28w5d:!:13d
MA :!:SD
BPD 29w1d:!:15d
HC 29w6d:!:14d
AC 27w1d:!:15d
FL 29w2d:!:15d
LMP% <10%
AFI 5.66cm
Graphic shows appropriate interval growth with BPa

and He measurements at the 5th percentile for GA. The
Table shows growth restriction and oligohydramnios
a fews with gastroschisis and confirmed menstrual
in
2
infant was normal at birth. dating. Poor biophysical scores precipitated delivery,
and the infant had a stormy post-operalive course.
43
E MICROCEPHALY
.!
III
>-
U)
III
::l
o
~ Exencephaly, Anencephaly Encephalocele
GI
Z (Left) Sagittal ullrasound
-
~
C
GI
to)
ultrasound image shows lack
of a bony calvarium HI
superior to the skull base.
The skull base ossifies in
cartilage independent of the
skull vault, which ossifies in
membrane. (Right) Sagittal
shows a huge encephalocele
1m containing most of the
cerebral hemispheres. The
skull vault HI is very small.
The infant did not survive.
Encephalocele Encephalocele
shows a large amount of
brain in the encephalocele
sac =. The head is small,
and the forehead ~ shows
the typical sloped
configuration seen in
microcephaly. (Right) Gross
pathology shows the same
case at autopsy. Note the
small head ICB sloped
forehead EB and large
encephalocele ~
Atelencephaly, Aprosencephaly Destructive Processes

bilobed cerebellum =:I
but
no identifiable structures
above the tentorium.
Autopsy diagnosis was
atelencephaly. There were
no orbits, nasal structures,
mouth, or cerebral
hemispheres. (Right) Sagittal
T1 WI MR in a severely
impaired survivor of
twin-twin transfusion and
co-twin demise shows a
small calvarium =:Idue to
ischemic perivenlricular
leukoma/acia.
2
44
MICROCEPHALY o
-
CD
::J
~
!!!.
z
CD
Destructive Processes Destructive Processes

<o
C
(Left) Table shows biometric III
data in a fetus referred for Ul
LMP = MA = 36w1d evaluation of IUCR. Clearly '<
III
head measurements lag far S'
MA = 30wOdt17d behind the AC and FL,
concerning for
3
microcephaly. (Right)
MA tSD Sagitlal ultrasound of the
same case shows loss of
BPD 26w2d t 15d normal brain architecture
and multiple intracranial
HC 27wOdt 14d calcifications=. Note skin
thickening IllElsecondary 10
AC 33wOdt21 d hydrops. The infant died
within hours of birth, and the
FL 34w3d t21 d family declined autopsy.
Infection is considered the
most likely diagnosis.
Cornelia de Lange Syndrome Cornelia de Lange Syndrome

(Leh) Clinical photograph
shows the typical
appearance with
microcephaly ffi hirsutism
with low set hairline, long
eyelashes, finely penciled
eyebrows, and micrognathia.
Bilateral limb reduction
defectsldl are also present.
ultrasound shows the typical
upper extremity limb
reduction defect =:II seen in
Cornelia de Lange syndrome.
Neu Lax ova Syndrome Valproic Acid

(Left) Sagillal ultrasound of
the chest and head shows
the typical sloping forehead
III seen in severe
microcephaly. At autopsy
this fetus was found to have
features of Neu Laxova
syndrome. (Right) Axial
ultrasound in a fetus exposed
to valproate shows the
"banana" cerebellum !!II of
the Chiari II malformation.
The head size was small for
gestational age.
Myelomeningocele, radial
club hands, and absent
thumbs were also attributed
to valproate embryopathy.
2
45
E MACROCEPHALY
S
III
>0-
Il)
III DIFFERENTIAL DIAGNOSIS Helpful Clues for Common Diagnoses
:l
o Common • Benign Familial
~ o Measure parental head size
QI
Z • Benign Familial
o Underlying brain normal
-
~
c:
QI
(.)
• Macrosomia
• Aqueductal Stenosis
• Intracranial Cysts
o Interval growth normal (i.e., no
progressive enlargement)
• Macrosomia
Less Common o Estimated fetal weight> 90th percentile
• Holoprosencephaly Spectrum o Abdominal circumference may be larger
• CNS Tumors than other parameters
• Beckwith-Wiedemann Syndrome o Increased subcutaneous fat visible in third
Rare but Important trimester
• Hydranencephaly o Often associated with polyhydramnios
• Chiari II Malformation o Associated with overgrowth syndromes
o Seen in infant(s) of diabetic mother(s)
• Aqueductal Stenosis
ESSENTIAL INFORMATION o Obstructive hydrocephalus
Key Differential Diagnosis Issues • Moderate to severe lateral ventricular
• Ensure that measurements are obtained dilatation (> IS mm)
correctly • 3rd ventricle dilated
o Biparietal diameter is measured at level of • "Dangling" choroid
thalami and cavum septi pellucidi • Cavum septi pellucidi may be absent
• Outer edge of near field skull to inner o Posterior fossa structures look normal
edge of far field • No evidence of Chiari II or
o Head circumference in same axial plane, Dandy-Walker continuum as etiology of
• Bone circumference only, does not hydrocephalus
include soft tissues o X-linked form: Adduction-flexion
• Repeat measurements for confirmation deformity of thumbs in male fetus
• Look at parents and consider measuring • Intracranial Cysts
parental head circumference o Arachnoid
• Does the brain look normal? • Extra-axial
o Megalencephaly associated with abnormal • Simple
gyral pattern and loss of architecture • Typically stable in size but may enlarge
• Are the ventricles enlarged? and cause obstruction of CSF flow
o Where is the level of obstruction? o Glioependymal
o Look for mass or cyst obstructing flow of • Extra-axial
cerebrospinal fluid (CSF) • Midline
• Is the posterior fossa normal? • Extend anterior to posterior
o Look for signs of Chiari malformation, • More likely to be multiloculated
Dandy-Walker continuum, posterior fossa • High protein concentration: May show
cyst/mass increased signal on Tl WI MR
• Is the falx present? Helpful Clues for Less Common Diagnoses
o lf absent, holoprosencephaly spectrum is • Holoprosencephaly Spectrum
most likely diagnosis o Lobar form more likely to be associated
o lf present must differentiate with significant ventriculomegaly and
hydranencephaly from severe macrocephaly
hydrocephalus • Look for midline fused fornices
• Is there a cortical mantle? • Look for gyral continuity across midline
o MR may be necessary to make this • Look for asymmetric falx placement
determination
2
46
MACROCEPHALY o
o Small head size more likely with o Brain findings

• Posterior fossa "banana sign"
-
CD
~
~
z
alobarfsemilobar forms unless very large CD
;!
associated dorsal cyst • Calvarial "lemon sign" o
c:
• CNS Tumors • Obliteration of cisterna magna III
Ul
o Solid intracranial mass with Doppler flow
o Supratentorial but precise point of origin
often hard to determine
• Prognosis varies depending on underlying
condition
-
'<
III
CD
3
o May present with hydrocephalus before o Aqueductal stenosis
tumor visible • May have relatively good outcome after
o Exhibit rapid growth
shunt placement
• Beckwith-Wiedemann Syndrome • X-linked form is associated with
o Fetal overgrowth syndrome
profound mental impairment
o Look for associated findings
o Holoprosencephaly spectrum
• Omphalocele • Alobar holoprosencephaly, atelencephaly
• Macroglossia and aprosencephaly are lethal
• Nephromegaly, hepatosplenomegaly, • Semilobar holoprosencephaly often
hemihyperplasia lethal, profound intellectual impairment
Helpful Clues for Rare Diagnoses • Lobar holoprosencephaly has variable
• Hydranencephaly outcome, usually not lethal
o Head size usually normal but o CNS tumors
macrocephaly may be seen • Dismal prognosis: 97% mortality if
o Fluid-filled supratentorial space diagnosed before 30 weeks
o Falx present o Hydranencephaly
o Normal posterior fossa • Dismal prognosis: 50% liveborn infants
o Medial temporal or inner occipital lobes die in first month
also may be present • 85% mortality by end of first year
• Perfused by posterior circulation o Chiari II
therefore preserved • Folate supplementation dramatically
• Chiari II Malformation decreases recurrence risk
o Although associated with • Prognosis depends on level of NTD ± any
ventriculomegaly, head size often normal additional anomalies
o Look for associated neural tube defect
(NTD)
Benign Familial Macrosomia
Axial ultrasound shows a normal brain in a fet.us with

BPO and I-IC approaching 250 above the mean for
Graphic shows both HC and BPO exceeding the 95th
percentile in a generally large fetus. The infant was
2
gestational age. The infant was normal at birth; the normal al birth and did not exhibit any features of a
mother also had a large head circumference. pathological overgrowth syndrome.
47
-E
GI
III
>.
In
III
MACROCEPHALY
:l
o
~
GI
Z (Leh) Axial T2WI MR shows
-~
c::
GI
(.)
severe hydrocephalus and a
compressed, thin cortical
mantle 112. This excludes
hydranencephaly. (Right)
Sagittal T2WI MR in the
same felus shows a normal
cerebellum and posterior
(ossa EB excluding
Dandy-Walker continuum
and Chiari malformation as a
cause of hydrocephalus. The
fourth ventricle = ;s normal
as the obstruction is higher,
at the aqueduct of Sylvius.
Note marked cranial
enlargement ~
Aqueductal Stenosis Intracranial Cysts

(Left) Coronal oblique
ultrasound shows intact
cerebral cortex =
midline Eill thin rind of
and
severe hydrocephalus. The
thalami 111 are normal as is
the cerebellum EB Doppler
flow was seen, confirming
severe hydrocephalus rather
than hydranencephaly.
=
shows a large arachnoid cyst
exerting mass effect on
the cranial vault 1IIl. This
cyst had enlarged
significantly in the third
trimester and was causing
hydrocephalus.
Holoprosencephaly Spectrum
(Leh) Sagittal T2WI MR
shows an enlarged cranium,
which is primarily fluid-filled.
The profile is abnormal with
a flattened nose EB and a
rudimentary globe laB
Abnormal facies is common,
but not universally seen, in
holoprosencephaly (final
diagnosis aprosencephaly).
(Right) Clinical photograph
shows macrocephaly in an
infant with a/obar
holoprosencephaly. Facial
features are normal as were
chromosomes. Not all
holoprosencephaly is
associated with aneuploidy.
2
48
MACROCEPHALY o
-..
CD
:l
!!.
z
CD
~
CNS Tumors CNS Tumors o
C
(Leh) Sagittal ultrasound III
shows a large complex mass rn
with both cystic =:I and solid '<
III
E!lI components completely if
replacing most of the normal 3
intracranial contents. The
head size was dramatically
enlarged. (Right) Gross
pathology in the same case
shows massive cranial
enlargement secondary to an
intracranial teratoma which
extended into the oral cavity.
Beckwith-Wiedemann Syndrome Beckwith-Wiedemann Syndrome

(LeFt) Coronal 3D ultrasound
in a fetus with an overgrowth
pattern shows macroglossia
=:I. Hepatosplenomegaly
was also present, both
features of
Beckwith-Wiedemann
syndrome. (Right) Coronal
a different case shows renal
enlargement. At 30 weeks,
the right kidney measured
4.B cm in length and the left
measured 6.9 cm (calipers).
Beckwith-Wiedemann
syndrome was diagnosed
after clinical evaluation of
the newborn.
Chiari II Malformation
(LeFt) Sagittal T2WI MR
shows complete lack of
cerebral tissue in a fetus with
macrocephaly. Biparietal
diameter and head
circumference were> 99th
percentile. The posterior
fossa was normal. (Right)
Ax~Jull~soundshow5
dangling choroid" large
ventricles III and enlarged
head size in a fetus with a
myelomeningocele. Head
size was such that Cesarean
delivery was required. It is
more usual for the head size
to remain normal in Chiar;
malformation.
2
49
INTRACRANIAL CALCIFICATIONS
DIFFERENTIAL DIAGNOSIS • Toxoplasmosis

o Cats are definitive hosts: Oocyst shed in
Common feces
• Maternal Infection o Human infection from contaminated soil,
o Cytomegalovirus water, undercooked meats
o Toxoplasmosis o Non-shadowing intracranial and
o Varicella intrahepatic calcifications
Rare but Important o Intracranial calcifications may be
• Teratoma periventricular or random in distribution
o Other findings include ventriculomegaly,
IUGR and echogenic bowel
ESSENTIAL INFORMATION • Varicella
Key Differential Diagnosis Issues o Transplacental infection of fetus following
• Significant overlap in imaging findings of in maternal chickenpox infection

utero infections o Intrahepatic and intracranial calcifications
o Intrahepatic and intracranial calcifications • May also see liver, heart, renal
most common findings calcifications
o Intracranial calcifications may be o Polyhydramnios due to neurologic
non-shadowing and subtle impairment of swallowing
• Requires maternal/fetal serologies to make o Limb hypoplasia and contractures
definitive diagnosis o Paradoxical diaphragmatic motion on real
time sonography due to unilateral
Helpful Clues for Common Diagnoses paralysis
• Cytomegalovirus o Cutaneous lesions in derma to mal
o Most common congenital infection
distribution seen in neonate
o Main reservoir is children under < 2 years
o Brain most commonly affected area Helpful Clues for Rare Diagnoses
• Calcifications (predominately • Teratoma
periventricular), ventriculomegaly, o Most common brain tumor in fetus
microcephaly o Obvious, large, destructive mass with
o Other findings include intrauterine growth cystic and solid components
restriction (IUGR), hepatosplenomegaly, o Calcification most specific feature but not
cardiomyopathy, echo genic bowel and always present
hydrops
2 periventricular calcifications=-
Coronal ultrasound focused on the frontal horns shows
Only minimal
Axial NEeT in an infant shows extensive periventricular
~ and basal ganglia ~ ca/cificalion. The patienl had
shadowing is seen, which is typical. microcephaly and ventriculomegaly, all features of
congenilal CMV infeclion.
50
INTRACRANIAL CALCIFICATIONS o
..
CD
::::I
••
!!.
z
CD
<!
o
Toxoplasmosis Toxoplasmosis c:
(Leh) Axial ultrasound shows III
peri ventricular and (I)
inlraparenchymal
calcifications 1IlI. These
.•
'<
III
CD
findings are subtle and could 3
be easily missed. Findings
confirmed postnatally.
shows echogenic bowel III
Both intracranial
calcifications and echogenic
bowel are non·speciFic and
can be seen in many
congenital infections. Patient
history is key. and
materna//fetal serologies are
necessary to make a
definitive diagnosis.
Varicella Varicella
(Left) Ultrasound of the arm
shows a termina/transverse
defect Bl A proximal radius
IIll!l and ulna IIlI are present
but no wrist or hand is
visualized. (Right) Clinical
photograph after delivery
shows very rudimentary
Fingers in this case of
congenital var;cella inFection.
Other neonatal findings of
felal varicella syndrome
include cutaneous lesions in
a dermatomal distribution,
chorioretinitis and varying
degrees of neurologic
dysfunction.
Teratoma Teratoma
(Leh) Coronal ultrasound of
a 17 week fetus shows
macrocephaly (compare to
the normal chest). There is a
large, solid intraparenchymal
mass HI with areas of
calcification and shadowing
1IlI. Calcifications are the
most specific finding of a
teratoma but are not always
present. (Right) Axial
posterior fossa ultrasound
shows a predominately
cystic teratoma with several
focal calcifications 1IlI. The
mass is bulging the calvarium
Ell and distorting the
cerebellum 1Ill!l.
2
51
E
Gl
INTRACRANIAL MASS
••
III
>-
U)
III DIFFERENTIAL DIAGNOSIS • Important to recognize lipomas and choroid
::I plexus papillomas as prognosis is
o Common
~ substantially better
Gl
Z • Intracranial Hemorrhage
..
~
C
Rare but Important
• CNS Tumors
• Intracranial Hemorrhage
Gl o Bleeds may be intra parenchymal,
U o Teratoma
subependymal, intraventricular, or
o Astrocytoma subdural
o Craniopharyngioma
• Always use Doppler to confirm no flow
o Choroid Plexus Papilloma in "mass"
o Lipoma • Look for vascular malformation as
o Primitive Neuroectodermal Tumor potential cause of bleed
o Typically present as a non-perfused,
ESSENTIAL INFORMATION echo genic, intracranial "mass"
o Most are supratentorial
Key Differential Diagnosis Issues o Posterior fossa uncommon
• Doppler critically important in evaluating o Intraventricular hemorrhages may appear
any intracranial mass as an irregular, bulky choroid plexus
o Intracranial hemorrhage (ICH) will show • Also look for echogenic, irregular
no flow ependyma as residual sign of earlier
o Tumors will have vascular flow bleed
• Tumors may have areas of hemorrhage; o Hemorrhage usually extensive when
important to sample entire mass diagnosed in utero
• Follow-up studies helpful • Normal intracranial landmarks often
o ICH will evolve over time with developing obscured
areas of encephalomalacia and o Initially clot is hyperechoic
porencephaly o Becomes hypoechoic with time
o Many tumors will show rapid growth rates • Look for evolving areas of
• MR very helpful in characterizing encephalomalacia/porencephaly
intracranial masses • Hydrocephalus commonly develops
o Sensitive for blood products o MR excellent for evaluating for blood
o Better anatomic evaluation for extent of products
hemorrhage or mass • T1WI high signal (methemoglobin)
• Considerable overlap in appearance of many • T2WI low signal
tumor types (teratoma, astrocytoma,
craniopharyngioma, primitive Helpful Clues for Less Common Diagnoses
neuroectodermal tumor) • Teratoma
o Most common tumor (approximately 50%
o Differentiation often not possible or even
necessary of all fetal CNS tumors)
• Universally dismal prognosis o Complex masses with cystic and solid
o Most are supratentorial

components
o Typically midline location
o Precise point of origin can often not be
o Calcifications most specific finding but not
determined
o May extend through skull base into oral
always present
cavity o May fill entire cranial vault and extend
o May cause gross distortion of cerebral

through skull base into mouth
architecture • Astrocytoma
o Solid tumors
o Hydrocephalus common
o Arise in cerebral hemispheres
o Polyhydramnios secondary to decreased
o Can be seen in the setting of tuberous
swallowing from hypothalamic
dysfunction sclerosis
2 • Most common at foramen of Monro
52
o
• Craniopharyngioma
INTRACRANIAL MASS
o Midline lipoma or cyst

-
CD
:l
!.
z
CD
o Arise from Rathke pouch, an ectodermal Alternative Differential Approaches
diverticulum from roof of mouth <o
• Intraventricular masses c
o Suprasellar midline mass o Choroid plexus cyst
VI
en
o Frequently calcify
o Indistinguishable from teratoma
• Choroid Plexus Papilloma
• Very commonly seen in normals but
does have an association with trisomy 18
• Large ones potentially confused with
-
'<
II>
CD
3
o May occur anywhere in ventricular system
choroid plexus papilloma
• Lateral ventricle most common • Cystic, not solid
o Well-defined, lobular, hyperechoic mass • Resolve on follow-up examination
o Hydrocephalus from over production of • No hydrocephalus
cerebral spinal fluid (CSF) o Choroid plexus papilloma
• Often rapid onset • Hydrocephalus usually present
o Mass may also obstruct ventricle causing
o Lipoma
asymmetric enlargement • No hydrocephalus
• Lipoma o Intracranial hemorrhage
o Well-defined, echogenic mass
• Evolves over time
o Midline or lateral ventricles
• Develops areas of
o Up to 50% of midline lipomas associated
poren cep ha Iy/ encephaloma lacia
with agenesis of the corpus callosum • Hydrocephalus worsens as
o May be multiple
encephalomalacia progresses
• Primitive Neuroectodermal Tumor • Intracranial mass with calcifications
o Highly malignant small-cell tumor
o Teratoma
o Derive from neural crest
• More common
o Extremely rapid growth • Located anywhere in brain
o Indistinguishable from other intracranial o Craniopharyngioma
tumors • Suprasellar but often so large cannot tell
Other Essential Information point of origin
• Findings in agenesis of the corpus callosum o In utero infection causes intracranial
o Absent cavum septi pellucidi calcifications but not masses
o Elevation of 3rd ventricle creating "trident"
shape in coronal plane
o Colpocephaly (teardrop-shaped ventricles)
Intracranial Hemorrhage Intracranial Hemorrhage
=.
Coronal ultrasound shows a large, echogenic
intraparenchymal bleed
normal landmarks.
which is distorUng the the middle cerebral artery =
Coronal power Doppler ultrasound shows flow within
but not within the
"mass". Always evaluate with color Doppler to rule out
2
an intracranialwmor.
53
-
E
GI
III
>-
In
III
INTRACRANIAL MASS
::l
o
~ Intracranial Hemorrhage Intracranial Hemorrhage
GI
Z (Leh) Axial oblique
-
'!
C
GI
(.)
ultrasound shows
intraventricular hemorrhage
E!lI associated with co-twin
demise in a monochorionic
twin pregnancy. Note the
=-
presence of hydrocephalus
shows mixed echogenicity
intraventricular clot III The
ependyma is markedly
echogenic E!lI.
Teratoma Teratoma
(Left) Axial ulrrasound of the
head shows a massive
teratoma with complete
replacement of normal
intracranial conten15. (Right)
Sagittal ultrasound in the
same case shows the mass
has grown into the oral
cavity. It has both solid E!lI
and cystic lIilI components.
The cystic component is
preventing the mouth from
closing. Note the protrusion
of the lower lip and
mandible 1Ill.
Teratoma Teratoma
postmortem scan shows a
large extra·axial mass =
which has grown through
the skull and into the
oropharynx It is splaying
the mandible E!lI and
displacing the tongue 1Ill.
(Right) Cross photograph in
the same case shows the
distortion of the right side of
the face by the tumor, which
can be seen within the oral
cavity E!lI. displacing the
tonguellill.
2
54
INTRACRANIAL MASS o
-
CD
~
i.
z
CD
<o
c
VI
a large, echogenic, CIl
well-defined, midline mass
IlII within the fetal brain.
This appearance is
non-specific and could easily
-
'<
VI
CD
3
have been an
intraparenchymal bleed.
(Right) Pulsed Doppler
ultrasound shows flow within
the mass, confirming this is a
tumor rather than an area of
hemorrhage.
Choroid Plexus Papilloma Choroid Plexus Papilloma

a well-defined, lobular,
echogenic mass. within
the atrium of the right lateral
ventricle. There is also
marked hydrocephalus.
fRight) Axial CECT after
delivery shows brisk
enhancement of this mass
HI. There is severe
hydrocephalus with
transependymal edema 1lII.
Hydrocephalus is caused by
the overproduction of CSF.
fLeft) Axial ultrasound shows

three distinct echogenic
masses, one in the midline
IlII and one in each lateral
ventricle Ea. (Right) Axial
NECT confirms both an
interhemispheric lipoma III
and two intraventricular
lipomas Ea. Note the
"teardrop-shaped" ventricles
(colpocephaly). This fetus
also had agenesis of the
corpus callosum, a common
associated finding with
midline lipomas.
2
55
E
II
POSTERIOR FOSSA CYST/FLUID COLLECTION
••
III
>-
UJ
III DIFFERENTIAL DIAGNOSIS • Mega Cistema Magna
~ o Measure space between cerebellum and
o Common
~ inner skull
II
Z • Incorrect Scan Plane • Normal linear echogenic dural folds
..
f
C
II
• Mega Cisterna Magna
traverse space
o Mega cisterna magna if> 10 mm
(.) • Dandy-Walker Continuum: Variant o Cerebellum and vermis normally formed
• Arachnoid Cyst o Complete detailed anatomy scan
Less Common • Carefully evaluate brain parenchyma
• Cerebellar Hypoplasia • Can be associated with chromosomal
• Vein of Galen Malformation abnormalities (trisomy 18)
• Arteriovenous Fistula o May not have clinical significance in
isolation
ESSENTIAL INFORMATION o Agenesis or severe hypoplasia of vermis
Key Differential Diagnosis Issues o Communication of 4th ventricle with large
• Review normal anatomy of posterior fossa posterior fossa cyst/cisterna magna
structures o Elevated torcular herophili (confluence of
o Cisterna magna should measure s 10mm sinuses)
o Assess cerebellar size o Do not diagnose in first trimester
• Diameter should measure", gestational • Normal rhombencephalon is cystic at
weeks in mm in second trimester that time
• Normative charts exist for more accurate o 70-90% have additional anatomic
third trimester measurements abnormalities
o Cerebellum should be bilobed and • Chromosomal abnormalities in 50%
symmetric • Other CNS findings include callosal
• Identify if vermis hypoplastic/absent dysgenesis, encephalocele,
o Hypoplasia/absent in Dandy-Walker polymicrogyria, heterotopias,
continuum holoprosencephaly
o Beware of oblique scan plane o May develop hydrocephalus antenatal
• May simulate vermian defect • More common to have postnatal
o Later in gestation check sagittal plane hydrocephalus
• Vermis is midline echogenic posterior • Dandy-Walker Continuum: Variant
fossa structure between cerebellar o Partial agenesis/hypoplasia of inferior
hemispheres vermis
• Doppler is critical • Vermis not always completely formed
o "Cyst" may actually be a vascular until 17 weeks gestation
malformation o Torcular herophili in normal location,
o May not have significant flow if unlike Classic DW
thrombosis present o Avoid over-diagnosis
• May see clot • Beware of oblique scan plane
o MR will show typical flow void from high • If early in gestation, follow until 18
velocity flow weeks to allow for complete
• Thrombosis will have variable signal development of vermis
based on evolution of blood products o May be associated with other CNS and
within clot extra-cranial abnormalities
• Similar to Classic DW in frequency
• Arachnoid Cyst
• Incorrect Scan Plane o Anechoic extra-axial cyst
o An overly coronal image gives false
• Contains cerebral spinal fluid
impression of mega cisterna magna or
even Dandy-Walker malformation
2
56
POSTERIOR FOSSA CYST/FLUID COLLECTION n
..Ql
lD
:l
• Most common over cerebral convexities • In cistern of velum interpositum and Z

in fetus quadrigeminal plate cistern lD
;!
• 1/3 in posterior fossa • Extends posteriorly to occipital region o
C
• If in posterior fossa, normal dural folds • Actually the medial prosencephalic vein III
rn
will be displaced
o Size is variable
of Markowski
o Doppler shows turbulent flow ..
'<
III
lD
• Need to monitor growth • High velocity, low resistance arterial flow 3
• If rapid growth - obstructive o May present with hydrops in third
hydrocephalus trimester, due to high output heart failure
o Can have scalloping of inner skull o Rarely may thrombose
o If supratentorial and midline look for • Look for hypoechoic intraluminal clot
agenesis of corpus callosum • Can also see calcifications in clot
o Mostly sporadic but occasionally seen with • Arteriovenous Fistula
syndromes o Focal area of enlarged vessels
• Consider amniocentesis • May appear as tubular cystic structures
on grayscale
• Color Doppler shows alternating
• Cerebellar Hypoplasia
directions of flow
o Cerebellum present but small for
• Enlarged associated meningeal arteries
gestational age creating enlarged cisterna
and draining veins present
magna
o Look for secondary effects
o Differentiate from atrophy of cerebellar
• Hydrocephalus
hemispheres
• Ischemia manifested by
• Cerebellum small and cerebellar fissures
ventriculomegaly, periventricular
enlarged if atrophy
leukomalacia, porencephaly
• Hypoplasia implies small cerebellum but
• Intracranial hemorrhage
fissures normal in proportion with folia
o Can be isolated or associated with
• Cortical atrophy
• Premature closure of cranial sutures
chromosomal or structural abnormalities
o Hydrops may result due to shunt volume
• Trisomy 18, 13
• Check for cardiomegaly as early sign
• Pontocerebellar hypoplasia (rare)
• AVF may enlarge and shunt can worsen
• X-linked cerebellar hypoplasia (rare)
in utero
• Vein of Galen Malformation
o Elongated midline cystic structure
Axial ultrasound shows the cisterna magna measuring

more than 10 mm (calipers). This was consistently
Sagittal T2WI MR of the same fetus shows an intact
vermis HI and a normal fourth ventricle" Therefore,
2
reproducible. No other anatomic abnormalities were this is not a Dandy-Walker variant but an isolated.mega
found. cisterna magna.
57
E POSTERIOR FOSSA CYST/FLUID COLLECTION
S
III
>.
rn
III
;:,
o
~ Incorrect Scan Plane Dandy-Walker Continuum: Classic
II
Z (Leh) Coronal oblique
-
'!
c:
II
(J
ultrasound shows an
apparent large cisterna
magna III and suggests an
absent inferior vermis HI
(OW variant). Axial images
showed a completely normal
posterior fossa. (Right)
Sagittal T2WI MR shows
marked elevation of the
torcular Herophili III and a
large posterior fossa cyst III.
There is no vermis covering
the fourth ventricle ~ The
fetus had multiple other
anomalies including agenesis
of the corpus callosum and a
large interhemispheric cyst.
Dandy-Walker Continuum: Classic Dandy-Walker Continuum: Classic

(Leh) Coronal ultrasound
the posterior fossa =-

shows a large cystic space in
The
cerebellar hemispheres were
absent. Diagnosis was
confirmed postnatally as
well. (Right) Axial T2WI MR
shows a huge posterior fossa
brainstem =-
cyst III in contact with the
which was
flauened. The vermis was
absent, and the cerebellar
hemispheres were
hypoplastic.
Dandy-Walker Continuum: Variant Dandy-Walker Continuum: Variant

splaying of the inferior
cerebellar hemispheres E!lI
and communication
between the cisterna magna
and the fourth ventricle
secondary to an absent
=-
inferior vermis. (Right)
open communication of the
fourth ventricle with the
cisterna magna III. The
cerebellar lobes are only
mildly hypoplastic III. This
Finding was conFirmed on
axial planes.
2
58
POSTERIOR FOSSA CYST/FLUID COLLECTION o
CD
a
~
z
CD
~
Arachnoid Cyst o
C
arachnoid cyst = =
shows an infratentorial
that
displaces the cerebellum
!f
~
On other images the vermis 3
was shown to be intact.
These features distinguish the
cyst from a Dandy-Walker
malformation. (Right) Axial
ultrasound shows a small
bilobed cerebellum Eill
resulting in an enlarged
cisterna magna •. There is
=
also nuchal fold thickening
This fetus also had
bilateral enlarged echogenic
kidneys. Chromosomes
showed trisomy J 3.
Vein of Galen Malformation

"cyst II II1II in the posterior
(ossa, with an echogenic
nodule Ea. No flow was
seen with Doppler. (Right)
Sagillal T2WI MR in the
same patient as previous
image shows a large,
intermediate signal intenSity
extra-axial mass in the
posterior cranium" There
is a low-signal clot III
corresponding to the
hyperechoic area on
ultrasound. This is a
thrombosed vein of Calen
malformation.
Arteriovenous Fistula
(Left) Axial oblique color
flow =
within a large,
midline, elongated "cyst". It
is important to pur Doppler
on cystic appearing lesions
to rule out a vascular
malformation. (Right)
clot extending between the
cerebral hemispheres ffi
Ventriculomegaly ~ and
intraventricular hemorrhage
IdI are present. Thrombosed
dural AVF was confirmed at
birth.
2
59
ABNORMAL CEREBELLUM
DIFFERENTIAL DIAGNOSIS • Nonspecific finding, can even be seen in

normals
Common o Very small or absent cisterna magna
• Chiari II Malformation • Due to caudal displacement of posterior
• Dandy-Walker Continuum: Classic fossa structures (tonsillar herniation)
• Dandy-Walker Continuum: Variant through foramen magnum
• Arachnoid Cyst o Ventriculomegaly
• Mega Cisterna Magna • Usually mild but can progress during
• Mega Cisterna Magna (Mimic) pregnancy
Less Common o If typical intracranial findings identified,
• Cerebellar Hypoplasia search carefully for the associated open
• Rhombencephalosynapsis neural tube defect (ONTD)
• Joubert Syndrome • Can be subtle at times despite dramatic
intracranial abnormalities
• May be skin covered
ESSENTIAL INFORMATION • Posterior ossification sites of vertebral
Key Differential Diagnosis Issues bodies are splayed
• Assess cerebellar size and shape • Check sagittal view to visualize overlying
o Measure transcerebellar diameter sac (seen in 80%)
• Gestational age - transcerebellar o May have associated scoliosis/kyphosis at
diameter until about 3rd trimester level of ONTD
• Use normative tables for exact o Look for clubfoot, additional anomalies
percentiles • Dandy-Walker Continuum: Classic
• Absent or partially absent cerebellum/vermis o Absent vermis
o Consider Dandy-Walker spectrum if o Large posterior fossa cyst
vermian defect present o 4th ventricle open to posterior fossa cyst
• May also be associated with posterior o Elevated torcular Herophili (confluence of
fossa cyst superior sagittal, straight, & occipital
o If vermis not actually absent but sinuses)
distorted/compressed, consider arachnoid o Look for other associated anomalies (seen
cyst in posterior fossa in 70-90%)
• Cerebellum appears small • Callosal dysgenesis
o Confirm small cerebellum versus relatively ·ONTD
large posterior fossa • Heterotopias
o If cerebellum actually normal, could be • Chromosomal abnormalities
mega cisterna magna or posterior fossa • Cardiac anomalies
arachnoid cyst • Dandy-Walker Continuum: Variant
• Cerebellum is flattened and "banana-shaped" o Milder form of Dandy-Walker
o Consider Chiari II malformation malformation
o Look for associated neural tube defect o Absent or hypoplastic inferior vermis
o 4th ventricle open to cisterna magna
Helpful Clues for Common Diagnoses • "Keyhole" appearance of 4th ventricle on
• Chiari II Malformation axial ultrasound
o "Banana sign" in posterior fossa
o Posterior fossa should be normal size
• Flattened cerebellum o Avoid over diagnosis
• Curved around midbrain • Vermis not always completely formed
o "Lemon sign"
until 17 weeks
• Refers to appearance of calvarium • Overly coronal oblique scan plane can
secondary to flattened frontal bones and simulate vermian defect
dolichocephaly • Arachnoid Cyst
• Typical appearance often resolves by 3rd o One third of cases occur in posterior fossa
trimester
2
60
ABNORMAL CEREBELLUM o
CD
a
o Vermis is intact o Agenesis of vermis i
z
o Cyst does not communicate with 4th o Cerebellum appears small and "ball-like" CD
ventricle • Typical bilobed appearance is absent ~

C
o Cerebellum often appears distorted by • Abnormal 4th ventricle shape ("pointed" III
C/l
mass effect from cyst appearance on postnatal MR) -e
III
• Mega Cisterna Magna o Look for other associated intracranial Ii
o Enlarged cisterna magna measuring> 10 abnormalities 3
mm • Consider fetal MR for optimal
• Make sure this is a true measure visualization of intracranial structures
• Should see cavum septi pellucidi • Joubert Syndrome
o Can give overall impression of relatively o Cerebellar cleft at midline between
small cerebellum hemispheres
o Actual cerebellar diameter normal for • Represents prominent interpeduncular
gestational age fossa
o Usually an incidental finding of no clinical • May be seen in conjunction with
consequence ventriculomegaly, encephalocele,
o May be part of multiple findings seen with polydactyly, micropenis
trisomy 18 • Can be confused with Dandy-Walker
• Mega Cisterna Magna (Mimic) o "Molar tooth" sign on fetal MR
o An overly coronal image gives false • Deepened interpeduncular fossa
impression of mega cisterna magna • Thick, straight superior cerebellar
Helpful Clues for Less Common Diagnoses peduncles
• Cerebellar Hypoplasia • Hypoplastic vermis
o Cerebellar axial diameter less than
• Abnormal midbrain (! anteroposterior
expected for gestational age diameter)
o Can be seen with fetal hyperpnea up to
o Normally formed cerebellar hemispheres
present 140-160 breaths/min
o Autosomal recessive disorder
• Folia appear normal (prominent sulci
seen with atrophy, not hypoplasia) • Clarify family history to assess
o Look for other anatomic abnormalities
• Genetic counseling useful for future
• Associated with chromosomal anomalies pregnancy planning
• Rhombencephalosynapsis
o Congenital fusion of cerebellar lobes
Axial ultrasound shows the typical appearance of a

"banana" cerebellum = wrapped around the
Sagittal ultrasound of the spine in the same fetus shows
a subtle sacral neural tube defect IlIl which could
2
brainstem and a "lemon" skull lEI. These findings easily be missed without the associated intracranial
should prompt a careful search for associated ONTO. findings.
61
ABNORMAL CEREBELLUM

(Lerl) Axial ultrasound of a
fetus seen for screening
ultrasound shows cerebellar
compression HI with a
resultant II banana"
cerebellum. A "lemon I' skull
IlII is also seen. (Right)
Sagittal ultrasound of the
same fetus as previous image
shows an extensive ONTO of
the lumbar spine with
marked kyphosis !lliil at the
level of the defect.
Dandy-Walker Continuum: Classic Dandy-Walker Continuum: Variant

absence of the vermis and
direct communication of the
4th ventricle & a posterior
fossa cyst (calipers). The
cerebellar hemispheres !lliil
are small and splayed. In
addition, the cavum sept!
pellucidi is absent 1lII.
ultrasound shows a bilobed
cerebellum HI with a
vermian defect IlII identified
on routine screening at 22
weeks gestation.
Dandy-Walker Continuum: Variant Arachnoid Cyst

(Left) Axial ultrasound of a
fetus at 33 weeks gestation
shows open communication
of the inferior 4th ventricle
with the cisterna magna l1li
("keyhole' defect). This
defect is relatively small.
Dandy-Walker malformation
forms a true continuum from
severe to mild. (Right)
Sagittal T2WI MR shows a
posterior (ossa arachnoid
cyst HI. The vermis is
intact, torcularposition. is
normal, and there is no
communication with the 4th
ventricle III
2
62
ABNORMAL CEREBELLUM n
CD
::J
~
Z
CD
<1
Mega Cisterna Magna (Mimic) Mega Cisterna Magna (Mimic) o
C
(LehJ Coronal oblique III
ultrasound shows an
apparently enlarged cisterna
magna, measuring J 3 mm
j
(calipers). (Right) Axial 3
ultrasound which includes
the cavum septi pellucidi E£I
in the same fetus as previous
image, shows the cisterna
magna 11:1 is actually 9 mm
and therefore within normal
limits. The vermis is also
noted at midline Ill.
Scanning at too sleep an
angle can give the false
appearance of a mega
cisterna magna.

fetus with trisomy 18 shows
a small cerebellum.
measuring at the 5th
percentile for 30 weeks. The
cisterna magna III is
enlarged, measuring 1.3 cm.
The fetus died in utero near
term. (Right) Coronal
oblique ultrasound shows a
small, globular cerebellum
1m. There is no normal
hemispheric differentiation
or vermian structures,
findings typical of
rhombencephalosynapsis.
Lobar holoprosencephaly 11:1
was also present.
Joubert Syndrome
a small cerebellum with lack
of normal hemispheric
differentiation 11:1. The
cerebellum looks like a
homogeneous soft tissue
mass ("ball-like") without an
identifiable vermis. (Right)
Axial oblique T2WI MR
shows the "molar tooth"
described in Joubert
syndrome, created by the
elongated superior cerebellar
peduncles. on either side
of a cleft between the
cerebellar hemispheres ffi
2
63
SPINAL MASS
DIFFERENTIAL DIAGNOSIS • Obliteration of cisterna magna

• "Banana" shaped cerebellum
Common • Ventriculomegaly/hydrocephalus
• Myelomeningocele • "Lemon-shaped" head (bifrontal
• Myeloschisis concavity which resolves in third
• Sacrococcygeal Teratoma trimester)
less Common o Open neural tube defect
• Lipoma/Lipomyelomeningocele • Posterior elements splayed or divergent:

• Lymphangioma Lack of normal "teepee" shape on axial
• Myelocystocele view
• Parallel posterior elements abnormal if
Rare but Important reproducible from different scan planes
• lniencephaly • Myeloschisis
• Chiari III Malformation o Open defect with no covering membrane
o Neural placode exposed to amniotic fluid
ESSENTIAL INFORMATION o Everted edges may appear as spinal mass
• Sacrococcygeal Teratoma
o Cystic, solid, or mixed echogenicity mass
arising from sacrum
• Purely cystic in 15%
• May contain calcifications
o Posterior elements intact
o Sacrum present
o Solid lesions may be hypervascular putting
fetus at risk for developing hydrops
o Grading system developed by American
Academy of Pediatric Surgery Section
• Type 1: Completely external or minimal
presacral component
• Type 2: External and internal component
extending into presacral space
• Type 3: External and internal component
extending into abdomen
• Type 4: Completely internal, no external
component
o Brain is structurally normal
• Lipoma/Lipomyelomeningocele
o Skin covered defect
o Not associated with elevated msAFP
o Subcutaneous mass of variable
echogenicity
o Lipoma: No spinal canal enlargement
o Lipomyelomeningocele: Tethered
low-lying spinal cord inserts into lipoma
through dysraphic defect
• Lymphangioma
o Multicystic mass
o May be anywhere along torso
o Skin-covered
2
64
SPINAL MASS o
CD
a
o May mimic myelomeningocele or cystic o Intracranial findings of Chiari II ~
z
sacrococcygeal teratoma o High cervical ± low occipital osseous defect CD
• Myelomeningocele associated with open o Herniation of posterior fossa contents (i.e., ~

c
neural tube defect; sac extends out of cerebellum, brain stem, fourth ventricle ± III
spine defect upper cervical spinal cord) through en

-e
• Sacrococcygeal teratoma arises from osseous defect ~
sacrum 3
• Myelocystocele • Essential to scan fetal spine in three planes
o Skin-covered lumbosacral dysraphism
o Axial for neural tube closure
o Hydromyelic cord traverses meningocele,
o Sagittal for global alignment
expands into large contiguous terminal o Coronal for vertebral body
cyst evaluation/assessment of posterior
o Abnormal cystic dilatation of thecal sac
elements
(i.e., intradural) • Myelomeningocele may be extremely subtle
• All other cystic spinal masses arise in soft when small in second trimester
tissues o Maternal habitus ± fetal position may
o May be associated 'with other
compromise assessment of distal spine
abnormalities o Look at brain for Chiari malformation
• Caudal regression or OEIS syndrome • Lateral recumbent fetus pitfall
(omphalocele, exstrophy of the bladder, o Posterior elements may appear parallel in
imperforate anus, and spinal anomalies) normal fetus when scanned in lateral
Helpful Clues for Rare Diagnoses recumbent position
• Iniencephaly • Scan from different acoustic windows
o Lethal open neural tube defect • Orthogonal views at suspicious level
o High cervical location, spinal defect may • Correlate with msAFP
extend to thoracic/lumbar area • Myelomeningocele may be associated with
(rachischisis) other malformations
o Cervical vertebrae are missing or fused o If multiple anomalies, risk of aneuploidy is
o Associated occipital encephalocele increased
o Associated with fixed hyperextension of • Spinal lipoma
neck - "stargazer" fetus o May be associated with tethered cord
o Mandibular skin contiguous with chest o Important to counsel parents about
• Chiari III Malformation potential for neurological impairment
Myelomeningocele
splayed posterior elements

sac 1m.
-=
3D ultrasound displayed as serial axial slices shows the
and myelomeningocele the level of the sacral spine =
Sagittal ultrasound shows a myelomeningocele I:lIl at
= 15). This was
associateel with the typical brain findings of Chiari /I
2
malformation.
65
SPINAL MASS
Myeloschisis
shows a small
myelomeningocele IlEI in the
lumbosacral area. Maternal
habitus precluded adequate
sonographic assessment,
although the intracranial
findings of Chiari /I
malformation were seen.
shows a myeloschisis defect
1lEI. In this lesion, there is no
encasing dural membrane,
and the neural placode is
everted edges =
open to amniotic fluid. The
of the
defect may suggest a spinal
mass.

shows a large, solid mass
that is larger than the fetal
=
torso IlEI. Solid teratomas are
at risk for high output
cardiac failure and hydrops.
(RighI) Clinical photograph
shows the bilobed
appearance of a large, solid
sacrococcygeal teratoma
involving the perineum and
buttocks of the neonate.

shows a mixed cystic and
solid mass. extending into
the pelvis l1l:I. This elevated
the bladder, but there was
no associated urinary tract
obstruction. (Right) Coronal
T2WI MR shows a
sacrococcygeal teratoma
with primarily cystic EllI
external component but an
unexpectedly large solid
intrapelvic extension" The
mass remained stable, and
surgical excision was
successful.
2
66
SPINAL MASS o
lD
:l
[
Z
lD
~
o
c:
(Leh) Sagittal ultrasound III
shows intact skin covering
•• over a hypoechoic mass
!f
III associated with ~
dysraphism in the sacral 3
region. Maternal serum
screening and views of the
brain were normal. Postnatal
imaging showed a
tipomyelomeningocele and
tethered cord. (Right) Axial
ultrasound shows a septated
cystic mass 1:1 arising (rom
the soit tissues 01 the neck
not involving the bony spinal
column. Note normal
converging posterior
elements III.
Myelocystocele
(Left) Sagittal oblique
ultrasound shows an unusual
posterior tubular fluid
collection III. Note
gallbladder ilia. Spinal bony
elements were not seen.
coniirms posterior
multicystic mass lEI
surrounding the spinal cord
The stomach HI and the
right adrenal ilia are seen at
this level. This is a terminal
myelocystocele associated
with severe caudal
regression. The infant died
within minutes of birth.
Iniencephaly Chiari III Malformation

(Left) Lateral radiograph
shows an acute lumbar
kyphosis III. There is
markedhead extension.
due to shortening of the
cervical spine, which is the
result of missing and fused
vertebrae ED (Right) Sagittal
ultrasound shows cervical
dysraphism and an occipital
bony defect III with an
associated
encephalomeningocele ilia.
This defect, combined with
the typical intracranial
finding seen in Chiari II,
constitutes a Chiari 11/
malformation.
2
67
ABNORMAL SPINE POSITION
DIFFERENTIAL DIAGNOSIS • Fetus seen to move extremities

• Normal amniotic fluid
Common • Change in position on follow-up scans
• Positional o May be due to fetal crowding
• Spina Bifida • Multiple gestations, late pregnancy
• Body Stalk Anomaly o Associated with oligohydramnios
• VACTERLAssociation • Renal agenesis/other bilateral renal
• Vertebral Anomaly anomalies
LessCommon • Twin-twin transfusion syndrome donor
• Amniotic Band Syndrome o Look for synechiae
• Thanatophoric Dysplasia • Fetal parts oriented around large
• Achondroplasia synechia
• Asphyxiating Thoracic Dysplasia o Large uterine fibroids may distort cavity -
unusual fetal position
Rare but Important o Mullerian duct anomalies may result in
• Conjoined Twins decreased cavity size/unusual fetal lie
• Iniencephaly • Spina Bifida
o Depending on level of neural tube defect
ESSENTIAL INFORMATION (NTD) may see sharp kyphosis
• Thoracic NTD most likely to result in
Key Differential Diagnosis Issues abnormal spine position
• Is fetal position fixed or variable? • Iniencephaly is high cervical NTD
o If variable, less likely to be significant
causing neck hyperextension due to
problem shortening of cervical spine
o If fixed, evaluate global fetal movement
o Look for associated brain findings of Chiari
• Any evidence of arthrogryposis/akinesia II malformation
sequence • Ventriculomegaly, "banana" cerebellum,
• Serial evaluation important as akinesis "lemon-shaped" head
sequences may be progressive o Look for splayed/absent posterior elements
o Look at abdominal wall and cord insertion
o Look for associated
site to exclude body stalk anomaly myelomeningocele/myeloschisis
o Scan through amniotic fluid looking for
• Body Stalk Anomaly
bands o Result of embryologic maldevelopment
• Are bones of spine normal? with interruption of normal embryonic
o Use high frequency transducer for better
folding process
resolution • Open abdominal wall defect
o Assess vertebral body height,
• Peritoneum in continuity with amnion
mineralization, presence of 3 ossification therefore fetus fixed to placenta
centers at all levels • Body stalk/yolk stalk fusion fails: Short or
• Is spine length normal? absent umbilical cord
o Caudal regression sequence may cause
o Normal cord development allows fetus to
spine position to look unusual as loss of move freely within amniotic sac
normal sacral curvature o If no cord, fetus tethered to uterine wall
• Make sure vertebra are present between • Extremities and cranium move
the iliac wings
• Spine growth/elongation -
o Scan through cervical, thoracic, lumbar,
hyperextension about fixed point where
and sacral spine systematically abdominal cavity is open and adherent
Helpful Clues for Common Diagnoses to placenta
• Positional • VACTERL Association
o Most commonly idiopathic due to fetal o Non-random association of seven core
stretching movements anomalies
2
68
ABNORMAL SPINE POSITION o
CD
a
• Vertebral anomalies o Contiguous skin covering between twins ~
z
• Anal atresia o Spines hyperextended due to fixed anterior CD
point of union ~
• Cardiac anomalies o
C
• Tracheoesophageal atresia o Bridging tissue may be pliable - III
CII
• Renal anomalies orientation of twins can vary from scan to '<
III
• Limb defects (radial ray) scan S'
• Vertebral Anomaly • Iniencephaly 3
o Look for hemivertebra/fused vertebrae at o Lethal extensive open neural tube defect
apex of scoliosis/kyphosis • Defect in occiput and inion
o Ask for history of maternal diabetes, • Occipital encephalocele + spinal
alcohol use, drug exposure (e.g., valproate) dysraphism
Helpful Clues for Less Common Diagnoses • Fixed cervical hyperextension -
"stargazer" fetus
• Thanatophoric Dysplasia
o Lethal skeletal dysplasia with severe Other Essential Information
micromelia • Twin gestation
o "Telephone receiver" femur in type 1 o Determine chorionicity
o Kleeblattschadel (cloverleaf) skull type 2 o Conjoined twins are monochorionic
o Distinctive spine appearance o Differential diagnosis for fixed scoliosis in
• Marked platyspondyly with one twin of dichorionic twins is as for
intervertebral disc height> vertebral singleton
body height (normally equal) • Apparently isolated hemivertebra causing
• Lumbar kyphosis abnormal spine position may be "tip of the
• Achondroplasia iceberg"
o Thoracolumbar kyphosis o Perform formal fetal echocardiogram at
o Narrowed interpedicular distance 18-22 weeks
o Progressive rhizomelic limb shortening o Look carefully for other stigmata of
o Macrocephaly with frontal bossing VACTERLassociation
o Trident hands o Assess spinal cord with high resolution
• Asphyxiating Thoracic Dysplasia transducer if possible
o Thoracic lordosis, lumbar kyphosis • Tethered cord
o Short, horizontal ribs with small thorax • Lipoma
Helpful Clues for Rare Diagnoses • Diastematomyelia
• Conjoined Twins
Positional Positional
Sagittal ultrasound shows prominent but transient

thoracic kyphosis. This was a transient finding and is
Sagittal ultrasound shows
compressing the fetal spine =. a 6 cm fibroid =
This was exacerbated
2
seen with normal fetal movement. by transducer pressure. The fetus moved normally.
69
ABNORMAL SPINE POSITION
Spina Bifida Spina Bifida

(Left)
acute angulation =
3D ultrasound shows
of the
thoracic spine in a fetus with
a high thoracic neural tube
defect. Origins of some of
the upper ribs aare seen;
the rest of the torso was
twisted out of plane. (Right)
Axial oblique ultrasound in
image shows the
myelomeningocele sac a
Several ribs =
involving the thoracic spine.
are imaged
due to the degree of twisting
of the torso.
Spina Bifida Body Stalk Anomaly

(Leh) Radiograph in the
infant at birth shows a
hemivertebra ~ and several
"jumbled" vertebral bodies
inferiorly ICB Increased
tissue density in the midline
is due to the mass of the
associated
myelomeningocele sac.
(Right) Ultrasound shows
two points of acute
angulation of the spine
a fetus with the body stalk
=
in
anomaly. Fixed spine

position is a hallmark of
body stalk anomaly.
Body Stalk Anomaly Body Stalk Anomaly

Radiograph shows
(Left)
marked scoliosis IdI
associated with evisceration
of the thoraeo-abdominal
eontents =.
(Right)
Transvaginal ultrasound at
16 weeks gestation shows
the fetus "stuck" to the
placenta =.
The liver E!lI is
exteriorized. Umbilical
vessels. are seen to
traverse the defect but there
is no normal umbifical cord.
Lack of normal cord
development is another key
feature of the body stalk
anomaly.
2
70
CD
a
~
z
CD
~
VACTERl Association VACTERl Association o
C
(Left) Coronal ultrasound III
after emnioiniusion in a fetus en
-e
with severe oligohydramnios III
showed persistent
thoracolumbar scoliosis
with at least one vertebral
= 3
S'
body anomaly Ei!l (Right)

Coronal color Doppler
as previous image confirms
absent renal arteries Ia.
Bilateral radial ray anomaly
and rockerbottom feet were
also present, a constellation
of findings typical of the
VACTERL association.
VACTERl Association VACTERl Association

(Left) Ultrasound shows
persistent scoliosis =
in a
fetus with multiple anomalies
including complex
congenital heart disease.
(Right) Ultrasound in the
shows a short forearm IGE
and an abnormally
positioned hand = with
only 3 digits. Amniocentesis
performed for suspicion of
trisomy 1B showed normal
chromosomes. VACTERL
association provides a
unifying diagnosis for this
group of anomalies.
Vertebral Anomaly Vertebral Anomaly

(Left) Lateral radiograph
shows complete loss of the
lower lumbar vertebral
bodies (12th rib denoted by
ffi, with only rudimentary
vertebrae at L1 and L2 al.
Five sacral segments lID are
present. The infant was born
to a poorly controlled
diabetic who received little
prenatal care. (Right) Sagittal
ultrasound shows "jumbled"
thoracic vertebrae = in a
fetus with diabetic
embryopathy.
2
71
E ABNORMAL SPINE POSITION
i
en
!II
::I
o
e
GI
Vertebral Anomaly Vertebral Anomaly
Z (Left) Sagittal ultrasound
-
~
C
GI
<.J
shows typical appearance of
isolated focal kyphosis of the
lumbar spine = seen with
20 ultrasound. (Right)
Coronal 3D ultrasound
shows fusion of vertebral
bodies Il!lI and scoliosis (left
iliac crest IIV. The cisterna
magna and cerebellum were
normal, essentially ruling out
an open neural tube defect.

shows a persistent thoracic
kyphosis Il!lI that was
associated with a large
abdominal wall defect,
norma/ umbilicel cord, and
linear bands in the amniotic
fluid, consistent with
amniotic band syndrome.
(Right) Coronal 3D
ultrasound shows the fetus
liver
band.
=
apparently "resting" on its
Note the apparent
Thanatophoric Dysplasia Achondroplasia

shows the typical
appearance of the spine in
thanatophoric dysplasia in
==
the third trimester. Note
lumbar kyphosis severe
platyspondyly and
polyhydramnios. Trident
hand and metaphyseal
flaring were also seen.
the spine shows
thoracolumbar kyphosis Il!lI
with narrow interpedicular
distance ~ in a fetus with
heterozygous
achondroplasia.
2
72
CD
a!.
z
CD
~
C
(Left) Sagittal ultrasound III
shows a persistent lumbar CIl
kyphosis =:II. Initial images
-e
showed possible ~
cardiomegaly, which was, in 3
fact, due to small thoracic
circumierence. The ribs were
short and horizontal without
irectures. (Right) Lateral
radiograph of the
thoracolumbar spine in the
same case after birth
confirms short horizontal ribs
II1II with a long narrow
thorax. Note also the
persistent lumbar kyphosis
Ei!I and thoracic lordosis =:II.
Conjoined Twins Conjoined Twins

(Left) Gross pathology shows
thoracoomphalopagus twins
joined at the chest and
abdomen. The left twin has
marked lumbar lordosis ~
as well as cervical spine
hyperextension I&L (Right)
Radiograph in another set of
shows cervical spine
hyperextension II1II in one of
the twins. In conjoined twins
with ventral fusion, the
spines are often arched away
from the site of fusion.
(Left) Sagittal ultrasound at

12 weeks gestation shows
the head =-
marked hyperextension of
The body
appears small compared to
the head, secondary to
absent cervical and upper
thoracic vertebrae. These are
first trimester features of
iniencephaly. Dilated
ventricles = were also
present. (Right) Lateral
radiograph shows the typical
stargazer head position
There are abnormal/missing
=-
vertebrae with extreme
extension of the cervical
spine
2
73
E ABNORMAL VERTEBRAL COLUMN
i
rn
Look for associated myelomeningocele
:J • Interrupted skin echo
~ Common • Fine membranous sac ± contained neural
GI
Z • Spina Bifida elements
o
-
'!
C
GI
• Segmentation and Fusion Anomalies
less Common
• Caudal Regression Sequence
o Look for associated myeloschisis
• Interrupted skin echo with rolled edges,
no sac
• VACTERLAssociation • Segmentation and Fusion Anomalies
• Skeletal Dysplasias o Result from aberrant vertebral column
o Achondrogenesis formation
o Thanatophoric Dysplasia • Block vertebra: Segmentation failure of
two or more vertebral so mites
Rare but Important
• Posterior neural arch anomalies:
• Iniencephaly Dysraphism ± unilateral pedicle
• Chiari III Malformation aplasia/hypoplasia
• Partial or complete failure of formation:
ESSENTIAL INFORMATION Vertebral aplasia, hemivertebra, butterfly
vertebra
• Partial duplication: Supernumerary
• Are all vertebral bodies present? hemivertebra
o Take care to assess all segments
o Often cause kyphosis/scoliosis
systematically o May be isolated but if found look for other
o Caudal regression may be quite subtle
malformations
when mild
• Gastrointestinal (20%),
o Coronal views useful to see tapering sacral
• Congenital cardiac disease (10%)
segments, look for hemivertebrae • Renal anomalies also described
• Are all posterior elements closed? o Evaluate spinal cord carefully for
o Axial views essential to avoid missing
associated tethering or diastematomyelia
spinal dysraphism (split cord)
o Look for intracranial findings of Chiari II
o Check for maternal alcohol
malformation if suspect neural tube defect abuse/medications history (valproate)
• Is spine orientation normal?
o Does orientation change with fetal Helpful Clues for less Common Diagnoses
movement? • Caudal Regression Sequence
o Is odd position/alignment due to o Strong association with poorly controlled
crowding/amniotic cavity distortion? maternal diabetes
• Is fluid volume normal? o Due to missing vertebra rather than
o Polyhydramnios: Skeletal dysplasias, abnormal vertebra
tracheoesophageal fistula, maternal o Spine looks "short"
diabetes (macrosomia) o Tapers abnormally high, not at sacral tip
o Oligohydramnios: Significant renal • Assess cervical, thoracic, lumbar, & sacral
anomalies, maternal diabetes segments systematically in every fetus
(microvascular disease) o Look for vertebral bodies between iliac
wings on axial images
Helpful Clues for Common Diagnoses o "Shield sign" describes the appearance of
• Spina Bifida apposed iliac wings when sacral vertebra
o Associated with elevated maternal serum
are absent
alpha fetoprotein o Lower extremities often held in fixed
o Associated with brain findings of Chiari II
"Buddha" or "cross-legged tailor" position
malformation • VACTERL Association
o Spinal laminae parallel or divergent
• Normal Iy converge to f orm a lit eepee "
2
74
ABNORMAL VERTEBRALCOLUMN o
ID
a!.
o Non-random association of anomalies Helpful Clues for Rare Diagnoses z
involving multiple organ systems except • Iniencephaly
ID
brain o Lethal open neural tube defect ~

C
• Vertebral anomalies o High cervical location with severe
III
• Anal atresia en
-e
shortening of cervical spine
• Cardiac anomalies o Defect may extend to thoracic/lumbar ~
• Tracheoesophageal fistula 3
spine (rachischisis)
• Renal anomalies o Cervical vertebrae missing or fused
• Limb (radial ray) o Associated occipital encephalocele
o Three or more associated malformations
o Fixed neck hyperextension - "stargazer"
required for diagnosis head position
• Achondrogenesis • Chiari III Malformation
o Hallmark is lack of vertebral ossification
o Intracranial findings of Chiari II
• Type la: Completely unossified, o High cervical ± low occipital osseous defect
associated with rib but not long bone o Herniation of posterior fossa contents
fractures • Cerebellum, fourth ventricle ± upper
• Type Ib: Pedicles may be ossified cervical cord through defect
• Type II: Deficient spine mineralization
o Severe micromelia Other Essential Information
o Disproportionately large head • Use 3D ultrasound
• Ossification may be normal (type II) or o Volume acquisition allows manipulation
deficient (type I) of data and may reveal findings not
o Small thorax with protuberant abdomen appreciated on 2D scans
• Thanatophoric Dysplasia o Serial slices comparable to CT/MR allows
o Severe platyspondyly with prominent assessment of level
lumbar kyphosis o Surface rendered reconstructions useful for
o Associated with severe micromelia with global view and to counsel parents
prominent bowing but normal ossification • Think of the VACTERL association when
o Telephone receiver femur in type I vertebral anomalies are seen in a fetus with
o Kleeblattschadel ("cloverleaf") skull other known malformations and normal
deformity in type II chromosomes
o Small, narrow thorax o 28% neonatal mortality
o 48% mortality in first year
Cross pathology shows a large thoracolumbar neural

tube defect The myelomeningocele membrane IIIl was
Segiusl oblique utuesound shows a sacral neural tube
defect IIIl with associated tethering of the cord. The
2
torn during delivery. Note the open spinal column IIIin conus III is visible to the level of the defect; it should
the center of the soft tissue defect. not be lower than L2/3.
75
E ABNORMAL VERTEBRAL COLUMN
~
1;
UI
::I
o
e
Ql
Segmentation and Fusion Anomalies Segmentation and Fusion Anomalies
Z (LehJ Sagitral ultresound
-
~
o
c:
Ql
shows a persistent "kink" III
at the thoracolumbar
junction. This was an
isolated finding in this fetus,
but always look for other
signs of VACTERL
association. (Right) Axial
shows incomplete
ossification of the left lateral
half of the vertebral body IIlil
at the level of the "kink".
This is most consistent with
an isolated hemivertebra.
The parents elected no
further prenatal evaluation.
Caudal Regression Sequence Caudal Regression Sequence

(Leit) Sagittal T2WI MR
shows abrupt early
termination of the spine.
associated with a small pelvis
and multiple other
malformations. The mother
was not diabetic. (Right)
Frontal radiograph in the
shows additional vertebral
anomalies = in the cervical
and thoracic spine, as well as
mediastinal shift III due to
unilateral left pulmonary
agenesis.
VACTERl Association VACTERl Association

(LehJ Ultrasound shows the
use of a high frequency
transducer to improve bone
detail. There was
anhydramnios in this
pregnancy, but multiple
fused vertebrae. are seen
at the thoracolumbar
junction. VACTERL sequence
was confirmed at autopsy.
(Right) Radiograph in a
different, liveborn infant with
multiple anomalies in
keeping with VACTERL
association shows
hemivertebra butterfly
vertebra I<B and double
curve scoliosis.
2
76
ABNORMAL VERTEBRAL COLUMN o
CD
:l
[
Z
CD
Achondrogenesis Thanatophoric Dysplasia <

o
(Left) Sagillal ultrasound
c:
III
shows absent/decreased
ossification in the thoracic
!fIII
•• and lumbar spine =. In lD
association with severe limb 3
shortening, this is typical of
echondrogenesis. (Right)
Sagillal ultrasound shows
prominent lumbar kyphosis
•• and platyspondyly
typical for tbenetopboric
=.
dysplasia.
Thanatophoric Dysplasia Iniencephaly

(Left) Ssgittsl radiograph
performed as part of an
autopsy shows the same
features of prominent lumbar
kyphosis" and
platyspondyly 1:1 in this
lethal skeletal dysplasia.
(Right) Sagillal oblique
transvaginal ultrasound at 12
weeks gestation shows a
short and small appearing
encephalocele =.
IOrsO" and large occipital
confident diagnosis of
allowing
iniencephaly.
Chiari III Malformation Chiari III Malformation

a large occipital
encephalocele 1:1 in a
patient who presented late in
pregnancy. (Right) Ssgiuel
as previous image shows
associated cervical
dysraphism •• with
herniation of the posterior
{ossa contents and fourth
ventricle l1l:I. Given the poor
prognosis, the couple elected
nonintervention during labor.
2
77
SECTION 3
Face/Neck
Facial Cleft 3-2
Micrognathia 3-6
Abnormal Midface 3-12
Abnormal Eyes 3-16
Abnormal Ears 3-22
Macroglossia 3-24
Facial Mass 3-26
Neck Mass 3-30
FACIAL CLEFT
DIFFERENTIAL DIAGNOSIS • Back of tongue in defect
Common Helpful Clues for Common Diagnoses

• Isolated Cleft Lip, Palate • Isolated Cleft Lip, Palate
o Type 1 cleft lip (CL)
• Trisomy 18
• Trisomy 13 • Unilateral CL
• No palate defect
Less Common • ± Flattened nares
• Holoprosencephaly o Type 2 CL, cleft palate (CP)
• Amniotic Band Syndrome • 80% of all CL, CP
• Unilateral CL and CP
ESSENTIAL INFORMATION • Associated flat nares
o Type 3 CL, CP
Key Differential Diagnosis Issues • Bilateral CL and CP
• Routine face views • Premaxillary protrusion on profile view
o Profile • Dysplastic medial anterior palate is
o Coronal nose and lip mass-like and protrudes anteriorly
• 3D ultrasound technique for fetal face • Severe nose deformity often seen
o Obtain good 2D profile view o Type 4 CL, CP
• Midsagittal • Midline CL and CP
• Fluid in front of face • Anterior/mid palate defect
o Perform 3D sweep or 40 acquisition • Midface hypoplasia
• 40 is real time 3D • Flat dysplastic nose
• 40 resolution may not be as good as 3D o Isolated CP
sweep acquisition • Rare
o Soft tissue rendered view • Often involves only posterior soft palate
• Look for intact lip • Fetal MR may be best diagnostic test
• Look at nares and eyes • Trisomy 18
o Bone rendered view o 15% with CL/CP (type 2)
• Look for intact palate • Rarely type 1
o Reverse face 3D technique o Other facial anomalies
• Flip acquired profile view so baby is • Micrognathia
looking "down" • Low set ears
• Rendered 3D view looks from "behind o Other associated markers/anomalies
the palate" • Cardiac defects (90%)
• Shadow artifact is decreased • Choroid plexus cysts (50%)
• May improve detection of soft palate • Clenched hand & overlapping index
defects and small bony defects finger (50%)
• "Face predicts the brain" • Intrauterine growth restriction (50%)
o Look carefully at fetal brain if any facial • Brain anomaly (30%)
anomaly identified • Omphalocele (20%)
o Consider brain MR • Spina bifida (12%)
• Midline facial defects associated with • Clubfoot
midline brain defects • Rockerbottom foot
• Better than ultrasound for subtle • Diaphragmatic hernia
abnormalities, such as gray matter • Bladder outlet obstruction
heterotopia • Trisomy 13
• Isolated cleft palate is often missed o 50% with facial anomalies
o Posterior soft tissue defect • Type 3 or 4 CL/CP
o Fetal MR helpful • Cyclopia
o Sagittal view may be best • Hypotelorism
• Fluid in nasal cavity • Proboscis
3
2
FACIAL CLEFT ."
III
C'l
CD
Other associated markers/anomalies

Z
o • Amniotic Band Syndrome CD
C'l
• Holoprosencephaly (40%) o Entrapment of fetal parts by disrupted ~
• Postaxial polydactyly (75%) amnion
• Cardiac defects (80%) o Bizarre facial clefts
• Intracardiac echogenic focus • Do not conform to pattern of
• Cystic kidneys (50%) developmental clefts
• Omphalocele • Often oblique through face
• Intrauterine growth restriction (50%) o Other anomalies
Helpful Clues for Less Common Diagnoses • Bizarre abdominal wall defects
• Holoprosencephaly • Chest wall defects
o Arrest in brain cleavage and rotation • Scoliosis
o Alobar holoprosencephaly
• Atypical cephaloceles
• Acrania/acalvaria-like defect
• Most severe
• Fused thalamus • Amputations
• Limb constrictions with lymphedema
• Single ventricle
o Bands mayor may not be visible
• Brain mantle
• Dorsal sac Other Essential Information
o Semilobar holoprosencephaly • Teratogens associated with CL/CP
• Less severe than alobar o Alcohol
• Partially fused thalamus o Valproic acid
• Monoventricle anterior & occipital horns o Hydantoin
• Callosal dysgenesis o Retinoic acid
o Lobar holoprosencephaly • Aneuploidy rates with CL/CP
• Most mild form o Type 1, rare
• Absent cavum septi pellucidi o Type 2, 20%
• Fused fornices o Type 3, 30%
• Hypoplastic frontal lobes o Type 4, 50%
• ± Callosal dysgenesis • Ethnicity demographics for CL/CP
o Associated facial anomalies o 1:600 Asian
• Cyclopia o 1:1,000 Caucasian
• Hypotelorism o 1:2,500 African-American
• Proboscis
• Type 3 or 4 CL/CP
Isolated Cleft lip, Palate Isolated Cleft Lip, Palate
Coronal 3D ultresound shows a left-sided clei: lip =

with associared mild len nares flattening. No other fetal
Clinical phorograph of the same case afrer delivery
shows the left cleft lip and nasal flarrening. The baby
3
anomalies were seen and the family opted not to have was otherwise normal and did well afrer surgery.
an amniocentesis.
3
.ll:
U FACIAL ClEFT
Ql
Z
Qi
u
ell
U.
(Left) Coronal 3D ultrasound

bone rendered view shows a
cleft palate defect ~ in
association with a cleft lip.
This fetus has isolated type 2
cleft lip/palate. (Right) Axial
ultrasound at the level of the
fetal tongue BI in another
fetus shows a midline cleft
lip/palate =. The tip of the
nose I:l is Ilettened and lies
along the anterior edge of
the defect. This ietus has a
type 4 cleit lip and palate
defect.
Isolated Cleft Lip, Palate Isolated Cleft Lip, Palate

The cleft =
shows a mild type 1 cleft lip.
barely deforms
the upper lip and does not
extend to the nasal ala IlI!1
(Right) Clinical photogrspl:
ot the same Ietu: after
delivery shows the minimal
cleit in the lip. Note the nose
is not flattened. There was
no associated cleft palate.
shows a bilateral cleft lip 1:1
in a third trimester fetus.
(Right) Sagittal ultrasound of
the same fetus shows mega
cisterna magna III and a
small cerebellum BI. In
addition, there is partial
absence of the corpus
callosum with the anterior
portion present I:l and the
posterior part missing. The
fetus also had clenched
hands. Upon delivery,
trisomy 18 was diagnosed.
3
4
FACIAL CLEFT "T1
Dl
(')
CD
Z
CD
(')
~
(Left) Sagittal ultrasound of
the fetal face shows a
premaxillary protuberance
Ill. The appearance is
caused by bila/eral cleft lip
and palate. The central bony
maxillary tissue is dysplastic
and mass-like. (Right) Axial
ultrasound through the fetal
heart in the same fetus
shows an ecbogenic cardiac
focus Sl a ventricular septal
defect III and a single
atrium" Chromosome
analysis was performed and
revealed trisomy /3.
(Left) Coronal T2WI MR of

the fetal face shows a cleft
palate _ High signal fluid is
seen within the defect,
extending from the oral
cavity to the nasal cavity.
(RighI) Axial T2WI MR
through the calvarium of the
same fetus shows an anterior
brain mantle ~ lack of an
interhemispheric falx and a
monoventricle consistent
with holoprosencephaly.

through the upper lip shows
an oblique lip defect lIl/ha/
extends to the nares. In
addition, the Ietus had a
bizarre abdominal wall
defect and acrania. (Right)
Clinical photograph of the
same fetus after delivery
shows the large oblique
facial cleft. Proptosis and
acrania are a/50 present.
Oblique clefts, which do not
conform to a normal
developmental pattern,
should always raise the
suspicion of amniotic bands.
3
5
~ MICROGNATHIA
U
Gl
Z
Gi
ell
u DIFFERENTIAL DIAGNOSIS • Beaked nose, redundant skin, low set
LL ears, club feet
Common • Trisomy 18
• Technical o Facial features include micrognathia and
• Idiopathic clefting
• Oligohydramnios o Usually associated with growth restriction
• Trisomy 18 and multiple anomalies
Less Common • Ornphalocele, congential heart disease,
• Amniotic Band Syndrome abnormal finger positioning,
arthrogryposis/radial ray malformation,
Rare but Important
central nervous system anomalies,
• Pierre Robin Syndrome congenital diaphragmatic hernia
• Diabetic Embryopathy
• Treacher Collins Syndrome Helpful Clues for Less Common Diagnoses
• Cornelia de Lange Syndrome • Amniotic Band Syndrome
• Otocephaly o Random constriction/amputation defects;
• Other Syndromes/Conditions "slash" defects
o Careful search for bands mandatory as no
significant recurrence risk
ESSENTIAL INFORMATION • Linear echoes in amniotic fluid
Key Differential Diagnosis Issues • Extend from fetal parts to uterine wall
• Is micrognathia real or technical due to • Fetus appears tethered or in fixed
incorrect scan plane? position
o Reproducible finding if real o Occasionally, inspection of placenta after
• Use 3D ultrasound if available delivery may be only way to confirm
o Helpful to assess additional dysmorphic diagnosis
features (e.g., ear malposition, ear Helpful Clues for Rare Diagnoses
malformation, eye orientation) • Pierre Robin Syndrome
o Volume acquisition increases likelihood o Micrognathia often severe
that true midline sagittal view of profile is o U-shaped palatal cleft hard to see
being analyzed sonographically as lip intact but may be
o Surface rendering - way to qualitatively evident on MR
evaluate chin from different perspectives o Glossoptosis (posterior displacement of
• Help parents understand appearance and tongue), also easier to see on MR
consulting services plan treatment • Diabetic Embryopathy
• Mandibular measurements o Caudal regression sequence ± extremity
o Plethora of measurement described with malformations
some nomograms available, most are o Brain malformations including
technically challenging & not widely used holoprosencephaly
• Jaw index o Congenital heart disease, especially
• Mandibular area transposition and double outlet right
• Inferior facial angle, mandibular angle ventricle
• Mandible width/maxilla width ratio o Long standing diabetes - IUGR,
Helpful Clues for Common Diagnoses oligohydramnios
• Technical o Gastrointestinal malformations (e.g.,
o Incorrect scan plane anorectal atresia)
• Idiopathic o Genitourinary malformations (e.g., renal
o No other abnormalities identified agnesis)
o May be familial; look at both parents • Treacher Collins Syndrome
• Oligohydramnios o Genetic disorder characterized by
o Part of Potter sequence craniofacial deformities
3 o Down sloping palpebral fissures
6
MICROGNATHIA
o Malar hypoplasia • Important to recognize autosomal recessive

o Microtia conditions as 25% recurrence risk
• Cornelia de Lange Syndrome o Neu-Laxova syndrome
o Typical facies: Prominent upper lip, • Lethal syndrome with IUGR
crescent-shaped mouth, micrognathia, fine • Microcephaly
arched eyebrows, long eyelashes • Exophthalmos, absent eyelids
o Upper extremity limb reduction defects o Nager syndrome
o Congenital diaphragmatic hernia, • Severe micrognathia and malar
occasionally bilateral hypoplasia
o Intrauterine growth restriction (IUGR) • Spectrum of radial ray malformations
• Otocephaly • 28% survival reported
o Extremely rare but lethal anomaly • Some dispute as to nature of inheritance,
• Microstomia some cases appear dominant
• Aglossia or oroglossal hypoplasia Other Essential Information
• Agnathia or mandibular hypoplasia • Micrognathia may be associated with
• Synotia: Low set medially rotated ears skeletal dysplasia
o Fetus cannot swallow - marked
o Assess bone density
polyhydramnios o Measure long bone lengths
• Other Syndromes/Conditions o Look at vertebral contours
o Online Mendelian Inheritance in Man
o Use 3D ultrasound
(OM1M) database includes 211 genetic • If associated with ear anomalies may also be
conditions featuring micrognathia associated with renal malformations
o Many other multiple anomaly complexes
o Neonatal renal ultrasound worthwhile
without unifying diagnosis also feature • Other potential complications
micrognathia o Polyhydramnios - increased risk of
o Micrognathia is rarely isolated
preterm labor
o Presence mandates careful search for other
o Respiratory distress ± feeding difficulties
anomalies and consideration of of formal and typically requires one or more surgical
fetal echocardiography procedures for repair
• 22qll deletion associated with o Increased risk of genetic/syndromic
micrognathia and conotruncal condition
malformations
o Families should be evaluated by clinical
genetics service
Technical Technical
Sagittal ultrasound shows possible micrognathia

the second trimester. No other abnormal findings.
I!IlI in Sagittal transabdominal ultrasound in the same fetus as
previous image, shows normal profile in the third
3
Because fetal position precluded a better profile view, trimester. The apparent micrognathia was due to
follow-up was suggested. incorrect scan plane.
7
""u MICROGNATHIA
CIl
-
Z
U
III
CIl
LL.
Oligohydramnios
(Left) Clinical photograph
shows typical Potter
syndrome facies with low set
ears =:I
and flallened nose
lID Also note micrognathia
81. (Right) Transabdominal
ultrasound is extremely
compromised by maternal
obesity and
oligohydramnios. The lack of
fluid causes compression of
the fetus resulting in the
"squashed" appearance seen
in Potter syndrome, which
was due to renal agenesis in
this case.
(Left) Ssgius! ultrasound
shows a small mandible =:I
in a fetus with multiple other
anomalies and
polyhydramnios.
Amniocentesis showed
trisomy 18. (Right) Clinical
photograph in the same
patient, after near term
intrauterine fetal demise,
confirms micrognathia ffi
Trisomy 18
(Left) Transabdominal
ultrasound shows abnormal
posturing of the hand with
an over-riding index finger
1:11 typical of that seen in
trisomy 18. (Right) Axial
shows a strawberry-shaped
head 1:11 This is associated
with trisomy 18, especially jf
seen in association with
multiple anomalies.
3
8
MICROGNATHIA ."DI
n
!!!..
z
CD
n
;lI'"

(Left) Coronal
shows hypertelorism
externalized brain.
=
and a
small mandible SII. (Right)
image, shows a band =

in the same case as previous
in
the amniotic fluid anchoring
the externalized brain IIll 10
the uterine side wall SII.
Pierre Robin Syndrome Pierre Robin Syndrome

shows polyhydramnios and
micrognathia 1Ill.
Lissencephaly was also
present. Polyhydramnios
may have been caused by
neurological impairment
and/or mechanical problems
with swallowing due 10
micrognathia. (Right) Sagittal
T1 WI MR after delivery
shows micrognathia
glossoptosis (posterior
-= and
displacement of tongue) ~
typical of Pierre Robin
syndrome. Lissencephaly and
heterotopia were also
confirmed.
Pierre Robin Syndrome Pierre Robin Syndrome

(Left) Axial TlWI MR in the
same infant as previous
image, shows the typical
U-shaped palatal cleft III
(Right) Sagittal ultrasound in
a different case shows
micrognathia III with
marked protuberance of the
upper lip ElIl The cavum
sepli pellucid; was not seen
and fetal MR was performed.
This showed callosal
dysgenesis as well as a
palatal cleft and glossoplOsis.
Pierre Robin syndrome was
confirmed at birth.
3
9
.a:
o MICROGNATHIA
GI
Z
Gi
o
l'lI
u,
Diabetic Embryopathy
through the midface of a 15
week fetus shows a palate
= but no mandible Elll This
fetus also had severe caudal
regression. The mother was a
poorly controlled insulin
dependent diabetic. (Right)
Clinical photograph after
termination shows severe
micrognathia, confirming the
ultrasound Findings. Also
note the small/ow-set ears
=.
Treacher Collins Syndrome Treacher Collins Syndrome

shows severe retrognathia
and micrognathia III typical
(or this condition. (Right)
Sagittal oblique 3D
microtia =
as previous image, shows
as well as the
severe micrognathia 1m.

shows the typical (acial
appearance including
hirsutism, low set hairline
and high arched brows.
Micrognathia ~ upper lip
protuberance and limb
reduction defects are
characteristic findings on
prenatal ultrasound. (Right)
Sagittal transabdominal
ultrasound shows the fetal
sonographic correlation in
this case. The micrognathia
Ea and upper lip
prominence III are
characteristic of this
syndrome.
3
10
MICROGNATHIA ."
Dl
n
!t
Z
CD
n
~
Cornelia de lange Syndrome Cornelia de lange Syndrome
as previous image, shows
bilateral limb reduction
defects, one of which is seen
here lID. The limbs are
well-seen even in the third
trimester due to
polyhydramnios. (Right)
Coronal transabdominal
ultrasound through the chest
shows a large right-sided
diaphragmatic hernia with
liver III and gallbladder EilI
in the chest. Note that the
stomach lID has been pulled
over to a midline location.
(Left) Sagillal
shows polyhydramnios and
severe micrognathia •.
of the infant shows the
typical features of
otocephaly including
microstomia III synotia
(low-set medially rotated
ears) 111 and agnathia EilI.
Other Syndromes/Conditions Other Syndromes/Conditions

(Left) Ssgiue! ultrasound
shows micrognathia •.
There was also
polyhydramnios, which is a
typical associated finding
secondary to impaired
swallowing. (Right) Coronal
low-set, small ears III. Ear
anomalies are often seen
with micrognathia. There
was no definite unifying
diagnosis in this case.
3
11
~ ABNORMAL MIDFACE
U
GI
Z
~
U
III DIFFERENTIAL DIAGNOSIS • Absent/Small Nasal Bone (NB)
LL o Absent NB in first trimester
Common • Assess for NB at time of nuchal
• Midface Hypoplasia translucency screening
• Absent/Small Nasal Bone (NB) o Small NB in second trimester
• Trisomy 21 • < 2.5 mm at 15-20 wks
• Trisomy 13 o Marker for trisomy 21, but most often seen
• Cleft Lip, Palate in normals, especially in Asian population
• Holoprosencephaly Spectrum o Likelihood ratios (LR) of trisomy 21
Less Common • LR of 35 if absent NB in 1st trimester
• Skeletal Dysplasia • LR of 9 if small NB in 2nd trimester
• Trisomy 21
Rare but Important
o Flat face
• Warfarin (Coumadin) Exposure
• Small nose
• Midface hypoplasia
ESSENTIAL INFORMATION o Other markers
• Increased nuchal translucency/fold
• Mild ventriculomegaly
• Obtain profile view routinely • Short humerus/femur
o Assess nasal bone
• Echogenic bowel
• Should be present in first trimester • Echogenic cardiac focus
• > 2.5 mm in second trimester • Renal pelviectasis
o Note relationship of maxilla to mandible
• Clinodactyly
• Mandible slightly posterior to maxilla o Major anomalies
o Use 3D to reconstruct profile if not
• Atrioventricular septal defect
obtained by 2D
• Duodenal atresia
• Look for intact lip and palate routinely
• Trisomy 13
o Coronal nose/lip view
o Holoprosencephaly (40%)
• Axial palate view if suspect defect • + Associated facial anomalies
o 3D ultrasound helpful
• Type 3 or 4 cleft lip/palate
• Cleft lip/palate (CL/CP) classification o Polydactyly (75%)
o Type I: CL only, no CP
o Cardiac defects (80%)
o Type 2: Unilateral CL and CP
o Echogenic cystic kidneys (50%)
o Type 3: Bilateral CL and CP
o Intrauterine growth restriction (50%)
o Type 4: Midline CL and CP
• Cleft Lip, Palate
o CP only is rare and difficult to diagnose
o Nose is affected by CL/CP
• Posterior soft tissue defect • Cleft extends to nares
• MR may be a better test • Flat nares with types 1, 2
Helpful Clues for Common Diagnoses o Flat midface
• Midface Hypoplasia • Most common with type 4
o Flat profile • Nose invaginates towards defect
• Depressed nasal bridge o Premaxillary protuberance
o Maxillary hypoplasia • Mass-like area just below nose
• Maxilla lines up with mandible • 2° to dysplastic anterior palate
• Reverse overbite, if severe • Most often seen with type 3 CL/CP
o Often associated with other craniofacial • Large type 2 with abnormal profile also
anomalies o CL/CP associations
• Craniosynostosis • Trisomy 18, 13
• Hypotelorism • Holoprosencephaly
• Hypertelorism o Aneuploidy and type of CL /CP
• Cleft lip and palate • Type 1: Rare
3
12
ABNORMAL MIDFACE ."
III
n
III
Stippled epiphyses
Z
• Type 2: 20% a III
n
• Type 3: 30% ~
• Type 4: 50% • Craniosynostosis syndromes associated with
• Holoprosencephaly Spectrum midface hypoplasia
a Alobar, semilobar, lobar
a Apert syndrome
a Cyclopia with proboscis
• Acrocephalosyndactyly type 1
a Ethrnocephaly
• Coronal suture fusion
• Proboscis with hypotelorism • Conical skull shape
a Cebocephaly
• "Mitten" hand and feet syndactyly
• Flat nose with single nostril • Extensive, often boney, fusion
a Median cleft lip/palate
a Carpenter syndrome
Helpful Clues for Less Common Diagnoses • Acrocephalosyndactyly type 2
• Skeletal Dysplasia • Multiple suture craniosynostosis
a Thanatophoric dysplasia • Preaxial polydactyly
• Cloverleaf skull (Kleeblattschadel) • Partial syndactyly
• Frontal bossing • Cardiac defects
• Short upturned nose • Ornphalocele, hernia
• Depressed nasal bridge • Other syndromes associated with midface
• Micromelia hypoplasia
• "Telephone receiver" femur a Cornelia de Lange syndrome
• Platyspondyly • Protruding upper lip with micrognathia
a Achondroplasia (heterozygous) • Upper limb reduction
• Frontal bossing • Diaphragmatic hernia
• Depressed nasal bridge • Short 1st metacarpal
• Progressive rhizomelia a Fryns syndrome
• Trident hands • Depressed nasal bridge
a Achondroplasia (homozygous) • Oro facial cleft
• Severe and early bone shortening • Cardiac defect
• Lethal • Diaphragmatic hernia
Helpful Clues for Rare Diagnoses • Digital hypoplasia
• Warfarin (Coumadin) Exposure
a Severe nasal hypoplasia
a Rhizomelia (proximal limb shortening)
Midface Hypoplasia Absent/Small Nasal Bone
Sagittal ultrasound shows a flat midface. The nose

and maxilla a:I are small. The mandible BI protrudes
= Sagittal ultrasound at 18 weeks shows a small nasal
bone =. While most fetuses with this finding are
3
anterior to the maxilla. This fetus had other anomalies as normal, it is associated with trisomy 21 and a careful
well. targeted exam should be performed.
13
~ ABNORMAL MIDFACE
U
GI
Z
Qj
u
cv
u..
(Left) Sagittal ultrasound in
the second trimester shows a
depressed nasal bridge with
a hypoplastic nasal bone 11:1
and a flat midface E!lI. No
other anomalies were
appreciated and genetic
testing was declined. (Right)
Sagittal 3D ultrasound of the
same fetus as previous
image, in the third trimester
shows a flat, small midface,
typical for trisomy 21. The
diagnosis was made after
delivery.
Trisomy 13 Cleft lip, Palate

head at 14 weeks shows a
premaxillary mass 11:1 and
nuchal edema E!lI. The
premaxillary mass suggests
the presence of bilateral
CUCP. Chorionic villus
sampling was performed on
the same day and yielded
trisomy 13. (Right) Sagittal
ultrasound of another fetus
to a large palate defect =

shows a flat face secondary
Fluid is seen extending into

the nasal cavity E!lI. The
nose is flat and deformed
=
shows an absent nose and a
flat midface ~ in a fetus
with holoprosencephaly. An
anterior brain mantle HI and
monoventricle ~ are also
seen in this view. (Right) 3D
ultrasound shows a flat,
small midface IIlII and a tiny
proboscis ~ in another fetus
with holoprosencephaly,
hypotelorism, and normal
chromosomes.
3
14
ABNORMAL MIDFACE ."
III
C'l
CD
Z
CD
o
~
(Leh) Sagittal ultrasound
shows a midline orbit =
. =
above which ;5 a proboscis
.. '.
in a fetus with cyclopia
.- -
,..•":,.,..•.
~..
~ and holoprosencephaly.
.~ ..
,
,-
~. .' another fetus with

holoprosencephaly and
.~
~
~l'
-
-
.~
.
proboscis =
trisomy 13 shows a
adjacent to the
fetal forehead. The midface
IlI:I is small and flat. A two
••• vessel cord is also seen iii.
~.~
'e..;..,t
Skeletal Dysplasia Skeletal Dysplasia

(Left) Sagittal ultrasound of a
fetus with thanatophoric
dysplasia shows a short
upturned nose III frontal
bossing E!ll and a flat
midface. The limbs were
extremely short, and there
was also chest hypoplasia
and severe polyhydramnios,
(Right) Sagittal radiograph of
the same fetus as previous
image, after delivery, shows
an abnormal head shape
with creniosynostosls and
midface hypoplasia.
Warfarin (Coumadin) Exposure Warfarin (Coumadin) Exposure

(Leh) Sagittal ultrasound of a
third trimester fetus exposed
nasal =
to warfarin shows severe
and midface
hypoplasia. (Right) Clinical
photograph of the same fetus
as previous image, after
delivery, confirms the
ultrasound findings.
3
15
...:
(,) ABNORMAL EYES
Gl
-
Z
Gl
(,)
1Il DIFFERENTIAL DIAGNOSIS • Variable amount of globe doubling
LL • Dysplastic tissue may cover orbit
Common • Proboscis often above eyes
• Hypotelorism o Ethmocephaly
• Hypertelorism • Proboscis separates close set eyes
Less Common o Cebocephaly
• Proptosis • Infraorbital flat nose with single nostril

• Dacrocystocele o Associated cleft lip and palate
• Most common is median cleft lip/palate
Rare but Important
• Hypertelorism
• Orbital Tumors o Eyes too far apart
• Anophthalmia/Microphthalmia
• t 100
• t BOD is less prominent feature
ESSENTIAL INFORMATION o Associated brain anomalies may be subtle
• Agenesis of corpus callosum
Key Differential Diagnosis Issues o Other craniofacial defects common
• Consider routine imaging of fetal orbits • Bilateral cleft lip and palate
o Axial view at level of eyes
• Large unilateral cleft lip and palate
• Evaluate bony orbit and globes • Craniosynostosis
o Coronal face view with 3D ultrasound
• Orbital biometry Helpful Clues for Less Common Diagnoses
o Binocular diameter (BOD) • Proptosis
• Outer to outer margin of both orbits o Exophytic eyes
o Interocular diameter (100) o Forward displacement of globes
• Inner to inner margin between orbits o Often associated with boney cranial
o Ocular diameter (00) anomalies
• Single bony orbit diameter • Dacrocystocele
• Rule of "thirds" for normal biometry o Dilatation of lacrimal drainage system
o Normal 100 = 00 • Imperforate valves of Hasner
• A "third eye" should fit between orbits • Can be large and cause nasal obstruction
• Orbital nomograms are available o "Cyst" medial to orbit
o Gestational age vs. 00, 100, BOD values • Unilateral or bilateral
o 10D/BOD percentiles o Most resolve on own
• "Face predicts the brain" • In utero or during first year of life

o Look carefully for brain anomalies Helpful Clues for Rare Diagnoses
o Look for other face anomalies, including • Orbital Tumors
subtle findings such as lack of vermillion o Solid mass in orbit
border • Often large and vascular
Helpful Clues for Common Diagnoses o Globe may be displaced or destroyed
• Hypotelorism • Unilateral proptosis most common

o Eyes too close together finding
o Boney orbit distorted or destroyed
• ~ 100, ~ BOD
o Hypotelorism is rarely an isolated finding o Look for calcifications in mass (teratoma)
• Holoprosencephaly is a major association • Anophthalmia/Microphthalmia
o Associated nose anomalies o Absent or small globe
• Proboscis (tube-like nose) • Optic vesicle fails to form appropriately

• Nose with single nostril o Unilateral or bilateral
• Superior displacement of nose or Other Essential Information

proboscis is a common finding • 3D ultrasound extremely helpful
o Cyclopia is most severe type o Soft tissue detailed anatomy
• Single bony orbit o Bone-rendered images
3
16
ABNORMAL EYES "Tl
Ql
o
!!.
z
• Facial clefts o Microcephaly CD
n
• Fused sutures (craniosynostosis) o Craniosynostosis ~
o Helps non-imagers see the anomalies • Trigonocephaly
• Parents, genetic counselors, surgeons o Srnith-Lernli-Opitz syndrome
• Fetal MR o Meckel-Gruber syndrome
o Helps identify subtle and additional brain o Myotonic dystrophy
anomalies • Hypertelorism Associations
o Better delineate extent of tumors o Agenesis of corpus callosum
• Look for signs of holoprosencephaly if o Craniosynostosis
hypotelorism present • Apert syndrome
o Alobar holoprosencephaly • Carpenter syndrome
• Severe facial anomalies • Crouzon syndrome
• Single ventricle • Thanatophoric dysplasia
• No falx o Anterior encephalocele
• Fused thalami o Midline facial mass or cleft
• Dorsal sac o Turner syndrome
o Semilobar holoprosencephaly o Trisomy 13
• Less severe than alobar o Antiepileptic drug use
• Face with less severe anomalies or • Proptosis Associations
normal o Anencephaly
• Monoventricle anteriorly with separate o Apert syndrome
occipital horns o Treacher-Collins syndrome
• Incomplete falx o Pfeiffer syndrome
• Partially cleaved thalamus o Neu-Laxova syndrome
o Lobar holoprosencephaly • Anophthalmus/Micropthalmus Causes
• Often with normal face o Single gene mutation
• Least severe form o Infection
• Absent cavum septi pellucidi o X-ray exposure
• Fused fornices • Orbital Tumors Types
o Teratoma
Alternative Differential Approaches
o Retinoblastoma
• Hypotelorism Associations
o Soft tissue sarcoma
o Trisomy 13
o Rhabdoid tumor
o Trisomy 18
o Neurofibroma
Axial ultrasound shows the two orbits IIlII are very close
to each otber. A small interoculsr distance HI is seen.
Coronal 3D ultrasound of the same fetus shows the
decreased interocular distance 1IlII. In addition, the fetus
3
The fetus also had semilobar holoprosencephaly and has a small nose and a flat midface.
normal chromosomes. 17
ABNORMAL EYES
Hypotelorism
shows two small orbits IlIlI
with no significant
intraorbital distance. The
nose is missing and the fetal
mouth III is small without a
normal upper lip vermillion
border. (Right) Coronal
ultrasound in another case
shows a single orbit without
a discernible globe = In
addition, a proboscis is seen
en face and superior to the
orbit 11:1.
Hypotelorism Hypotelorism
two globes IlIlI in one bony
orbit (calipers). Note the
nuchal skin thickening HI
and the fluid-filled calvarium
m (Right) Coronal
ultrasound through the head
in the same fetus shows
fused thalami 1lIlI. This fetus
had alobar
holoprosencephaly and
trisomy 13.
Hypertelorism
(Left) Axial T2WI MR
through the orbits shows that
eyes are far apart IlIlI and
slightly proptotic. The
calvarium is also misshapen
and brachycephalic. (Right)
same case shows
hypertelorism as well as a
markedly misshapen head
from craniosynostosis.
3
18
ABNORMAL EYES ."
III
n
!!.
z
CD
n
~
Hypertelorism Hypertelorism
shows increased interocular
distance (calipers). (Right)
Coronal ultrasound through
the upper lip • shows a
lack of a vermillion border.
The fetus also had a flat
midface, echogenic kidneys
and a single umbilical artery.
Hypertelorism H ypertelorism
(Left) Coronal
shows an increased
interocular distance. and
a consistently clenched hand
lEI from syndactyly in this
fetus with Apert syndrome.
shows hypertelorism in the
same fetus with Apert
syndrome.
Hypertelorism
that the distance between
the eyes (calipers) is
approximately twice what is
expected. (Right) Frontal 3D
ultrasound confirms widely
spaced eyes III. The fetus
also had an inferior vermian
defect and normal
chromosomes.
3
19
~ ABNORMAL EYES
o
Q)
-z
Q)
(,)
III
u,
Proptosis
shows proptosis =
through the orbits of a twin
and
hypertelorism. The fetal head
shape is abnormal and there
is bulging of the temporal
lobes BII. (Right) Coronal
ultrasound through the
calvarium in the same case
shows a cloverleaf
configuration of the skull
caused by craniosynostosis.
=
This is a case of Pfeiffer
syndrome.
(leit) Coronal oblique 3D
=
ultrasound shows proptosis
in a fetus with
anencephaly. The skull base
is malformed with shallow
orbits creating this
appearance. (Right)
Anteroposterior radiograph
shows abnormally shaped
orbits BII in another fetus
with exencephaly and
proptosis. Note the splaying
of the superior cervical
vertebral bodies •.
Dacrocystocele
two small cysts =

(Leit) Axial ultrasound shows
located
medial to the globes E!il
adjacent to the nose. These
cysts are in the expected
region of the lacrimal
drainage ducts. (Right)
Coronal 3D ultrasound
dacrocystocele =
shows the mass-like
between
the eye IIlIlI and the nose.
3
20
ABNORMAL EYES ."
III
C'l
!t
z
lD
C'l
;II"
(Leit} Sagittal oblique 3D

ultrasound from the prior
case show the
dacrocystocele = in a
different projection. (RighI)
newborn shows a small
slightly discolored medial
eye mass. Most
dacrocystoceJes resolve in
utero or during the first year
ot Iite.
Orbital Tumors Orbital Tumors

(Lefl) Axial ultrasound
through the orbits shows
unilateral proptosis
secondary to an enlarged
echogenic globe =. The
normal eye is partially seen
Bl (RighI) Coronal
ultrasound of the face
confirms the diagnosis of a
globe enlarged by tumor
Unilateral proptosis ;s the
=.
most common finding of an
orbitet tumor.
Anophthalmia! Microphthalmia Anophthalmia/Microphthalmia

shows no identifiable facial
features ;n a fetus with
atelencephaly (lethal
malformation with
developmental arrest of
telencephalon). On autopsy,
there were no orbits, nasal
structures or mouth. (RighI)
Axial ultrasound through the
orbits shows another case
small orbits =.
with hypertelorism, very
microphthalmia.
and
3
21
.:.: ABNORMAL EARS
o
Gl
Z
Gi
o DIFFERENTIAL DIAGNOSIS • With or without absent auricular
Cll
LL. components
Common o Anotia = no external ears
• Low Set Ears
• Deficient or Absent Ear
• Lop Ear
less Common o Deformed ear cartilage
• Lop Ear • Top of ear curls downward
• Protruding Ear o Often isolated
• Autosomal dominant inheritance
ESSENTIAL INFORMATION described
o Associated with other anomalies
Key Differential Diagnosis Issues • Anencephaly
• Normal ear position • Other syndromes with cartilage defects
o Top of helix is at the inner canthi eye level • Protruding Ear
• Ear size evaluation o Ear protrudes> 25° from head
o Ear length = 1/3 biparietal diameter o Most often idiopathic
o Ear width is more variable • Show ears are not low set
• Use 3D to evaluate morphology
o Helix is most external curve of auricle
o Antihelix is V-shaped internal auricle • Association with aneuploidy
o Trisomy 21
o Tragus lies over external meatus
o Trisomy 18
o Antitragus faces tragus
o Trisomy 13
Helpful Clues for Common Diagnoses o Turner syndrome
• Low Set Ears • Ear anomalies are highly associated with
o Top of helix is lower than inner canthi line micrognathia
o Associated with micrognathia • Low set and deficient ears commonly seen in
• Treacher Collins syndrome oligohydramnios
• Nager syndrome • Supernumerary parts can mimic facial
• Pierre Robin syndrome masses
• Aneuploidy o Auricular tags
• Deficient or Absent Ear o Auricular duplication
o Microtia = small ears
low Set Ears low Set Ears
3 Coronal ultrasound shows the ear = kxsted near the

top of the neck HI in this fetus with Treacher Collins
Segiue' ultrasound in the same fetus with Treacher
syndrome. =.
Collins syndrome shows micrognathia. The mandible is
small and recessed
22
ABNORMAL EARS "TI
III
n
!!..
z
CIl
,..
n
Deficient or Absent Ear

ultrasound shows a small,
low-set ear" ;n a fetus with
multiple other anomalies.
=
shows a low set deficient ear
The top of the ear
should be at the level of the
inner canthus line ffi The
micrognathia =
fetus also had a cleft lip and
Chromosomes were normal.
(Left) 3D ultrasound shows

the top of the ear bent away
from the head and curled
downward = (Right)
neonate confirms the
diagnosis.-:ll. The baby had
multiple other anomalies as
well.
Protruding Ear
shows the ear protruding
away from the fetal head lEI.
This fetus also had a
unilateral cleft lip and palate.
(Right) 3D ultrasound shows
normal ear morphology and
positioning in the same
patient. Protruding ears are
usually idiopathic and may
be hereditary.
3
23
MACROGLOSSIA
DIFFERENTIAL DIAGNOSIS o Epignathus typically very large with

cystic/solid/calcified components
Common
• Idiopathic
• Idiopathic
• Trisomy 21
o Structurally normal fetus
Less Common • No signs of aneuploidy particularly
• Beckwith-Wiedemann Syndrome trisomy 21
• Oral Mass (Mimic) • Size appropriate for dates
• Trisomy 21
ESSENTIAL INFORMATION o Correlate with a priori risk and look for
sonographic markers
Key Differential Diagnosis Issues • Absent nasal bone/thick nuchal
• Normal fetal movements include fold/mild ventriculomegaly
swallowing, thumb sucking and tongue • Congenital heart disease, particularly
motion atrioventricular septal defect
• Macroglossia implies that the tongue is too • Duodenal atresia/echogenic
large to fit in oral cavity bowel/pyelectasis
• Down syndrome fetuses may exhibit "tongue • Short humerus/femur
thrusting" movements in third trimester • Clinodactyly/sandal gap toe
o Tongue protrudes intermittently due to lax
muscle tone Helpful Clues for Less Common Diagnoses
• If tongue seems "too easy to see" look • Beckwith-Wiedemann Syndrome
o Macroglossia in 97%
carefully for facial cleft
o Fetal overgrowth in 88%
o Coronal view of nose/lips
o Omphalocele/umbilical hernia in 80%
o Axial view of tooth buds
o Organomegaly
• Lymphangioma may cause tongue
o At increased risk for severe neonatal
enlargement
o Rare amongst head and neck
hypoglycemia sufficient to cause brain
lymphangiomas injury
o Childhood tumors develop in up to 10%
o More likely to present in childhood than
in fetus of cases (Wilms tumor most common)
• Oral masses can be confusing
o Sometimes hard to tell if a mass originates
in tongue or palate
Idiopathic Idiopathic
3 Sagittal transabdominal ultrasound during the course of

a growth assessment for fXXJr maternal weight gain
Sagittal transabdominal ultrasound shows another fetus
with its tongue protruding =. This was a trensien:
showed this fetus "licking" the placenta. The tongue IIllI phenomenon, and the infant was normal at birth.
fit in the mouth and the infant was normal at birth.
24
MACROGLOSSIA ."III
o
!!!..
z
CD
n
~
(Left) Coronal
transabdominal ultrasound of
the face shows a protruding
tongue Il:l and broad flat
nose III typical of the Down
syndrome facies. (RighV
Four chamber view of the
heart in the same fetus
shows an unbalanced
atrioventricular septal defect
with a small right ventricle
m
III larger left ventricle
and ventricular septal defect
B. Amniocentesis
confirmed trisomy 21.
Trisomy 21 Beckwith-Wiedemann Syndrome

(Left) Sagittal ultrasound in
the same fetus as two prior
images shows persistent
protrusion of the tongue III
Persistent protrusion is the
hallmark of macroglossia, as
the tongue is too large to be
contained within the oral
cavity. (RighV Coronal
ultrasound shows a more
subtle appearance of tongue
protrusion III in a fetus with
Beckwith-Wiedemann
syndrome. This was not
appreciated prospectively.

(LefV Axial ultrasound in the
same fetus as the prior image
shows an omphalocele III
and cystic degeneration of
Wharton jelly III.
Omphalocele is a common
finding in
Beckwith·Wiedemann
ultrasound in a different case
shows enlargement of the left
kidney III noted during a
biophysical profile. There
were no other abnormalities,
but the fetus was large for
dates. Beckwith-Wiedemann
syndrome was diagnosed
postnatally.
3
25
FACIAL MASS
DIFFERENTIAL DIAGNOSIS • Palate protuberance on profile view

• 3D shows morphology best
Common o Cleft lip, palate (CLlCP) classification
• Premaxillary Protrusion • Type 1: Unilateral CL only
o Cleft Lip, Palate • Type 2: Unilateral CL/CP
• Proboscis • Type 3: Bilateral CL/CP
Less Common • Type 4: Midline CL/CP
• Epignathus • Proboscis
• Frontal Encephalocele o Tube-like soft tissue midface structure
• Proboscis instead of normal nose
Rare but Important
• Superior to eyes or between eyes
• Preauricular Tags • May lie flush with forehead
• Orbital Tumors o Orbit anomalies with proboscis
• Cyclopia
ESSENTIAL INFORMATION • Hypotelorism
o Holoprosencephaly association
• Alobar
• Routine views of fetal face
• Semilobar
o Profile
o Aneuploidy
• Nasal bone assessment • Trisomy 13 most common
• Rule out micrognathia
• Trisomy 18
o Orbit
• Axial and coronal views Helpful Clues for Less Common Diagnoses
• Note distance between eyes • Epignathus
o Nose and lip assessment o Teratoma
• Coronal soft tissue view • Arises from oral or nasal cavity
• 3D ultrasound technique • Calcification in 50% (diagnostic)
o Acquisition best from profile view o Large, fungating oral mass
o Need fluid in front of face • Fills oral cavity then emanates from
o Soft tissue rendered views mouth and/or nose
• Assess eyes, nose and lips on one image o Can have intracranial extension
o Bone rendered views • Transsphenoidal extension
• Bony palate • Extra-axial mass
• Sutures o Polyhydramnios from impaired swallowing
• 4D ultrasound o MR
o 3D in real time = 4D • Helpful in determining extent of mass
o Static 3D has better resolution • Can identify fat within lesion
• MR • Frontal Encephalocele
o Better delineation of extension of masses o Skull defect in frontoethmoidal region
o Best for associated subtle brain anomalies with herniation of intracranial structures
• Skin-covered
o Nasofrontal
• Premaxillary Protrusion
• Between frontal and nasal bones
o From bilateral cleft lip, palate
o Nasoethmoidal
• Bilateral cleft palate leaves midline
• Between nasal bones and nasal cartilage
"island" of dysplastic maxillary tissue o Nasoorbital
• Axial palate view shows defects best
• Through medial orbital defect
• Profile view shows mass-like structure
o Associated with other midline anomalies
• 3D shows mass under nose
• Hypertelorism
o May be seen with unilateral cleft lip/palate
• Corpus callosum anomalies
• Large cleft palate defect
• Heterotopia
• Alveolar ridge anteriorly displaced
• Interhemispheric lipoma
3
26
FACIAL MASS "
III
o
til
Z
o Most common in Southeast Asia • Small bony defect til
(")
:01'"
• 1:1,000 • Subtle brain herniation
o Better prognosis than OCCipital or parietal o Consider MR for unexplained
encephaloceles hypertelorism
• Facial anomalies with holoprosencephaly
o Cyclopia is most severe type
• Preauricular Tags
• Single bony orbit
o Supernumerary ear parts
• Variable amount of globe present
• Duplication of embryologic components
• Proboscis often above orbit
o Skin "tags" with variable differentiation
o Ethmocephaly
• Found at embryologic junctions
• Proboscis separates close set eyes
o Preauricular tag
o Cebocephaly
• Anterior to ear • Infraorbital flat nose with single nostril
• Looks like a cheek mass • Orbital tumors may present with proptosis
o Associated with other facial and ear
(2 etiologies)
anomalies
o Retroorbital tumor
• Micrognathia most common
• Pushes globe forward
• Orbital Tumors o Tumor involves globe
o Group of rare tumors
• Enlarged globe
• Retinoblastoma • Look for fat or calcification in mass
• Teratoma o Teratoma most likely diagnosis if either
• Rhabdomyosarcoma
present
• Rhabdoid tumor
• Neurofibroma Alternative Differential Approaches
o Often large solid mass • "Mass-like" face lesions
• Involved globe mayor may not be o Premaxillary protuberance
identified o Proboscis
• Bony anatomy may be distorted o Frontal encephalocele
• Mass is vascular o Preauricular tags
o Small masses • True face masses
• May present with proptosis only o Epignathus
o Orbital tumors
• Frontal encephaloceles easily missed
o Hypertelorism may be the only finding
Premaxillary Protrusion
Sagittal ultrasound shaws an abnormal felal profife with

a "mass-like" bony protrusion =:I beneath the nose Ea.
Frontal 3D ultrasound of the same fetus shows the
bilateral cleft lip defects =:I. The anterior maxillary
3
This appearance is typical for type 3 cleft lip/palate. "mass" IIIiI beneath the nose is seen well with 3D
ultrasound.
27
FACIAL MASS
Premaxillary Protrusion Premaxillary Protrusion

(Left) Clinical photograph of
a large unilateral cleft/ip,
pa/ale shows anterior
displacement of the maxilla
=:I. On a profile view, this
tissue will look mass-like.
through the alveolar ridge of
a fetus with a large cleft lip,
palate defect shows the
palate defect 11':1 and the
anteriorly displaced alveolar
ridge =:I, as compared to the
contralateral side Bl

shows a tube-like proboscis
=:I extending superiorly
above the eyes EllI. There is
severe hypotelorism and
holoprosencephaly (not
shown). (Right) Clinical
photograph shows a
proboscis = in another fetus
with holoprosencephaly and
cyclopia.

the fetal face shows a large
mixed cystic and solid mass
=:I growing out of the
mouth. The mandible 11':1 is
held open. (Right) Clinical
photograph shows the fetus
during ex utero intrapartum
treatment (EXIT). The mass is
controlled while the
intubation is performed. The
teratoma was subsequently
resected.
3
28
FACIAL MASS ."
III
n
!t
Z
CD
n
~
Epignathus
shows a mostly solid mass
~ extending Irom the tete!
mouth. (Right) Sagittal T IWI
MR alter delivery shows the
mass had grown during letal
life. Focal areas 01 low signal
~ may be calcilication or
fluid.
Frontal Encephalocele Preauricular Tags

shows an anterior calvarial
bony detect = with
herniating brain Bl This
ietus also had hypertelorism.
(Right) Sagittal oblique 3D
ultrasound in another fetus
shows a normal ear II1II and a
curvifinear preauricular skin
tag ~ The letus also had
multiple other anomalies.
Orbital Tumors Orbital Tumors

shows a large solid and
cystic orbital mass =. The
involved globe is not
identilied and the nasal
septum RI is deviated
towards the normal eye Ill.
(Right) Sagittal color
Doppler ultrasound locused
on the mass shows it is very
vascular. The final diagnosis
was rhabdomyosarcoma.
3
29
.>l: NECK MASS
U
Gl
-
Z
Gl
U
III
u,
DIFFERENTIAL DIAGNOSIS o Aneuploidy in 2/3 of fetuses with 2nd
trimester cystic hygroma
Common • Turner syndrome most common,
• Cystic Hygroma especially for larger septated hygromas
• Nuchal Cord, Mimic • Trisomy 21 next most common; smaller
• Occipital Encephalocele less complicated hygromas and nuchal
less Common skin thickening
• Cervical Teratoma o Cardiovascular anomalies often present
• Goiter • Aortic arch defects most frequent,

• Truncal Lymphangioma especially in Turner syndrome
• Nuchal Cord, Mimic
Rare but Important o Nuchal cord can be confused with cystic
• Iniencephaly hygroma on grayscale images
o Obvious flow with color Doppler
ESSENTIAL INFORMATION o Cords with less vascular coiling are more
pliable and more likely to wrap around
Key Differential Diagnosis Issues neck
• Is the mass predominately cystic or solid? o Longer cords also have increased incidence
o Cystic favors cystic hygroma
of nuchal wrapping
o Solid favors teratoma, goiter or
• Occipital Encephalocele
encephalocele o Osseous defect should be demonstrated
• Where is it located? • Usually midline: Occipital
o Posterior masses favor cystic hygroma and
• Lateral: Parietal, inferior temporal
cephaloceles • May be difficult to see with small defect
o Anterior masses favor teratoma or goiter
o Cephalocele
• Always check the calvarium and spine • More generic term for herniation of
o If intact, encephalocele and spinal defect
intracranial contents
excluded o Encephalocele
• Always use color Doppler • Meninges & brain
o Rule out nuchal cord
• Most common
o Look for flow within mass
o Cranial meningocele
Helpful Clues for Common Diagnoses • Meninges only
• Cystic Hygroma o Chiari III
o Result of failed/delayed jugular • Hindbrain malformation
venous-lymphatic connection • Cerebellum herniated into cephalocele
• Creates a multiseptated nuchal fluid o Diverse appearance of herniated neural
collection tissue
o Located in posterior subcutaneous tissues, • Gyral pattern may be identified
frequently wrapping around laterally • Mixed cystic/solid mass
• May involve only one side of neck • "Cyst within a cyst" or "target" sign
causing postural abnormality suggests prolapsed 4th ventricle
o May be massive and mimic amniotic fluid • In first trimester head may look small or
• Concern for airway obstruction at birth irregular
o Internal septations o Microcephaly in 25%
• Multiple, fine linear septations o Other central nervous system anomalies
• Thick, midline septation is nuchal common
ligament o Large OCCipitalcephaloceles may also
o Nonimmune hydrops common with large involve cervical spine
hygromas Helpful Clues for Less Common Diagnoses
o Small cystic hygromas can evolve into
• Cervical Teratoma
thick nuchal fold
3
30
NECK MASS "Tl
III
n
C1l
o Mixed cystic and solid mass involving o May extend into deep tissues of neck but Z
C1l
n
anterior aspect of neck primarily involves axilla, chest and arm ~
• Frequently extends to involve o Morphologically identical to cystic
surrounding structures hygroma
o Calcifications are virtually pathognomonic
of teratoma
• Iniencephaly
o Head is often held in hyperextension or o Extensive open neural tube defect
deviated to one side characterized by
o Polyhydramnios from upper esophageal • Defect in occipital bone and inion
obstruction
• Occipital encephalocele
o Solid portions of mass often very vascular
• Spinal dysraphism which often extends
• Arteriovenous shunting may be present into thoracic and even lumbar area
• Vascular shunting may result in hydrops • Fixed hyperextension of head ("stargazer"
• Goiter position)
o Fetal goiter may result from overtreatment
• Missing or fused cervical vertebrae
of maternal hyperthyroidism,
transplacental passage of anti-thyroid Other Essential Information
antibodies or congenital hypothyroidism • Postural abnormality of neck may be
o Solid, homogeneous anterior neck progressive as mass grows over gestation
o Maintains normal thyroid contour and o May require cesarean section
echogenicity • Large neck masses may compromise airway
o Use color Doppler in coronal view to at birth leading to asphyxia
evaluate carotid arteries and jugular veins o Preplanning essential
• Large goiter will cause lateral o May require EXIT procedure (ex-utero
displacement intrapartum treatment)
o May obstruct swallowing causing • Fetus is partially delivered by cesarean
polyhydramnios section section while placenta and
o May prevent normal fetal "chin tuck" - umbilical cord remain intact
extended neck - obstructed labor • Uteroplacental gas exchange maintained
• If fetus is able to flex the chin to chest, a • Fetus remains hemodynamically stable
goiter is unlikely to affect mode of while airway is established
delivery or airway at birth • Avoids "crash" attempt at achieving
• Truncal Lymphangioma airway at birth
Cystic Hygroma
Axial ultrasound shows a large cystic hygroma with

multiple thin septa lions •• emanating away from the
Radiograph shows a giant hygroma =:I engulfing the
fetal head. Also note the soft tissue edema from
3
fetal head. The midline septation is the nuchal ligament generalized hydrops, a common complication. Large
Ea. This fetus had Turner syndrome. hygromas are often associated with Turner syndrome.
31
oX
U NECK MASS
CI>
-
Z
CI>
U
"'
u..
(Left) Coronal ultrasound of

the fetal neck shows a large,
multiseptated cystic mass =:I
along the right side of the
neck. (Right) Coronal T2WI
MR in the same case as
previous image, shows the
hygroma involving the deep
tissues of the neck E!llI. It
surrounds the neck vessels,
which appear as flow voids
!l:I. Postnatal imaging
confirmed the infiltrative
nature of the mass. This fetus
had normal chromosomes.

nuchal fold thickening
(calipers) with fluid,
consistent with a relatively
small cystic hygroma. (Right)
Sagittal 3D ultrasound also
shows the increased bulge
behind the neck =:I.In the
third trimester, the cystic
hygroma fluid resolved, and
the fetus was left with
residual increased skin
thickness behind the neck.
This appearance of a cystic
hygroma is more commonly
seen in trisomy 21, which
was con(;rmed after delivery.
Nuchal Cord, Mimic Nuchal Cord, Mimic

a cystic If mass" around the
neck =:I. (Right) Axial color
Doppler ultrasound quickly
reveals that the mass is
actually a nuchal cord with
two loops wrapped around
the neck. Note the cord does
not show the normal coiling,
which is felt to be a risk
factor for developing a
nuchal cord.
3
32
NECK MASS
"
II>
n
lD
Z
lD
n
~
(Left) Sagillal ultrasound

shows a large septated
nuchal mass m which
cystic hygroma. Note that
spinous processes of the
cervical spine are nor seen.
as previous image, shows a
=
large occipital skull defect
with herniation of
intracranial contents. There
is a "cyst within a cyst" or
"target" sign, which is
created when the 4th
ventricle HI herniates into
the cephalocele m

from the same case as
previous image, shows the
large occipital/high cervical
meningoencephalocele, a
Chiari 11/ malformation.
shows a typical example of a
complex neck mass

both cystic and solid
=
cervical teratoma. There is a
with
components. The head BI is

displaced to the side. The
mass is approximately the
same size as the fetal head.
The fetus was delivered
using the EXIT procedure
and the mass resected.

fetal neck (spinous process
of cervical vertebra ffi
shows a markedly enlarged
thyroid gland (calipers). It
has the same morphology
and homogeneous
echogenicity as an adult
thyroid. (Right) Sagittal T2WI
MR postmortem shows
typical features of
iniencephaly. There are
=
missing and fused vertebrae
and a large cranial and
spinal defect BI. The neck is
retroflexed, and the eyes PIill
are held in the "stargazer"
position.
3
33
,
SECTION 4
Chest
Thoracic Fluid Collection 4-2
Solid/Echogenic Lung Mass 4-6
Cystic Lung Mass 4-10
Small Chest 4-14
..
en
Gl
THORACIC FLUID COLLECTION
,J;
U
DIFFERENTIAL DIAGNOSIS o Hydrops defined as fluid accumulation in
2 or more body cavities
Common • Pleural effusion
• Bilateral Pleural Effusion • Ascites
o Hydrothorax • Skin edema
• Unilateral Pleural Effusion • Pericardial fluid
o Chylothorax o Polyhydramnios and placentomegaly also
• Pericardial Effusion often present if there is hydrops
Less Common o Anomalies commonly associated with
• Effusions Associated with Lung Masses effusions/hydrops
o Bronchopulmonary Sequestration • Cystic hygroma (Turner syndrome) most
o Congential Cystic Adenomatoid common
Malformation (CCAM) • Trisomy 21 (other markers usually seen);
• Masses That Can Mimic Simple Fluid trisomy 18, 13 less likely
Collection • Cardiac defects
o Unilocular CCAM • Cardiac arrhythmia
o Congenital Diaphragmatic Hernia • Infection
• Cystic adenomatoid malformation «
10% have hydrops)
ESSENTIAL INFORMATION o Fetal masses causing high output failure
Key Differential Diagnosis Issues (and possible hydrops)
• First determine where the fluid is located • Sacrococcygeal teratoma
o Pleural space, pericardial space or within a • Goiter
mass • Vascular shunting: Vein of Galen
• Pleural effusion malformation, arteriovenous fistulas,
o Routine four chamber heart view hepatic hemangioendothelioma,
• Curvilinear, anechoic fluid placental chorioangioma
• Echogenic lung displaced medially o First trimester pleural effusion
o Coronal chest view • Can be seen as early as 7 weeks
• Lung displaced superiorly and medially • Associated with increased nuchal
• "Wing-like" lungs float in fluid translucency
• Pericardial effusion • Poor prognosis when present before 15
o Fluid collection surrounds fetal heart wks
o If large, heart is seen beating in a "bag of • Aneuploidy common: Turner syndrome
water" most likely
o Lungs will be compressed posteriorly, not • Chylothorax
free floating o Chylous fluid collection
• Large, unilocular cystic masses may simulate o Effusion is unilateral
pleural effusion o Primary congenital lymphatic defect
o Masses are rounded or ovoid • Atresia, fistula, or absence of thoracic
o Have mass effect on lungs and mediastinal duct
structures o Thoracic duct crosses from right to left at
• Lung shifted away from fluid, not 5th thoracic level
surrounded by fluid as in a pleural • Level of obstruction determines right
effusion versus left-sided effusion
• Equal incidence of right and left-sided
Helpful Clues for Common Diagnoses effusions
• Hydrothorax o Fluid is anechoic
o Serous fluid collection
• Only after neonatal feeding will chylous
o Effusions are bilateral and symmetric
fluid appear "milky"
o Hallmark finding in hydrops fetalis (both o Mass effect common
immune and nonimmune)
4
2
THORACIC FLUID COLLECTION (")
;z
• Mediastinal shift
• Flattened diaphragm
-
lD
III
• Bronchopulmonary Sequestration
o May lead to hydrops when large
06-10% may develop unilateral pleural
• Consider performing fetal thoracentesis effusion
if evidence of fetal compromise o May cause tension hydrothorax requiring
o 5% associated with aneuploidy fetal thoracentesis to decompress
• Turner syndrome 090% left-sided
• Trisomy 21 o Look for triangular, solid mass surrounded
• Noonan syndrome by pleural fluid
o Amniocentesis warranted • Congenital Cystic Adenomatoid
o 15% resolve in fetal life
Malformation (CCAM)
o Near 100% survival without hydrops and
o May see effusions if fetus develops hydrops
normal chromosomes • Occurs in < 10% of cases
• Pericardial Effusion o Unilocular CCAM can appear as a simple
o Seen best on standard four chamber view
fluid collection
o Lenticular or oval collection of fluid
• Look for stomach below diaphragm to
adjacent to, or surrounding heart rule out congenital diaphragmatic hernia
o Trace of fluid along one ventricular wall is
• Congenital Diaphragmatic Hernia
normal o Appears as simple fluid collection if only
• Can be up to 2 mm stomach is herniated
• Majority of fetuses (50-80%) have trace • In isolated gastric herniation, stomach
fluid if careful search done generally located posteriorly in chest
• Generally transient (herniation through foramen of
• If fetus not at increased risk, follow-up Bochdalek)
not necessary o Look carefully for small bowel and liver,
o Significant effusion if fluid surrounds atria which are often present but difficult to
as well as ventricles visualize
o Pericardia I effusion seen in many
• Use color Doppler and consider fetal MR
conditions
• Evaluate heart for structural abnormality,
arrhythmia or mass
• Look for other signs of hydrops
• Look for signs of congenital infection
• Look for anemia
Hydrothorax Hydrothorax
Axial ultrasound in a fetus with immune hydrops shows

=
Coronal oblique ultrasound in a fetus with non-immune
4
bilateral effusions and marked skin edema 1m. The
lungs are displaced medially, "hugging" the heart. typical "winged" appearance of floaring lungs =-
hydrops (fetus had Smith-Lemli-OpilZ syndrome) shows
3
-
J::
o
1Il
GI
THORACIC FLUID COLLECTION
Hydrothorax Hydrothorax
typical appearance of Turner
syndrome presenting with a
large cystic hygroma and
cystic hygroma =
hydrops. A large nuchal
mimics
amniotic fluid and contains
septations Ei!l (Right)
Coronal ultrasound in the
=-=
same case shows body wall
edema
effusions
bilateral pleural
and ascites Ei!l
diagnostic of associated
hydrops fetalis.
Hydrothorax Chylothorax
shows the right hemithorax
in a fetus with
supraventricular tachycardia
and pleural effusions. Fluid
can actually be seen tracking
in the major fissure •.
pleural effusion =
shows a small isolated
otherwise normal fetus

in an
(stomach ilia). A follow-up

study performed 2 weeks
later showed complete
resolution of the effusion.
Chylothorax Pericardial Effusion

shows typical features of a
=-
large, unilateral chylothorax
It is compressing the
right lung E!lI and deviating
the heart. Skin edema is also
present lB. (Right) Four
chamber view of the heart
shows a small, localized
pericardial effusion
(calipers), which resolved on
follow-up studies.
4
4
THORACIC FLUID COLLECTION n
J
-
CD
III
Pericardial Effusion Pericardial Effusion

(Leh) Four chamber view in
a fetus with a
cytomegalovirus infection
shows cardiomegaly with a
pericardia Ieffusion !Ill. Note
the lungs III are compressed
posteriorly and are not
floating in the fluid, as would
be seen with pleural
effusions. (Right) Axial T2WI
MR shows a large
intrapericardialteratoma
and pericardial effusion ffi
Note how the lungs ~ are
compressed posteriorly by
this large effusion.
Congential Cystic Adenomatoid

Bronchopulmonary Sequestration Malformation (CCAM)
a unilateral pleural effusion
surrounding a triangular
mass III at the left lung base.
The heart !Ill is shifted to the
right. Sequestrations can
cause a tension hydrothorax
requiring in utero drainage.
shows small bilateral pleural
effusions III in a fetus with a
CCAM III who was
developing hydrops.
Effusions are not common in
CCAM, unlike in
sequestrations, unless they
are part of generalized
hydrops.
Unilocular CCAM
a large, unilocular cyst III in
the fetal chest deviating the
heart lID to the right. The
stomach was in the normal
position, making a unilocular
CCAM the most likely
diagnosis. (Right) Axial
ultrasound shows a
posteriorly located,
unilocular cyst !Ill in the
chest, displacing the heart
Ell to the right. No stomach
bubble was seen in the
abdomen. The stomach had
herniated through the
foramen of Bochdalek.
4
5
-
III
Gl
~
o
SOLID/ECHOGENIC LUNG MASS
DIFFERENTIAL DIAGNOSIS o Unilateral pleural effusion suggests

-=--_-1 sequestration
Common o Bilateral effusions as part of generalized
• Congenital Cystic Adenomatoid hydrops
Malformation, Microcystic • Most common with CCAM
• Bronchopulmonary Sequestration • "Disappearing" lung mass
• Congenital Diaphragmatic Hernia o Common in both CCAM and
Less Common sequestration
• Teratoma, Pericardial Helpful Clues for Common Diagnoses
• Teratoma, Chest • Congenital Cystic Adenomatoid
• Congenital Lobar Emphysema Malformation, Microcystic
Rare but Important o Morphology varies from solid appearing
• Tracheal Atresia (microcystic) to complex cystic mass
(macrocystic) or even unilocular
o Microcystic CCAM appear as solid lesions
ESSENTIAL INFORMATION • Cysts < 5 mm
---
Key Differential Diagnosis Issues • Uniformlyechogenic
• Doppler is key for diagnosing solid chest • Well-defined masses
mass • 95% are unilateral and affect only 1 lobe
o Congenital cystic adenomatoid • No side predilection
malformation (CCAM) has vascular supply • May see small, scattered macroscopic
(both arterial and venous) from pulmonary cysts
circulation o Color Doppler
o Sequestration has prominent feeding vessel • Vascular supply from pulmonary artery
from aorta • Venous drainage to pulmonary vein
• Generally drains into systemic (more difficult to see)
circulation (inferior vena cava, azygous) o Greatest growth 20-26 weeks
o Diaphragmatic hernia containing liver will • May regress and even "disappear" later in
show portal/hepatic veins pregnancy
o Other masses may show flow but usually o May be complicated by hydrops « 10%)
no dominant feeding vessel • Near 100% mortality with hydrops if
• Where is the lesion? untreated
o Right side favors CCAM • Bronchopulmonary Sequestration
o Left side could be either CCAM or o Uniformly echogenic, well-marginated,
sequestration triangular-shaped mass
o Bilateral o 90% left-sided, 90% supradiaphragmatic
• Tracheal atresia: Look for massive chest o Color Doppler
enlargement, fluid-filled trachea/bronchi • Prominent feeding vessel from aorta
• Bilateral CCAM (may have more than one)
• Bilateral congenital diaphragmatic • Venous drainage to inferior vena cava or
hernia: Stomach with cause cystic mass azygous (often difficult to see)
on left side o Unilateral pleural effusion in 6-10%
• Is the mass surrounded by fluid? • May cause tension hydrothorax
o Pericardial vs. pleural effusion • Congenital Diaphragmatic Hernia
• May be confusing if large o Right-sided hernia more likely to present
• Pericardial effusion: Lungs compressed as solid mass because stomach remains
posteriorly below diaphragm
• Pleural effusion: Lungs float in fluid and • Stomach may be more medially located
appear "wing-like" than usual
o Pericardial effusion common with o Contents of hernia vary in echogenicity
pericardial teratomas
4
6
SOLID/ECHOGENIC LUNG MASS n
:r
..•
11l
III
• Liver more hypoechoic, bowel more o Calcifications most specific feature but not
hyperechoic always present
o Liver may be difficult to differentiate from o Can grow extremely rapidly
lung • Congenital Lobar Emphysema
• Use Doppler to look for hepatic/portal o Uniformly echogenic
veins o More commonly upper lobe (L > R)
• Fetal MR best tool to evaluate contents of o Rare to diagnosis in utero
hernia o Generally present in neonatal period with
• "Liver up" has worse prognosis air trapping
o Bilateral hernias may be difficult to Helpful Clues for Rare Diagnoses
diagnose • Tracheal Atresia
• Abnormal cardiac axis may be only clue; o Symmetric, bilateral lung enlargement
apex will be more midline o Chest circumference enlarged
• Abdominal circumference will measure o Inversion of diaphragm
less than expected o Fluid-filled trachea and bronchi
o Pulmonary hypoplasia worse for CDH than o Heart appears midline and compressed
other chest masses of comparable size
o Up to 50% have an associated
abnormality, including chromosomal • Postnatal workup should be done in all cases
even if mass has "disappeared" in utero
Helpful Clues for Less Common Diagnoses o Mass not truly gone, just regressed to a
• Teratoma, Pericardia I point that it is not discernible by routine
o May be either intrapericardial or scanning
extrapericardial o Perform postnatal contrast-enhanced CT
o Intrapericardial masses invariably will have
orMR
pericardial effusion • Chest X-ray may not show lesion
• May be massive and mistaken for pleural o Postnatal resection somewhat
effusion controversial in asymptomatic individuals
• At risk for cardiac tamponade • Most feel risk of infection and
• Teratoma, Chest malignancy warrants resection in all
o Typically originate from anterior cases
mediastinum and can cross midline
o May contain both solid and cystic
components
Congenital Cystic Adenomatoid Congenital Cystic Adenomatoid

Malformation, Microcystic Malformation, Microcystic
example 01 a large microcyslic CCAM =
ultrasound shows a typical
at 22 weeks
Coronal ultrasound shows this lesion is causing
significant mediastinal shilt 1JIl2. This mass gradually
4
gestation. Several small macrocysts I!Ilm are seen in the decreased in size. The newborn was stable at delivery
periphery. There were no signs 01 hydrops. and had an elective resection at 2 months of age. 7
-
.l:
o
1Il
Gl
SOLID/ECHOGENIC LUNG MASS
Congenital Cystic Adenomatoid

Malformation, Microcystic Bronchopulmonary Sequestration
(Left) Coronal view of the
fetal chest shows a large
mass in the left hemithorax
•. Color Doppler shows
vascular connections with
the pulmonary circulation
(Doppler cursor). This is
typical for a CCAM. (Right)
Coronal power Doppler
ultrasound of the fetal chest
shows a large feeding artery
arising from the aorta 11II
supplying a wedge-shaped,
echogenic lung mass •.
This is classic for a
sequestration. Doppler is
essential for differentiating
CCAMs from sequestrations.
Bronchopulmonary Sequestration Bronchopulmonary Sequestration

shows a well-defined,
triangular, echogenic mass
= at the left lung base. The
heart was displaced to the
right. (Right) Axial color
Doppler ultrasound in the
same case shows a large
feeding vessel r=arising
from the aorta EllI. The fetus
did well, and the
sequestration was resected
after delivery.
Congenital Diaphragmatic Hernia

through the fetal chest shows
a large, solid, right-sided
chest mass" The heart 11II
is being shifted to the left.
(Right) Axial color Doppler
vein =
shows flow within a hepatic
in this right-sided
COHo Liver;s more
hypoechoic than would be
typical for either a CCAM or
sequestration.
4
8
SOLIO/ECHOCENIC LUNC MASS o
::r
CD
III
••
Teratoma, Pericardial Teratoma, Pericardial

(Left) Axial cola, Doppler
inlrapericardialleratoma II
adjacent 10 the heart Hilt is
=
surrounded by a massive

deviation of the aorla =
but the mass i15elf had little
flow and no feeding vessel
could be identified. This
helps differentiate a teralOma
from a sequestration or
CCAM.
Teratoma, Chest Teratoma, Chest

shows a large, solid mass =:I
within the left hemithO/ax
displacing the aorta EB to
the right. Calcifications were
seen on other views. This
fetus had a normal scan 6
weeks earlier. (Right)
Coronal T1 WI MR after
delivery likewise shows
displacement of the aorta IIll
by the mass. The mass has
grown through the
diaphragm =:IinlO the upper
abdomen. An immature
teratoma was found at
autopsy. Teratomas can have
extremely rapid growth rates.
Tracheal Atresia Tracheal Atresia

(Left) Axial ultrasound
through the fetal chest shows
markedly enlarged,
hyperechoic lungs. The
bronchi" are fluid-filled.
The heart IIll is shifted 10 the
midline and appears small,
almost completely obscured
by shadowing from the
vertebral body. Massive
bilateral lung enlargement is
typical fO/ tracheal atresia.
(Right) Sagillal ultrasound
shows fluid-filled bronchi III
well out inlO the periphery of
the lung. Also note that the
diaph,agm BI is inverted.
4
9
CYSTIC LUNG MASS
DIFFERENTIAL DIAGNOSIS o Abdominal circumference less than

expected
Common
o Most hernias are posterior through
• Congenital Diaphragmatic Hernia foramen of Bochdalek
• Congenital Cystic Adenomatoid • Must evaluate diaphragm in sagittal
Malformation, Macrocystic plane
Less Common • Anterior coronal plane can completely
• Lymphangioma miss diaphragmatic defect
• Bronchogenic Cyst o Look carefully for other anomalies
• Neurenteric Cyst including chromosomal
• Up to 50% will have an associate
abnormality
ESSENTIAL INFORMATION o Color Doppler helpful to look for
Key Differential Diagnosis Issues portal/hepatic veins in herniated liver
• Where is the stomach? • Even with Doppler, it may be difficult to
o lf it is below the diaphragm, a congenital see liver if only a small portion of the left
diaphragmatic hernia (CDH) is less likely lobe is herniated
• CDH without gastric herniation (small o MR extremely valuable for determining
bowel, liver) generally appears as solid or contents of hernia
echogenic mass • Meconium-filled bowel is bright on
• Simple cyst vs. complex cystic mass TlWl
o Bronchogenic cyst and neurenteric cyst • Fluid-filled bowel is bright on T2WI
more likely to be single simple cysts • Liver is dark on T2WI
o CDH, macrocystic congenital cystic • Normal lung intermediate signal on
adenomatoid malformation (CCAM), and T2WI
lymphangioma are generally large complex • Congenital Cystic Adenomatoid
masses Malformation, Macrocystic
• Does the mass extend beyond the chest o Lung hamartoma with proliferation of
wall? terminal bronchioles and lack of normal
o Lymphangioma has bulk of mass in alveoli
subcutaneous tissues, not in chest cavity o Morphology varies from solid appearing
• Always evaluate spine (microcystic) to complex cystic mass
o Neurenteric cysts often associated with (macrocystic) or even unilocular
thoracic boney abnormality o Macrocystic congenital cystic adenomatoid
malformation (CCAM)
• 1 or more cysts> 5 mm
• Often multiple cysts of varying sizes
o Left-sided hernias most common (80-90%)
• May have single large cyst
o Stomach causes cystic mass in chest
• Borders poorly defined
o Four classic findings of left-sided hernia
o Both arterial supply and venous drainage
• Cystic mass in left side of chest from pulmonary circulation
• Absence of fluid-filled stomach in o Stomach is below diaphragm
abdomen
o Abdominal circumference is normal
• Deviation of heart toward right o 95% unilateral and affect only 1 lobe
• Polyhydramnios o No predilection for side (R = L)
o Small bowel and liver are often also
herniated but harder to see Helpful Clues for Less Common Diagnoses
• Very important to determine contents of • Lymphangioma
hernia o Complex cystic body wall mass
• Those with "liver up" have poorer • Sonolucent cysts
prognosis • Septa of variable thicknesses
• No solid components
4
10
CYSTIC LUNG MASS o
::T
• May enlarge during pregnancy

• Associated anomalies rare
o Vertebral anomalies (both segmentation
and fusion) in up to 50%
-
CD
III
o Mediastinal involvement common but • Butterfly vertebrae

bulk of the mass will be outside thoracic • Hemivertebrae
cavity • Vertebral clefts
o Can be located anywhere in soft tissues • Diastematomyelia
• 70% are axillary o Etiology thought to be incomplete
• 30% involve trunk or limbs separation of notochord layer from
o Axillary masses typically between arm and endoderm (primitive foregut)
chest wall • Small piece of primitive gut becomes
• Arm held away from fetal trunk trapped in developing spinal canal
• May extend down arm Other Essential Information
• Secondary lymphedema common • Consider fetal MR
• Rib deformity common o Especially important for evaluating
• Associated pleural effusion rare contents of CDH
• Bronchogenic Cyst • MR excellent to look for herniated liver
o Smooth, unilocular cyst o Evaluate mediastinal invasion of
o Most commonly mediastinal but may be
lymphangioma
in lung parenchyma
o Look for intraspinal extension of
o Mediastinal cysts
neurenteric cyst
• Majority in middle mediastinum
typically paratracheal, carinal, or hilar Alternative Differential Approaches
o Pulmonary • Simple cyst
• Majority in medial third of lungs o Bronchogenic cyst
• More frequent in lower lobes o Neurenteric cyst
• Equal incidence in both lungs (R = L) o CDH with only stomach herniated
• Neurenteric Cyst oCCAM with only one cyst
o Single, smooth, unilocular cyst • Complex cystic mass
o Round to dumbbell shape o Congenital diaphragmatic hernia
• Dumbbell shape suggests extension into o Cystic adenomatoid malformation
spinal canal o Lymphangioma
o Located midline by spine
• Thoracic spine most common site,
followed by cervical spine
Axial ultrasound shows the stomach =- bowel and Coronal T2WI MR shows the heart IlI!.l shifted to the
4
liver E!lI in the letal chest. The heart IlI!.l is shilted into
the right hemithorax. liver=
right. MR clearly shows herniation 01 the lelt lobe 01 the
(stomach 61). This was not seen at US and is
important as it confers a worse prognosis.
11
-rn
Gl
.c
(.)
CYSTIC LUNG MASS

the heart Ea shifted into the
right hemithorax. The
stomach !lll:I is in the chest.
the abdomen shows no
stomach bubble, confirming
the cystic structure within
the chest, was indeed, the
stomach. The abdominal
circumference measured less
than expected, which is
typical, especially when the
CDH is large.

Malformation, Macrocystic Malformation, Macrocystic
the heart Ea deviated to the
right by a complex
echogenic mass with
scattered cysts. The right
lung !lll:I is compressed.
Doppler interrogation of the
mass showed pulmonary
arterial supply and venous
drainage. (Right) Sagittal
shows the mass filling the left
hemithorax with larger cysts
in the upper lobe Ill. It is
common to have both
macrocyslic and microcystic
areas within a CCAM.

Malformation, Macrocystic Malformation, Macrocystic
shows the stomach III
clearly below the diaphragm
~ which is intact. There
are two large cystsla8 in the
left hemithorax. (Right)
Radiograph after delivery
shows these cysts are now
filled with air Ia8. There is
mass-effect with shift of the
heart to the right. Note the
stomach ~ is below the
diaphragm.
4
12
CYSTIC LUNG MASS o
~
lD
III
••

bilateral, large, complex,
multiloculated chest wall
masses =. Thin and thick
seplations are seen
throughout. (Right) Postnatal
chest radiograph shows the
arms extending away from
the trunk and lateral rib
deformity ~ secondary to in
utero mass effect
lymphangioma lymphangioma
(Left) Axial color Doppler
ultrasound shows an
avascular, cystic, chest wall
mass. (Right) Coronal T2WI
MR after delivery shows
multiple locules of varying
signal intensity. The mass
extended from the axilla to
the pelvis. Lymphangiomas
may extend into the pleural
space, mediastinum or
abdomen but the bulk of the
mass is generally
subcutaneous.
Bronchogenic Cyst
shows a small, simple,
midline cyst" near the
right lung base. Note that the
diaphragm is intact ED (aorta
!llDi. (Right) Axial CECTafter
delivery shows a simple,
fluid-density cyst _ Note
the adjacent vertebral body
is normal making neurenteric
cyst less likely. Resection
confirmed a bronchogenic
cyst.
4
13
..
III
CD
SMALL CHEST
.c
U
DIFFERENTIAL DIAGNOSIS • Autosomal Recessive Polycystic Kidney
Disease, Severe
Common o Large, echogenic kidneys
• Severe Oligohydramnios o Abdominal circumference often enlarged
o Renal Agenesis o Amount of amniotic fluid varies according
o Autosomal Recessive Polycystic Kidney to severity of renal disease
Disease, Severe • Bilateral Multicystic Dysplastic Kidneys
o Bilateral Multicystic Dysplastic Kidneys o Non-functioning kidneys filled with
o Posterior Urethral Valves, Complete multiple cysts of varying size
o Severe Intrauterine Growth Restriction o Absent bladder
(IUGR) • Posterior Urethral Valves, Complete
Less Common o Grossly distended bladder in male fetus
• Skeletal Dysplasias o Look for "keyhole" appearance of dilated

o Thanatophoric Dysplasia (TD) posterior urethra
o Osteogenesis lmperfecta (01) o May have associated hydronephrosis
o Achondroplasia • Severe Intrauterine Growth Restriction

o Achondrogenesis (IUGR)
o Asphyxiating Thoracic Dysplasia Oeune o Asymmetric IUGR: Abdomen and chest are
Syndrome) small, with "sparing" of head growth

o Short Rib-Polydactyly o Often associated with oligohydramnios
o Early onset asymmetric IUGR very
concerning for triploidy
ESSENTIAL INFORMATION
Key Differential Diagnosis Issues • Thanatophoric Dysplasia (TD)
• Is the chest truly small? o Divided into 2 subtypes based on
o Large heart or distended abdomen may morphologic findings
create appearance of a small chest o Chest findings are similar in both types
• Anything that causes severe • Thorax is small and narrow with short
oligohydramnios can result in a small chest horizontal ribs ,
and pulmonary hypoplasia • Ossification is normal
o Fetal compression causes decreased space • No rib fractures
for lung growth and restriction of • Pulmonary hypoplasia
breathing movements o TD type I
o Efflux of lung fluid into amniotic space • "Telephone receiver" femur
• Fetal lung fluid functions as a stent • All long bones severely affected
keeping developing air spaces distended (micromelia) with bowing
• Vital for normal lung development • Platyspondyly
• Many skeletal dysplasias have a small • Prominent lumbar kyphosis
thoracic cavity • Trident-shaped hands (short fingers,
o Must look at multiple factors in order to appear same length; gap between 3rd
make appropriate diagnosis and 4th fingers)
• Which long bones are effected and how o TD type II
severely? • Kleeblattschadel ("cloverleaf") skull
• Is ossification normal or decreased? • Femurs longer, less curved
• Are there rib/long bone fractures or • Platyspondyly less marked
bowing? • Osteogenesis Imperfecta (01)
Helpful Clues for Common Diagnoses o Presence of fractures distinguishes 01 from
• Renal Agenesis other skeletal dysplasias (except

o Absent kidneys and bladder achondrogenesis type lA)
o Anhydramnios o Multiple different types based on
phenotype
4
14
SMAll CHEST o
~
• Type II is most severe form and most

likely to be diagnosed in utero
• Multiple rib fractures
• Poorly ossified skull
-
CD
Ul
• Type II is perinatal lethal o Type 1B

o Chest is small with "beaded" ribs (result of • No rib fractures
multiple rib fractures) • Poorly ossified skull
o Long bone shortening/angulation o Type II
secondary to fractures • No rib fractures
o Callus formation gives bones a "crumpled" • Normal skull ossification
appearance • Asphyxiating Thoracic Dysplasia Oeune
o Decreased mineralization Syndrome)
• Brain "too well seen" o Characterized by a severely constricted,
• Skull deformation from transducer long, narrow thorax
pressure ("soft" bones) o Cystic kidneys
• Achondroplasia o Normal ossification
o Most common heritable, non-lethal o Polydactyly in 15%
skeletal dysplasia o Limbs shortened but may not be as
o Chest usually has mild "bell-shaped" profound as in other conditions
appearance • Short Rib-Polydactyly
• Much less severe than other dysplasias o Characterized by severe micromelia, short
o Early scans usually normal horizontal ribs, polydactyly, visceral
o Rhizomelia (proximal limb shortening) anomalies
noted after 22 weeks o Visceral anomalies include cardiac,
o Normal ossification without fractures urogenital and central nervous system
o No bowing or angulation seen prenatally Alternative Differential Approaches
o Progressive macrocephaly with frontal • Decreased ossification with beaded ribs
bossing o Osteogenesis imperfecta
o Prominent thoracolumbar kyphosis o Achondroplasia type la
o Trident hands
• Absent spine ossification
• Achondrogenesis o Achondrogenesis (all types)
o Group of lethal disorders with severe
• Small chest and polydactyly
micromelia, unossified spine, short trunk o Short rib-polydactyly
and disproportionately large head o Asphyxiating thoracic dysplasia
o Chest findings vary with type
o Type 1A
Autosomal Recessive Polycystic Kidney

Renal Agenesis Disease, Severe
=-
Coronal ultrasound of a fetus with renal agenesis shows
a very small bell-shaped chest There is complete
Coronal postmortem T2WI MR shows a tiny thoracic
cavity ED. The kidneys IllEI are massively enlarged with
4
anhydramnios. no normal remaining parenchyma.
15
-III
Gl
.c
o
SMALL CHEST
Posterior Urethral Valves, Complete

fetal abdomen shows
bilateral, enlarged, cystic
kidneys =:I. As multicystic
dysplastic kidneys are
non functioning, there is no
amniotic fluid &
consequently normal lung
development cannot occur.
shows a dramatically
distended bladder EEl in a 15
week male fetus. Note the
small chest =:I and severe
oligohydramnios.
Severe Intrauterine Growth Restriction

(IUGR)
a fetus from a dichorionic
twin gestation. The fetal
chest and abdomen =:I are
significantly smaller than the
head EEl. Amniocentesis
showed triploidy. The other
twin was normal. (Right)
Postmortem radiograph
shows normal ossification
with dramatically shortened
and bowed humeri EEl. Note
the platyspondyly with
"H-shaped" vertebrae ffi
Platyspondyly can be
difficult to appreciate on
ultrasound.
Thanatophoric Dysplasia (TD)

(Leh) Coronal oblique
ultrasound of the fetal thorax
shows short straight ribs 1:1
which do not go around the
chest. The ossification is
normal, and there are no rib
fractures. (Right) Axial
ultrasound of the fetal head
in the same case shows the
classic kleeblattschadel or
"cloverleaf" skull
configuration ~ typical for
TO type If.
4
16
SMAll CHEST o
~
-
C1l
(II
Osteogenesis Imperfecta (01) Osteogenesis Imperfecta (01)

ultrasound focused on the
ribs shows they have a wavy,
"beaded" appearance_
This is the result of fractures
with callus formation. (Right)
Axial ultrasound of the fetal
head in the same case shows
flattening of skull III from
the transducer pressure.
Because the skull is poorly
mineralized, there is little
reverberation artifact,
resulting in the brain being
"too well seen".
Osteogenesis Imperfecta (01)

(Leh) Frontal radiograph
shows a typical case of 01
type 2 in a fetus with
innumerable rib, vertebral, &
long bone fractures. Arms &
legs are short due to
angulation & deformity
resulting from the fractures.
These fractures give the
bones a "crumpled"
appearance. (Right)
Specimen radiograph of a
fetal thoracic cavity. in a
different case, shows
innumerable rib fractures
creating a "beaded"
appearance.
Achondroplasia Achondroplasia
=
shows a slightly small chest
with a protuberant
abdomen _ This is much
less pronounced than in
other skeletal dysplasias.
(Right) Axial head ultrasound
in the same fetus shows
normal ossification of the
skull, with reverberation
artifact in the near field. The
fetus was 33.2 weeks, but
the head size measured 36.5
weeks. Macrocephaly with
frontal bossing is a common
3rd trimester finding in
achondroplasia.
4
17
-III
QI
.J:.
(.)
SMALL CHEST
Achondroplasia Achondrogenesis
(Leh) Lateral radiograph
shows the calvarial shape of
an infant with
achondroplasia. The bone is
well ossified. Note
prominent frontal bossing lIIlI
and depressed nasal bridge
In (Right) Sagittal
ultrasound shows a small
chest in relation to the
abdomen, but the key
finding is the complete lack
of vertebral body ossification
lIIlI.
focused on the ribs lIIlI of the
same fetus shows they are
very short and "beaded", the
result of rib fractures. (Right)
shows the calvarium is
deformed by transducer
pressure lIIlI. These findings
are characteristic of
achondrogenesis type I A,
which was confirmed at
autopsy.
(Left) Radiograph of a fetus
with achondrogenesis type
IA shows poor skull
ossification= and thin,
wavy ribs secondary to
multiple fractures •. Note
the lack of vertebral body
ossification. (Right)
Radiograph shows a
well-ossified calvarium III
with lack of spine ossification
in type II achondrogenesis.
Note the absence of rib
fractures lillI.
4
18
SMALL CHEST o
~
-
ClI
Ul
Asphyxiating Thoracic Dysplasia Oeune Asphyxiating Thoracic Dysplasia (Jeune

Syndrome) Syndrome)
chest =
shows a markedly small
when compared !O
the fetal abdomen E!ll Note
the chest has a more
elongated shape than
typically seen in other
dysplasias. (Right) Axial
shows the ribs =
short and horizontal.
are very
Asphyxiating Thoracic Dysplasia Oeune Asphyxiating Thoracic Dysplasia (Jeune

Syndrome) Syndrome)
(Left) Frontal radiograph
from the prior case shows a
very long and narrow
thoracic configuration typical
of jeune syndrome. Note
that ossification is normal.
(Right) Lateral radiograph
shows how "sunken r, the
chest appears in relation to
the abdomen. Note the
extreme rib shortening ffi
(Leh) Ultrasound of the hand

shows pas/axial polydactyly,
with six fingers= and a
thumb Ea. 80th pre- and
postaxial polydactyly have
been described with short
rib-polydactyly syndrome.
(Right) Lateral radiograph
shows severely shortened
ribs but normal
ossification. Multiple other
anomalies may be present
including cardiac, urogenital,
and central nervous system.
4
19
SEC~ION 5
f:ardiae
Abnormal Cardiac Axis 5-2
Chamber Asymmetry 5-8
Cardiomegaly 5-12
Septal Defect 5-16
Abnormal Outflow Tracts 5-20
Abnormal Rate or Rhythm 5-24
Cardiac Mass 5-26
u ABNORMAL CARDIAC AXIS
.!!!
"E
"'
o DIFFERENTIAL DIAGNOSIS o Is the internal cardiac structure normal?
• Normal right and left atria
Common • Normal right and left ventricles
• Chest Mass • Normal outflow tracts crossing as they
o Congenital Diaphragmatic Hernia exit the heart
o Cystic Adenomatoid Malformation • Atrioventricular concordance
o Bronchopulmonary Sequestration • Ventriculoarterial concordance
o Pleural Effusion
o Teratoma Helpful Clues for Common Diagnoses
• Cardiac • Congenital Diaphragmatic Hernia
o Chamber Asymmetry o Stomach/intestine ± liver in chest
o Conotruncal Malformation o Heart displaced away from side of hernia
o Heterotaxy, Cardiosplenic Syndromes • In bilateral hernias, there may be

minimal cardiac shift
Less Common o Look for peristalsis within chest
• Pulmonary Agenesis o Look for "bucket handle" motion of
Rare but Important diaphragm on coronal view
• Ectopia Cordis o Strong association with aneuploidy
• Cystic Adenomatoid Malformation
o Chest mass with perfusion from
ESSENTIAL INFORMATION pulmonary artery branches
Key Differential Diagnosis Issues o May be uniformly echogenic to multicystic
• Important to have systematic approach depending on type
• In all OB scans check fetal orientation o Heart displaced away from mass
o Which is the fetal anatomic left and right? • Bronchopulmonary Sequestration
• Check position of stomach o Echogenic mass with perfusion from aorta
• Check position of cardiac apex o Usually on left, with cardiac shift to the
• Stomach and cardiac apex should both be right side
on the left • Pleural Effusion
o If both on right, likely complete situs o Large solitary effusion may displace heart
inversus with good prognosis o Look for floating lung
o If opposite sides, likely heterotaxy o Differentiate from pericardial effusion
syndrome • Surrounds heart, displaces lung
• Strong association with complex posteriorly
congenital heart disease • Teratoma
• Normal four chamber view is seen on an o Complex cystic/solid mass ± calcifications
axial image of the chest • Chamber Asymmetry
o Ribs should be symmetric and C-shaped o Which chamber is abnormal? Or is it a
• Normal cardiac axis is 35° to 45° single ventricle heart?
o Draw a line from spine to sternum o Right heart enlargement
o Draw a line along axis of intraventricular • Shunt lesions with increased venous
septum return
• If axis is abnormal • Incipient hydrops
o Does the heart appear displaced within the • Severe placental insufficiency
thorax? • Left heart outflow obstruction
• May be "pushed" to one side by a mass o Small right ventricle (RV)
• May be "pulled" to one side if lung small • Pulmonary atresia/stenosis (RV can also
or absent be normal)
o Ectopia cordis implies heart situated • Left dominant unbalanced
outside thorax atrioventricular septal defect (AVSD)
• Intra-abdominal o Small left ventricle (LV)
• Extrathoracic
5
2
C'l
ABNORMAL CARDIAC AXIS ..•
Dl
Q.
iii"
n
• Hypoplastic left heart syndrome (may Helpful Clues for Less Common Diagnoses
have poorly functioning echogenic LV in • Pulmonary Agenesis
aortic stenosis with endocardial o Heart displaced to chest wall on side of
fibroelastosis) missing lung
• Right dominant unbalanced AVSD o Diaphragm elevated but present on side of
o Large right atrium missing lung
• Ebstein anomaly/tricuspid dysplasia o No evidence of diaphragmatic hernia/lung
• Pulmonary stenosis/atresia mass "pushing" heart
• Conotruncal Malformation o Look for associated vertebral anomalies or
o Four chamber view often shows normal congenital heart disease
chambers o Look for other features of VACTERL
o Look at outflow tracts in every case
association
• Single outflow: Truncus most likely if
normal sized ventricles and VSD present Helpful Clues for Rare Diagnoses
• Parallel outflow tracts: Transposition of • Ectopia Cordis
the great arteries or double outlet right o Heart in abnormal location
o Look for amniotic bands if exterior to
ventricle
• Large aorta overriding VSD with separate, thorax
small PA: Tetralogy of Fallot o Pentalogy of Cantrell
• Heterotaxy, Cardiosplenic Syndromes • Anterior diaphragmatic hernia

o Check situs in every OB scan: Cardiac apex • Midline abdominal wall defect
and stomach should be on the left • Cardiac anomalies
o Look for interrupted inferior vena cava • Defect of diaphragmatic pericardium
with azygous continuation to the superior • Low sternal defect
vena cava Other Essential Information
• Vessel located posterior to the aorta at • Prognosis in heterotaxy syndromes depends
the level of the diaphragm on complexity of cardiac disease
o Look for transverse, midline liver o Association with complete heart block
o Complex congenital heart disease almost uniformly fatal
• Often AV septal defect • Prognosis in diaphragmatic hernia depends
• Often single ventricle on liver position and presence of cardiac
• Often abnormal outflow tracts defects
• Systemic and pulmonary venous o "Liver up" or complex cardiac anomaly
abnormalities confers worse prognosis
Axial ultrasound shows rhe stomach =:I behind rhe

heart • which is displaced to the right. Posterior
Axial T2WI MR shows bowel -=
and compressed lung
=:I (which could be mistaken for liver) in the left chest 5
displacement of the stomach suggests "liver up" COHo with rightward heart 61 displacement. Coronal views
which confers fXXJf prognosis. proved that the liver was not in the chest.
3
.!!!
(,)
ABNORMAL CARDIAC AXIS
'C
"-III
U
Cystic Adenomatoid Malformation

(Leh) Gross pathology shows
both small bowe/l!:ll and
Iiver!;8 in the chest The
heart =:I is displaced to the
right (Right) Axial
ultrasound shows a large,
echogenic mass with sma"~
scattered cysts consistent
with a congenital cystic
adenomalOid malformation.
There is marked
displacement of the heart HI
and compression of the
contralateral lung I!:ll.
Cystic Adenomatoid Malformation Cystic Adenomatoid Malformation

shows an echogenic CCAM
=:I displacing the heart I!:ll
to the left chest wall. (Right)
Coronal T2WI MR shows a
CCAM =:I occupying the
right upper lobe with
minimal mediastinal shift and
cardiac BI displacement to
the left
Cystic Adenomatoid Malformation

(Left) Sagittal oblique color
Doppler ultrasound shows a
large congenital cystic
adenomatoid malformation
=:I perfused by branches of
the pulmonary artery I!:ll.
(Right) Coronal color
the blood supply I!:ll to an
echogenic, non-cystic chest
mass arising from the aorta
Eil typical for sequestration.
5
4
ABNORMAL CARDIAC AXIS o
..•
III
a.
iii'
n
Bronchopulmonary Sequestration Pleural Effusion

(Left) Axial ultrasound in the
same case as the previous
image shows a well-defined,
echogenic mass =:Iat the
left lung base. The heart
is displaced to the right.
=
shows a huge, right-sided
chylothorax =:I compressing
the right lung HI and
deviating the heart =. Skin
edema is also present. Fetal
thoracentesis was performed,
but hydrops worsened
despite intervention.
Teratoma Chamber Asymmetry

(Left) Four chamber view
shows the heart =:I
displaced to the right chest
wall by a complex mass HI
arising in the left hemithorax
(5 = spine). Calcifications
were seen in other views.
(Right) Axial ultrasound in a
hydropic fetus with
hypoplastic left heart
syndrome shows a large
anterior right ventricle (RV)
and small left ventricle
due to mitral atresia =:I. The
=
axis (angle between lines
connecting asterisks and Xs)
is abnormal at almost 90
degrees.
Chamber Asymmetry
shows an abnormal axis
secondary to dramatic right
atrialenlargement. in a
fellls with Ebstein anomaly.
Note the inFerior
tricuspid leaflet =
displacement of the septal
causing
atrialization of the right
ventricle, the functional part
HI being very small. (Right)
Four chamber view in a fetus
with multiple anomalies
including pulmonary stenosis
shows that the right-sided
cardiac chambers 11:I are
farger than the left HI. Final
diagnosis was trisomy 18.
5
5
u ABNORMAL CARDIAC AXIS
.~
"C
•..
Cll
o
Conotruncal Malformation Conotruncal Malformation

ultrasound shows an
abnormal axis and right atrial
enlargement I!llIl with normal
placement 01 the tricuspid
valve leaflets 1:1. Additional
images demonstrated
pulmonary atresia. (Right)
RVOT ultrasound in a letus
with heterotaxy shows a
double outlet right ventricle
with parallel aorta (A) and
pulmonary artery (P) exiting
the right ventricle (RV). The
cardiac axis was abnormal.
Heterotaxy, Cardiosplenic Syndromes Heterotaxy, Cardiosplenic Syndromes

stomach 1:1 and cardiac
apex 11:I are on opposite
sides 01 the abdomen.
(Right) Four chamber view
in the same case shows an
abnormal axis with a small
to mitral atresia=.
lelt ventricle (LV) secondary
Lelt
atrium (LA), right ventricle
(RV).
Heterotaxy, Cardiosplenic Syndromes

(Leh) Four chamber view at
abnormal axis =.
16 weeks shows an
although
the apex ED is pointed lelt.
Final diagnosis was
left-dominant, unbalanced
and truncus arteriosus.
(Right) Gross pathology
shows dextrocardia and a
right-sided aortic arch in
a case of heterotaxy. There
was also asplenia, total
anomalous pulmonary
venous return, and bowel
malrotation.
5
6
ABNORMAL CARDIAC AXIS o
..•a.
III
iii'
n
Pulmonary Agenesis
the heart =
a normal right lung = with
touching the
left chest wall due to left
pulmonary agenesis. (Right)
case shows the right lung
and the "empty" left
=
=
hemithorax Ell with the heart
retracted. The fetus had
multiple other anomalies
including a large
encephalocele. The newborn
died within minutes of
delivery.
shows the heart =

through the fetal abdomen
within
the abdomen, protruding
through an abdominal wall
defect =. The complexity of
the vascular connections
precluded successful repair.
shows a different case of
abdominal ectopia cordis.
The heart ~ is seen beneath
the elevated and retracted
mass effect
of the liver.
=
diaphragm ~ Note the
on the dome
Ectopia Cordis Ectopia Cordis

(Leh) Four chamber view in
a fetus with amniotic band
syndrome shows the
extra thoracic location of the
heart" which is
surrounded by amniotic
fluid. Multiple other
anomalies including a large
facial cleft and exencephaly
were also seen. (Right) Axial
omphalocele Ell containing
liver, small bowel"
part of the stomach =-
and
Further images showed the

cardiac apex involved in the
defect consistent with
pentalogy of Cantrell.
5
7
(J
.!! CHAMBER ASYMMETRY
•..
'tI
CII
U o Right ventricle is large
• RV wraps around apex of LV
Common • Function is typically very good, even
• Hypoplastic Left Heart Syndrome (HLHS) hyperdynamic
• Tricuspid Atresia (TA) • Tricuspid Atresia (TA)
• Pulmonary Valve Atresia with Intact o Abnormal four chamber view
Ventricular Septum • Small, non-apex-forming right ventricle
• Tricuspid Dysplasia o Left ventricle is normal to large in size
• Ebstein Anomaly with good function
less Common o Tricuspid valve appears "plate-like" with no
• Atrioventricular Septal Defect (AVSD), movement
Unbalanced o Ventricular septal defect (VSD) usually
• Coarctation of the Aorta present to provide blood flow to great
artery arising from RV
o Size of great artery arising from RV
ESSENTIAL INFORMATION depends on size of VSD
Key Differential Diagnosis Issues • Larger VSD ..• bigger vessel
• Are there one or two ventricles? • Vessel may be pulmonary artery or aorta
o If only one, is it morphologically the right • Pulmonary Valve Atresia with Intact
or left ventricle? Ventricular Septum
o If two ventricles, do they both reach the o Four chamber view is abnormal
apex of the heart? • RV very hypertrophied and small
• Are there one or two atrioventricular (AV) o RV pressure is usually greater than
valves? systemic
o If only one AVvalve, is it the anterior o Tricuspid valve often hypoplastic
(tricuspid) or posterior (mitral) valve? o Look for abnormal coronary flow over RV
o Are the AVvalves normal in size? • Indicates presence of coronary sinusoids
o Are the valves located in the same plane or • Low velocity flow in small vessels
off-set? o Reversed flow in the ductus arteriosus
• Normally tricuspid insertion is more • Pulmonary artery fills retrograde from
apical than mitral aortic arch, not antegrade from right
o Is there AVvalve regurgitation? ventricle
• Are there one or two great arteries? o Ductus arteriosus is more vertically
o Are they normal in size? oriented than usual
o Does blood flow into both from the heart? • Tricuspid Dysplasia
o Is perfusion from the ductus? o Valve leaflets are in normal position
o Leaflets are thick, nodular, or irregular
Helpful Clues for Common Diagnoses o Severe tricuspid regurgitation (TR) ..• right
• Hypoplastic Left Heart Syndrome (HLHS) atrial enlargement
o Abnormal four chamber view with small,
o Often associated with pulmonary
non-apex-forming left ventricle (LV) stenosis/ atresia
• May see brightly echogenic LV o LV normal in size with good function
endocardium with endocardial
• Ebstein Anomaly
fibroelastosis o Apical displacement of septal and mural
• LVfunction is poor tricuspid valve leaflets with attachments to
o Inter-atrial septum bowed left to right as
ventricular septum
flow across foramen ovale is reversed o Anterior leaflet is often "sail-like"
• Little or no antegrade flow from LV so o "Atrialization" of the right ventricle
LA blood refluxes into RA • Significant right atrial enlargement
o Aortic valve often atretic and/or very small
• Functional RV is small
o Ascending aorta very small
o Variable degrees of TR
o Transverse arch very small
5
8
CHAMBER ASYMMETRY o
..•
QI
Q.
iii'
o Pulmonary artery is often small • Coarctation of the Aorta n
• Severe TR - lack of antegrade flow to RV o RV mildly enlarged compared to LV
o Transverse arch hypoplasia is best clue
o VSD with posterior deviation of the
• Atrioventricular Septal Defect (AVSD),
infundibular septum raises suspicion
Unbalanced
o Difficult prenatal diagnosis
o Missing "crux" of heart in four chamber
view Other Essential Information
• Inlet ventricular septal defect • HLHS, TA, and unbalanced AVSD
• Primum atrial septal defect o All considered single ventricles and require
o Single AV valve is committed more to one 3 stage surgical palliation
ventricle than the other o Outcomes for HLHS have improved in the
• Valve located in the same plane in a four short-term but remain poor for long-term
chamber view is a tip-off o Outcomes for TA are better than HLHS
• Normally tricuspid and mitral valves with survivors into their 40s and 50s
offset on interventricular septum o Outcomes for an unbalanced AVSD
o Ventricle lacking commitment will be depend on which ventricle is dominant
hypoplastic and associated anomalies
o Additional cardiac malformations are • Pulmonary atresia with intact ventricular
common septum can have a very poor prognosis
o Look for features of heterotaxy syndromes o Presence of coronary sinusoids may
• Situs abnormalities (e.g., dextrocardia, prevent decompressing RV with catheter
right-sided stomach) intervention
• Midline liver with central portal vein • Increases the risk of sudden death
bifurcation • Tricuspid valve dysplasia has a good
• Anomalous venous drainage especially prognosis
azygous continuation of inferior vena o Oxygen and the natural lowering of the
cava pulmonary vascular resistance often
o Look for signs of trisomy 21 decreases the TR significantly
• Thick nuchal fold, absent nasal bone o Surgery may not be necessary
• Duodenal atresia, echogenic bowel • Coarctation of the aorta has an excellent
• Short humerus, femur long-term outcome
• Pyelectasis o 85% of patients need no additional
• Sandal gap toes, clinodactyly intervention in their lifetime
Hypoplastic left Heart Syndrome

(HlHS) Tricuspid Atresia (TA)
Four chamber view echocardiogram shows an enlarged

right ventride (RV) wrapping around the apex of the
Four chamber view echocardiogram shows
"plate-like" tricuspid valve =::I with a normal mitral
a 5
hypoplastic left ventricle =::I. Note the echogenic valve and left ventricle (LV). The right ventricle E!llI is
endocardium. seen in endocardial fibroelastDsis. hypoplastic. and there is a VSD" Left atrium (tA). 9
u CHAMBER ASYMMETRY
.!!!
""-
III
o
Tricuspid Atresia (TA) Tricuspid Atresia (TA)

shows a hypoplastic right
ventricle lID with an atretic
tricuspid valve 81. The left
ventricle (LV) is mildly
dilated. Left atrium (IA).
echocardiogram in the same
case shows flow ~ from the
right atrium, across the atrial
septum to the left ventricle
• via the mitral valve.
Blood cannot enter the right
ventricle 81 due to tricuspid
atresia lIlltherefore all right
atrial blood crosses the
foramen ovale to the left
heart.
Pulmonary Valve Atresia with Intact

Tricuspid Atresia (TA) Ventricular Septum
(Left) LVOT view shows lhe
aorta Il!ll arising from the left
ventricle (LV). A VSD (*)
leads into the right ventricle
Bl which is hypoplastic due
to decreased inflow from
tricuspid atresia. (Right) Four
chamber view
echocardiogram on day of
life 1 shows a hypoplastic
right ventricle =
hypertrophied wall and
with
hypoplastic tricuspid valve

• in a patient with
pulmonary atresia. Left
atrium (IA), right atrium
(RA), left ventricle (LV).
Pulmonary Valve Atresia with Intact

Ventricular Septum
echocardiogram shows flow
in a coronary sinusoid =
with retrograde perfusion
from the right ventricle (RV)
into a main coronary artery
to the aorta (Ao). (Right)
Four chamber view
echocardiogram shows a
very dilated right atrium
(RA) due to a dysplastic
tricuspid valve =. Note the
failure of coaplation 01 the
leaflelS 81 in syslole. Right
ventricle (RV).
5
10
CHAMBER ASYMMETRY
..
o
III
C-
Di'
n
Ebstein Anomaly
color Doppler
echocardiogram shows
severe tricuspid regurgitation
•• in a patient with tricuspid
valve dysplasia on day of life
I. Right ventricle (RV).
(Right) Radiograph shows
the typical appearance of the
chest X-ray in a child with
Ebstein anomaly. This degree
of cardiomegaly is called a
"waif to wa"" heart and is
due to massive dilation of
the right atrium.
Ebstein Anomaly Ebstein Anomaly

ultrasound shows an Ebslein
anomaly with downward
tricuspid leaflet =.
displacement of the septal
resulting
in "alrializalion" of the right
ventricle HI and a dilated
right atrium (RA). Note the
large atrial septal defect Ill.
Left atrium (LA). (Right)
Color Doppler
echocardiogram in the same
case shows tricuspid
regurgitation =. This begins
well below the level of the
mitral valve HI due to the
typical tricuspid valve
position in Ebslein anomaly.
Atrioventricular Septal Defect (AVSD),

Unbalanced Coarctation of the Aorta
shows an unbalanced
with the left ventricle III
larger than the right ~
Note ventricular septal
defect III and lack of atrial
septum HI. (Right) Four
chamber view
echocardiogram shows the
right ventricle (RV) to be
much larger than the left
(LV). Subsequent images
revealed a small aorta and
transverse arch hypoplasia.
Coarctation of the aorta was
confirmed at birth.
5
11
u CARDIOMEGALY
.!!!
•..
'0
III
(J o Are the leaflets thickened/dysplastic?
• Cardiac • Ebstein Anomaly
o Ebstein Anomaly o Apical displacement of septal and posterior
o Tricuspid Dysplasia
mural tricuspid valve leaflets with
o Dilated Cardiomyopathy attachment to the ventricular septum
o "Atrialization" of the right ventricle -+ right
o Unbalanced Atrioventricular Septal Defect
o Tetralogy of Fallot with Absent Pulmonary
atrial enlargement
Valve • Anterior leaflet is often "sail-like"
• Non-Cardiac • TR may be severe
o Twin Related Heart Failure
o Pulmonary artery often small due to lack
• Twin-Twin Transfusion Syndrome of antegrade flow in setting of severe TR
• Twin Reversed Arterial Perfusion • Tricuspid Dysplasia
o Vascular Shunting o Thick, nodular, or irregular valve leaflets in
• Sacrococcygeal Teratoma normal position
o Severe TR results in right atrial dilation
• Chorioangioma
o Often associated pulmonary
• Vein of Galen Malformation
stenosis/atresia
• Dilated Cardiomyopathy
ESSENTIAL INFORMATION o No structural abnormality is present
o Poor myocardial contractility
o Myocardium often thin
• Cardiomegaly defined as heart
o Atrioventricular regurgitation
circumference> 50% of chest circumference
or cardiac area> 33% of chest area • Unbalanced Atrioventricular Septal Defect
o Missing "crux" of heart in four chamber
• Is it a singleton pregnancy or multiple
gestation? view
o Twin-twin transfusion syndrome (TTTS)
• Inlet ventricular septal defect
and twin reversed arterial perfusion (TRAP) • Primum atrial septal defect
o Single AVvalve is committed more to one
sequence only occur in monochorionic
twin pregnancies ventricle
o Ventricle lacking commitment will be
• TTTS: Two normal looking fetuses with
asymmetric size, fluid distribution hypoplastic
o Look for features of heterotaxy syndromes,
• TRAP: One normal, one very anomalous
fetus especially anomalous venous drainage
o Twin demise in monochorionic pregnancy • Tetralogy of Fallot with Absent
may result in ischemic cardiomyopathy in Pulmonary Valve
o Dilated aorta overriding a ventricular
the survivor
• Follow carefully after twin demise; may septal defect
o Back and forth flow across pulmonary
take 10-14 days to see full extent of
damage valve seen with color Doppler
o Markedly enlarged main and branch
• Any other of the causes can occur in a
singleton or in one of a dichorionic pair pulmonary arteries
• Is the fetus structurally normal? • Twin-Twin Transfusion Syndrome
o Recipient twin is the one at risk for
o Look for masses/arteriovenous
malformation developing cardiomegaly
o Monochorionic twins with asymmetric
• Is the intracardiac anatomy normal?
fluid distribution and growth
• Is the function normal?
o Donor shunts blood to recipient
• Are there one or two atrioventricular valves
in the heart? circulation -+ volume overload
• Is there tricuspid regurgitation (TR)? • Recipient: Polyhydramnios, larger size, ±
o Are the leaflets normally located?
abnormal Doppler, ± hydrops
5
12
CARDIOMEGALY
..
o
III
Co
iir
• Donor: Oligohydramnios, smaller size, ± o Variable vascularity C'l
absent bladder, ± abnormal Doppler • Large, highly vascular ones more likely
o Increased flow to the recipient twin causes to cause cardiomegaly and hydrops
high output failure o Fetal anemia may occur secondary to
• Biventricular hypertrophy hemolysis
• Tricuspid and mitral regurgitation • Monitor with middle cerebral artery peak
• Abnormal ductus venosus flow systolic velocity
• Twin Reversed Arterial Perfusion • Vein of Galen Malformation
o Pump twin is the one at risk for developing o Elongated midline cystic structure is
cardiomegaly dilated median prosencephalic vein
o Monochorionic twins o Doppler shows turbulent flow
• One normal "pump twin" o May see enlarged carotid arteries in neck
• One anomalous "acardiac" twin o High flow shunt - high output cardiac
o Flow in "acardiac" umbilical artery is failure
toward fetus o Look for associated ischemic
• Often lacks cranium/upper extremities encephalomalacia and hydrocephalus
• May have rudimentary or absent heart Other Essential Information
• Grossly edematous • Presence of hydrops confers poor prognosis
o Normal twin develops cardiomegaly and in all cases
failure from perfusing the abnormal twin, • Vein of Galen malformation is the most
which can reach enormous size common extracardiac cause of high-output
• Sacrococcygeal Teratoma congestive heart failure in newborn period
o Exophytic, mixed cystic/solid mass
• Twin-twin transfusion syndrome survival is
extending from sacrum improved with fetoscopic laser coagulation
• May contain calcifications in severe cases
o Polyhydramnios, placentomegaly • Survival of pump twin in TRAP sequence is
o Solid tumors may have significant
improved by radiofrequency ablation of
arteriovenous shunting anomalous twin's cord
• High output state - cardiomegaly - • Fetal intervention considered for impending
hydrops hydrops in sacrococcygeal teratoma
• Hydrops is very poor prognostic sign
• Chorioangioma
o Well-defined hypoechoic placental mass,
most often near cord insertion
Ebstein Anomaly Ebstein Anomaly
Four chamber view shows massive cardiomegaly

=. Four chamber view echocardiogram shows significant
5
resulting in a "wall to wall" hear!
This is mainly due
to right atria/ enlargement Ea. =.
downward displacement of the tricuspid septa/leaflet
The coaptadon point is very low in the ventricle,
resulting in a small functional right ventricle Ea.
13
o CARDIOMEGALY
.!!!
•..
"t:l
IV
o
Tricuspid Dysplasia Dilated Cardiomyopathy

(Leh) Four chamber view
thickened tricuspid valve HI
that silS in the normal
position. The right atrium
(RA) is mildly enlarged.
Right ventricle (RV), left
ventricle (LV). (Right) Long
axis echocardiogram shows a
significantly dilated right
ventricle (RV) with poor
contractility in real time. The
patient had positive genetic
testing for Barth syndrome,
an X-linked form of
cardiomyopathy that causes
a progressive dilated
cardiomyopathy in infancy.
Unbalanced Atrioventricular Septal Tetralogy of Fallot with Absent

Defect Pulmonary Valve
shows a common
atrioventricular valve HI
opening preferentially to the
right. The left ventricular
(LV) is hypoplastic compared
to the dilated right ventricle
(RV). The interventricular
septum !llll is also visible.
(Right) Echocardiogram
shows marked dilation of the
main and branch pulmonary
arteries HI. A remnant of the
pulmonary valve =:I
remains
but does not prevent reversal
of (Jow into the right
ventricle (RV). Aorta (Ao).
Twin-Twin Transfusion Syndrome

ultrasound of the recipient in
a case of TTTS. There is
reversal of the ductus
venosus A wave __
indicating increased cardiac
pressures and impending
heart failure. (Right)
Radiograph at birth shows
massive cardiomegaly in =:I
the recipient twin in a case
of twin-twin lransfusion
syndrome.
5
14
CARDIOMEGALY
..
(")
III
Q.
i"
n

cardiomegaly lIllI in the
pump twin of a pair with
twin reversed arterial
perfusion (TRAP) sequence.
Following radiofrequency
ablation of the TRAP twin's
cord, the pump twin did well
and was delivered allerm
with no apparent adverse
consequences. (Right)
Sagittal ultrasound shows the
anomalous TRAP twin in the
soft tissue edema =

same case. Note the marked
lack of
cranial structures HI and
"empty" thoracic cavity III

ultrasound shows large
vessels lIllI coursing from the
abdomen into the solid
sacrococcygeal teratoma !fa
which is larger than the fetal
body B1. (Right) Clinical
photograph in the same case
shows the large, bilobed
mass ~ which is
significantly larger than the
infant's torso The mass
distorted the perineum but
did not obstruct bowel or
bladder. Perfusion of such a
large hypervascular mass
results in a high output state
and may cause hydrops.
Vein of Galen Malformation Vein of Galen Malformation

shows a flow void in a
structure =
dilated midline vascular
the typical
appearance of a VGM. In
this case, the malformation
drains into the straight sinus
1IIIl. (Right) Radiograph
performed shortly after birth
demonstrates cardiomegaly
and mild pulmonary edema
lIllI. Although the patient's
congestive heart {ailure was
responding to medical
therapy, progression of
cerebral volume loss
prompted transcatheter
embolization of the fistula.
5
15
u SEPTAL DEFECT
.!!!
'0
~
III
o • Aorta should arise from morphologic left
ventricle (LV)
Common
• PA should arise from morphologic right
• Isolated Ventricular Septal Defect (VSD) ventricle (RY)
o Muscular VSD
• Watch for potential "drop out" in septum
o Perimembranous VSD
due to the angle of insonation
o Inlet VSD
o From the apex, muscular to membranous
o Outlet VSD
transition looks like a VSD
• VSD with Complex Congenital Heart Disease o Look in multiple different views and
• Atrioventricular Septal Defect angles to confirm presence of a VSD
• Foramen Ovale Aneurysm o Color Doppler may be useful to confirm
flow across suspected VSD
ESSENTIAL INFORMATION Helpful Clues for Common Diagnoses
Key Differential Diagnosis Issues • Isolated Ventricular Septal Defect (VSD)
• Is the "crux" of the heart present? o Muscular VSD
o If yes, atrioventricular septal defects • Best seen on four chamber view
(AVSD)are ruled out • Small defects very difficult to see by 2-D
o If no, assess for balance of defect over • Larger defects easier to see with beam
ventricular chambers perpendicular to septum
• Balanced AVSD:Both ventricles receive • In absence of outflow obstruction, no
flow, symmetric in size pressure gradient between RV and LV'
• Unbalanced AVSD:AVvalve committed therefore little flow and color Doppl~r
to one ventricle, other ventricle becomes often not helpful
hypoplastic due to lack of blood flow o Perimembranous VSD
• Is the foramen ovale flap bulging into the • Best viewed from the long axis or left
left atrium normally? ventricular outflow tract (LVOT)view
• Are there additional holes in the atrial with visualization of aortic valve
septum? • Common in association with other heart
• Is there a hole in the ventricular septum and diseases, especially tetralogy of Fallot
if so, where? • Aneurysmal tissue from the tricuspid
o Muscular: In thick muscular part of valve will partially or completely close
septum, most often at the apex this defect in many cases
o Perimembranous: Located in LV outflow o Inlet VSD
tract beneath the aortic valve, may extend • Best viewed from the four chamber view
into adjacent portions of muscular septum with beam angled toward posterior
o Inlet: At plane of AVvalves where atrial diaphragm
blood enters ventricles (i.e., at ventricular • Common in association with partial or
inlet), posterior and inferior to complete AVSD
membranous septum • Gives impression that AVvalves have
o Outlet: In RV infundibulum beneath nothing to attach to
o Outlet VSD
pulmonary valve (i.e., at ventricular outlet)
• Are there other cardiac lesions? • Viewed best from the short axis or right
o VSD is a very common component of ventricular outflow tract (RVOT) view
complex congenital heart disease • Defect is located so as to direct blood
• Flow to a great vessel is often dependent below pulmonary valve
on presence of VSD • Almost always found in association with
o Look carefully at outflow tracts other heart disease
• Normally cross as they exit heart • VSD with Complex Congenital Heart
• Normally symmetric in size Disease
o Tetralogy of Fallot
• Aorta normally posterior to pulmonary
artery (PA)
5
16
SEPTAL DEFECT o
III
~
c-
oj"
• When severe, this may be confused with n
• Aorta overrides interventricular septum,
straddling VSD hypoplastic left heart or tricuspid atresia
• With severe pulmonary stenosis or • Foramen Ova Ie Aneurysm
atresia, flow is directed toward aorta o Redundant tissue in foramen ovale flap -
o Truncus arteriosus "balloon" appearance
• Single truncal valve straddles septum • Flap extends at least half way across left
• Blood from both ventricles exits heart via atrium
truncus which gives rise to aorta and PA • Flap excursion> S mm beyond plane of
o Double outlet right ventricle atrial septum
• Both great arteries arise over RV o Flap demonstrates abnormal mobility
necessitating a VSD to provide blood • May make cyclical contact with left atrial
flow to both body and lungs wall and/or mitral valve
o Interrupted aortic arch o S% of fetuses may have benign rhythm
• VSD is necessary to carry oxygenated abnormalities
blood to the body via ductus arteriosus Other Essential Information
• Atrioventricular Septal Defect • Muscular and peri membranous VSDs in
o May be balanced or unbalanced over the isolation have a high likelihood of closure
ventricular septum • Inlet and outlet VSDs tend to require
o "Crux" of the heart is missing; only one AV surgical closure
valve present, not two • VSDs in association with other congenital
o Primum atrial septal defect heart disease always require closure if a two
• Size is variable, but may appear to be a ventricle circulation is the goal
common atrium when large o Patients who require palliation for a single
• If small, focus on valve being in the same ventricle will have their VSDs left alone
plane to diagnose and occasionally enlarged to assure
o Inlet ventricular septal defect adequate flow to the head and body
• Size is variable, septum may actually • Identification of a secundum atrial defect is
appear to be absent in some cases very difficult, as location is the same as
• Focus again on valve being in same plane foramen ova Ie
and presence of a primum atrial defect • Isolated foramen ovale aneurysm is a benign
o AV valve regurgitation is very common entity
o When AVSD is unbalanced, one
ventricular chamber will be small
Muscular VSD Muscular VSD
Four chamber view echocardiogram shows a small

mid·septal muscular defect =.
Ventricular sizes are
Four chamber view c%r Doppler echocardiogram
shows the same small muscular ventricular septal defect
5
normal, although the right atrium HI is increased in 1:1. The right atrium (RA) is enlarged. Right ventricle
size. Left ventricle (LV), right ventricle (RV). (RV).
17
U
IV SEPTAL DEFECT
:c
"-
IV
()
Muscular VSD Muscular VSD

(Left) LVOT echocardiogram
shows an anterior muscular
ventricular septal defect
between the right HI and left
=
(LV) ventricles. The
ascending aorta and aortic
valve IJ:l are well seen in this
LVOT projection. Left atrium
(LA). (Right) LVOT color
Doppler echocardiogram
shows the same anterior
defecl =
muscular ventricular septal
with flow into the
right ventricle IJ:l. Note
laminar flow oul the aortic
valve HI. Left ventricle (LV).
Muscular VSD Perimembranous VSD

color Doppler
defect =
muscular ventricular septal
with flow bel ween
the right (RV) and left HI
ventricles. Right atrium (RA).
(Right) LVOT
echocardiogram is angled 10
give the best view of a
perimembranous
septal defect = ventricular
beneath the
aorlic valve IJ:l. Aorta (Ao),
left ventricle (LV), right
ventricle (RV).
VSD with Complex Congenital Heart

Inlet VSD Disease
echocardiogram with
angulation of the beam
toward the posterior
diaphragm shows an inlel
ventricular septal defect
which is identified beneath
=
the septalleaffet of the
tricuspid valve Eiil (Right)
Long axis echocardiogram
(LVOT view) shows a large
truncal valve = overriding
the ventricular septum with
VSD IJ:l. The truncus gives
rise to an interrupted aortic
arch (Ao) and a pulmonary
artery (PA). Left ventricle
(LV).
5
18
(")
SEPTAL DEFECT
...c-
Dl
oj"
n
VSD with Complex Congenital Heart VSD with Complex Congenital Heart
Disease Disease
large, muscular ventricular
septal defect" and the
right ventricle (RV) is dilated.
Additional imaging showed
this patient had tetralogy of
Fallot with absent pulmonary
valve. (Right) LVOT
aorta = overriding the
interventricular septum •.
Additional imaging showed
this patient had findings
consistent with tetralogy of
Fallot. Left ventricle (LV),
right ventricle (RV).
Atrioventricular Septal Defect Atrioventricular Septal Defect

classic balanced
with the "crux" of the heart
HI missing in diastole. This
indicates both a primum
atrial defect and an inlet
ventricular septal defect. Left
ventricle (LV), right ventricle
(RV), left atrium (LA), right
atrium (RA). (Right) Four
chamber view color Doppler
same image, with flow from
each atrium (RA, LA)
entering each ventricle
without obstruction =.
Foramen Ovale Aneurysm

right dominant
atrioventricular septal defect.
There ;5 a primum atrial
septal defect ('), an inlet
ventricular septal defect !Ill
and a hypoplastic left
ventricle HI. Right ventricle
(RV), right atrium (RA).
foramen ovale aneurysm =
bowing well into the left
atrium from the right atrium
(RA).
5
19
u ABNORMAL OUTFLOW TRACTS
.!!!
•..
"C
l'lI
(.)
DIFFERENTIAL DIAGNOSIS o Aortic valve often is atretic or very small
o Ascending aorta and transverse arch are
Common very small
• Hypoplastic Left Heart Syndrome (HLHS) o Right ventricle (RV) is large and wraps
• Tricuspid Atresia (TA) around the LV apex
• Tetralogy of Fallot (TOF) • Function is typically very good
• Pulmonary Valve Stenosis, Atresia • Tricuspid Atresia (TA)
less Common o Abnormal four chamber view with small,
• Transposition of Great Arteries (TGA) non-apex-forming right ventricle
• Double Outlet Right Ventricle (DORV) • Tricuspid valve appears "plate-like" with
• Truncus Arteriosus no movement
• VSD usually present -+ blood flow to
Rare but Important
great artery arising from RV
• Interrupted Aortic Arch (IAA)
o Size of great artery arising from RV (PA or
aorta) depends on size of VSD
ESSENTIAL INFORMATION • Larger VSD -+ bigger artery
o Left ventricle is normal to large in size
with good function
• Are there one or two ventricles?
• Tetralogy of Fallot (TOF)
o If a ventricle is hypoplastic, the
o Dilated aortic root overriding a VSD
corresponding great vessel is typically
o Pulmonary stenosis almost always present
small or atretic
• Commonly due to anterior deviation of
• Is a ventricular septal defect (VSD) present? the infundibular septum
o Does the aorta override the
o Both ventricles normal in size
interventricular septum?
• RV may be hypertrophied if significant
• Do the great vessels exit the heart side by pulmonary stenosis
side?
• Pulmonary Valve Stenosis, Atresia
o Normal relationship is for the great vessels
o Pulmonary valve stenosis typically -+
to cross as they exit the heart
normal sized RV and small pulmonary
• Are the aorta and pulmonary artery (PA) valve
similar in size (i.e., normal), or is there a
• Turbulent, high velocity flow is noted
discrepancy?
across the valve
• Are ductal and aortic arches present?
• Often accompanied by tricuspid
o Ductal arch is often larger than aortic arch
regurgitation
o Normal flow in the ductus arteriosus is
o Pulmonary atresia with intact ventricular
right to left
septum -+ hypoplastic right ventricle
• Reversed in pulmonary atresia as PA fills • Reverse flow in the ductus arteriosus
retrograde from aorta
• Ductus more vertically oriented than
o Retrograde flow in the aortic arch suggests
usual
left-sided obstruction
• Abnormal coronary flow suggests
• Aortic arch fills retrograde from PA via coronary sinusoids
ductus
• Right ventricular pressure is greater than
Helpful Clues for Common Diagnoses systemic
• Hypoplastic Left Heart Syndrome (HLHS) o Pulmonary atresia with VSD
o Abnormal four chamber view with small, • VSD is large
non apex-forming left ventricle (LV) • Aorta may override septum
• May see brightly echogenic LV • Pulmonary arteries may be absent or very
endocardium with endocardial small
fibroelastosis • Collaterals off the descending aorta may
• Ventricular function is poor be the only blood supply to the lungs
• Interatrial septum bowed left to right
5
20
ABNORMAL OUTFLOW TRACTS
..
(')
Dl
Co
iii'
o Arch gives rise to one or more vessels n
which extend straight into neck
• Transposition of Great Arteries (TGA)
• Normal "candy cane" arch view is not
o Outflow tracts parallel as they exit heart
attainable
o Aorta arises anteriorly from RV
• Blood supply is only to head - aorta is
o Pulmonary artery arises posteriorly from
small in size
LV • Ductus arteriosus supplies all blood to
o VSD common
lower body
o Both ventricles are of normal size with
o VSD usually present with posterior
good function
deviation of septum
• Double Outlet Right Ventricle (DORY)
o Prominent, dilated aortic root overriding a Other Essential Information
VSD • Single ventricles (HLHS and truncus
• > 50% of aortic root arises from RV arteriosus) cannot be corrected, only
o Outflow tracts parallel as they exit the palliated
heart o Each require 3 surgeries, and life
• Usually normally related with aorta expectancy is shortened
posterior to PA o Presence of AV valve regurgitation and an
o Ventricles are normal in size unless intact atrial septum increases surgical risk
associated atrioventricular (AV) valve • TGA, DORV, and TOF can be surgically
atresia corrected
• Truncus Arteriosus o Repair is within the first weeks to few
o Single great artery (truncus) exits the heart months of life
• Branches into an aorta and pulmonary o Normal life expectancy in most cases
trunk • lAA and pulmonary atresia are ductal
o VSD almost always present dependent lesions
o Truncal valve often abnormal with stenosis o Newborn requires surgical or catheter
or insufficiency intervention
• Count valve leaflets of great artery, if> 3 o lAA, once repaired, has a normal life
~ truncal valve expectancy without additional
o Both ventricles are normal in size with intervention
good function
• Interrupted Aortic Arch (IAA)
Hypoplastic left Heart Syndrome

(HlHS)
Long axis echocardiogram day 1 of life shows a RVOT view day I of life shows a larger aorta (Ao) than 5
valve =
hypoplastic left ventricle (LV) with a thick, atretic aortic
and small, hypoplastic ascending aorta
Left atrium (LA), right ventricle (RV).
=.
RVOT With tricuspid atresia, Ihe only RVOT flow in
valve=
utero was via a V5D. Note the thickened pulmonary
and small branch pulmonary arteries (PAs). 21
u ABNORMAL OUTFLOW TRACTS
.!!!
•..nI
'0
()
Tetralogy of Fallot (TOF) Tetralogy of Fallot (TO F)

(Left) Long axis
infundibulum =-
anterior deviation of the
causing a
small PA !Ill despite the
presence of a ventricular
septal defect ED The aorta
comes off the left ventricle
(LV) but there was override
consistent with tetralogy of
Fallo/. (Right) Long axis color
Doppler echocardiogram in
the same case shows laminar
flow out the aorta =:I and
pulmonary artery E!lI. A large
VSD is easily seen !Ill. Left
ventricle (LV).
Pulmonary Valve Stenosis, Atresia Pulmonary Valve Stenosis, Atresia

(Left) RVOT echocardiogram
shows a thick and dysplastic
pulmonary valve =:Iwith a
dilated main pulmonary
artery (MPA). Right ventricle
(RV). (Right) RVOT pulsed
shows a gradient across the
pulmonary valve of 49
mmHg. This indicates at
least moderate pulmonary
stenosis.
Pulmonary Valve Stenosis, Atresia Pulmonary Valve Stenosis, Atresia

(Left) RVOT echocardiogram
shows the aorta arising from
the anterior right ventricle
!Ill and the pulmonary artery
11I:I arising posterior to the
aorta (Ao). The pulmonary
valve E!lI appears atretic.
(Right) RVOT color Doppler
turbulent flow starting at the
pulmonary valve =:I and
entering the main pulmonary
artery El which is dilated.
5
22
ABNORMAL OUTflOW TRACTS o
..,
III
Q.
iii'
n
Transposition of Great Arteries (TGA) Double Outlet Right Ventricle (DORV)

(Leh) Transverse
aorta coming off the anterior
right ventricle (RV) and the
pulmonary artery. arising
from the posterior left
ventricle (LV), consistent
with transposition. (Right)
Four chamber view
echocardiogram shows both
great arteries III main
pulmonary artery (MPA) and
ascending aorta (AAo),
coming off the right
ventricle. There is also a
large ventricular septal
defect El Left ventricle (LV),
right ventricle (RV).
Truncus Arteriosus Truncus Arteriosus

a large truncal valve ~ and
root giving rise to a
pulmonary artery (PA) and
aorta ~ with head and neck
vessels ICB Descending aorta
(DAo). (Right) Sagittal
oblique echocardiogram
shows a large truncal valve
• over a ventricular septal
defect El The truncus
continues to the descending
aorta (DAo).
Truncus Arteriosus Interrupted Aortic Arch (IAA)

(Left) Echocardiogram of the
outflow tracts shows the
single truncus III giving rise
to a pulmonary artery BI
and aorta _ (Right) Sagittal
oblique echocardiogram
shows the ascending aorta
(AAo) heading straight to the
head •. Note the distance
between the ascending aorta
and the ductus arteriosus HI
and descending aorta (DAo).
The subclavian artery IIl!ll
arises from the descending
aorta, making this a type B
interruption of the aortic
arch.
5
23
u ABNORMAL RATEOR RHYTHM
.!!!
't:l
"-l'll
o DIFFERENTIAL DIAGNOSIS Helpful Clues for Less Common Diagnoses
Common • Complete Heart Block
• Premature Atrial Contraction o Bradyarrhythmia with slow independent
• Transient Bradycardia ventricular rate
o Look for heterotaxy: Left atrial isomerism
Less Common -+ no sinoatrial node
• Complete Heart Block o Look for ventricular inversion (i.e.,
• Supraventricular Tachycardia corrected transposition of great arteries)
• Atrial Flutter o Check maternal history for connective
tissue disease, Ro/La antibody status
ESSENTIAL INFORMATION • Antibodies cross placenta -+ immune
complex-mediated damage to
Key Differential Diagnosis Issues conduction system
• Normal heart rate: 100-180 beats per minute • Supraventricular Tachycardia
(bpm) o 1:1 AV relationship, intermittent or
o Irregular rhythm in this range most often incessant, starts/stops in 1 beat
benign premature atrial contractions • Atrial Flutter
(PACs) o Atrial rate> ventricular rate, incessant with
o Bradyarrhythmia is HR < 100 bpm no variation in atrial rate
o Tachyarrhythmia is HR > 180 bpm o Variable degrees of AV block: Most
• Supraventricular tachycardia (SVT): HR common 2:1
220-280 bpm
• Atrial flutter: HR 300-600 bpm
• PACs account for 85% of cases: Typically
Helpful Clues for Common Diagnoses resolve without treatment
• Premature Atrial Contraction • Bradycardia is difficult to treat, often
o Atrial contraction not conducted to requires pacing after birth
ventricle, o Poor prognosis with congenital heart
• Heart rate normal unless blocked PACs -+ disease
• ventricular rate o Complete heart block associated with
• < 5% may develop SVT in-utero fetal demise
• Transient Bradycardia • Transplacental drug therapy highly
o Anatomically normal heart, due to successful for tachycardia
excessive transducer pressure o Mortality increased if hydrops develops
Premature Atrial Contraction Premature Atrial Contraction
5 Pulsed Doppler echOGlrdiogram sha..vs normal s;nus M-mode echocardiogram sha..vs normal sinus rhythm
24
contractions=
rhythm with occasional
contraction HI.
blocked premature atrial
The "a" ;s nOl followed by ventricular =
with occasional blocked premature atrial contractions
(v).
The "a" is not followed by ventricular contraction
ABNORMAL RATE OR RHYTHM o
III
~
Q.
iij"
n
Complete Heart Block Complete Heart Block

(Leh) Pulsed Doppler
echocardiogram shows atrial
contractions =:I coming at
regular intervals but not
correlating to the ventricular
contractions HI Some atrial
contractions are not seen
because they are occurring
at the same lime as the
ventricular contractions.
echocardiogram
mitral inflow = shows
and aortic
outflow E!lI. There are two
atrial "a II beats for every
ventricular IIV" beal,
demonstrating second
degree heart block.
Supraventricular Tachycardia Supraventricular Tachycardia

onset of tachycardia at a rate
of 277 bpm was caused by
an atrial contraction "al/.
termination of the
tachycardia with an atrial
contraction II a" and the start
of normal sinus rhythm (an

"a" followed by a "v"),
Atrial Flutter Atrial Flutter

(Left) M-mode
echocardiogram shows an
atrial rate. of
approximately 400 bpm
(caliper set 2) with a
ventricular rate &I of
approximately 200 bpm
(caliper set 1) indicating
atrial flutter with 2: 1 AV
block. (Right) Pulsed
contraction =
shows rapid atrial
at 412 bpm
with every other atrial beat
being hidden. Ventricular
rate E!lI is 206 bpm.
5
25
u CARDIAC MASS
.~
•...,
't:l
o DIFFERENTIAL DIAGNOSIS • Papillary Muscle

o Normal feature of right and left ventricles
Common o Left ventricular papillary muscles do not
• Echogenic Cardiac Focus connect to septum: Defining feature of a
• Moderator Band morphologic left ventricle
• Papillary Muscle
Less Common • Rhabdomyoma
• Rhabdomyoma o Multiple, ventricular echogenic masses
• Hypertrophic Muscle o Varying sizes
Rare but Important o Typically resolve with time
• Teratoma o Associated with tuberous sclerosis, look
• Fibroma carefully at brain

• Hypertrophic Muscle
o Often with asymmetric septal
ESSENTIAL INFORMATION hypertrophy, not echogenic
Key Differential Diagnosis Issues o Hypertrophy is uniform and concentric
• Is the mass echogenic? Helpful Clues for Rare Diagnoses

• Is it associated with the papillary muscle? • Teratoma
• Single or multiple masses? o May be intra- or extrapericardial
• Where are they located? o Pericardial effusion common
o Ventricle, septum, or on pericardium • Fibroma
Helpful Clues for Common Diagnoses o Typically a single tumor involving left
• Echogenic Cardiac Focus ventricular free wall or septum
o Normal intracardiac anatomy o May be large causing outflow obstruction
o Focus is bright as bone Other Essential Information
o Small, associated with papillary muscle • Echogenic cardiac focus is most commonly
o Usually incidental finding but is a soft benign and not associated with cardiac
marker for trisomy 21 pathology
• Moderator Band o If multiple may be associated with
o Distinguishing feature that identifies right aneuploidy
ventricle
o Normal muscle band from free wall to
septum at 45° angle near apex
Echogenic Cardiac Focus Moderator Band
5 Axial echocardiogram shows typical example of an fCF

., seen in a fetus with trisomy 21. This is usually an
LVOT echocardiogram shows the moderator band .,
in the right ventricle (RV) as it attaches to the septum at
incidental finding. but if you see an fCF look for other nearly a 45 degree angle. Left ventricle (LV), aorta (Ao).
findings associated with Down syndrome.
26
CARDIAC MASS o
..•
III
Q.
Di"
n
Rhabdomyoma
(Left) Four chamber view of
the heart shows a papillary
muscle = in the surviving
twin of a monochorionic
pair, complicated by twin
demise. The heart dilated
progressively and at autopsy
ischemic brain and
myocardial injury were
confirmed. (Right) Four
chamber view
massive rhabdomyoma
involving the ventricular
=
septum. Right atrium (RA),
right ventricle (RV), left
ventricle (LV).
Rhabdomyoma
(Left) Axial TI WI MR shows
the typical appearance of
subependymal nodules HI
associated with tuberous
sclerosis. Cardiac
rhabdomyomas are the most
common prenatal finding in
tuberous sclerosis. (Right)
Four chamber view
narrowed
outflow tract =
left ventricular
and the
presence of a pericardial
effusion HI The muscle is
concentrically hypertrophied
1:1 Left ventricle (LV), right
ventricle (RV).
teratoma =
shows a large intrapericardial
adjacent to the
heart Illll. It is surrounded by
a massive, high-signal
pericardial effusion. No
norma/lungs are visualized.
Ascites iii is also present.
echocardiogram in a neonate
shows a large cardiac
fibroma 1:1 which is
virtually indistinguishable
from the septum. There is an
inhomogeneous area ED
within the fibroma, which
aids in the diagnosis.
5
27
Abdominal Wall
Abdominal Wall Defect 6-2
Gastrointestinal Tract
Small/ Absent Stomach 6-6
Echogenic Bowel 6-10
Dilated Bowel 6-12
Ascites 6-16
Abdominal Calcifications 6-18
Large Abdominal Circumference 6-22
Hepatomegaly 6-28
Cystic Abdominal Mass 6-32
Solid Abdominal Mass 6-38
Genitourinary Tract
Mild Pelviectasis 6-40
Fetal Hydronephrosis 6-42
Renal Enlargement 6-46
Echogenic Kidneys 6-50
Cystic Kidney 6-52
Absent Kidney 6-54
Large Bladder 6-56
Absent/Small Bladder 6-58
Adrenal Mass 6-62
Ambiguous Genitalia 6-64
Scrotal Mass 6-66
C
Gl ABDOMINAL WALL DEFECT
E
o
'0
.a DIFFERENTIAL DIAGNOSIS • Both intra- and extra-abdominal loops
c(
may be dilated
Common • Bowel wall may become thickened,
• Gastroschisis echogenic, matted, and nodular from
• Omphalocele fibrinous peel on exposed bowel
• Physiologic Gut Herniation (Mimic) • Omphalocele
Less Common o Midline abdominal wall defect with
• Amniotic Band Syndrome herniation of abdominal contents into
• Body Stalk Anomaly base of umbilical cord
o Smooth mass protruding from central
Rare but Important anterior abdominal wall with covering
• Bladder Exstrophy membrane
• Cloacal Exstrophy o Umbilical cord inserts onto membrane
• Pentalogy of Cantrell • Usually centrally but may be eccentric
• OEIS Syndrome o Liver and small bowel most common
contents
ESSENTIAL INFORMATION o Associated structural abnormalities are
common
Key Differential Diagnosis Issues • Omphaloceles containing small bowel
• Must document normal abdominal wall have higher association of both
surrounding cord insertion in every case chromosomal and structural
• Umbilical cord insertion site key for making malformations
diagnosis • Cardiac and gastrointestinal
o Gastroschisis: Defect to right of normal
malformations are most common
cord insertion • Aneuploidy in 30-40%: Trisomy 18 most
o Omphalocele: Cord inserts on membrane
common
surrounding defect • Also associated with syndromes
o Bladder and cloacal exstrophy: Low defect
including Beckwith-Wiedemann
below cord insertion (omphalocele, organomegaly,
• Cord insertion may be involved with macroglossia)
cloacal extrophy • Physiologic Gut Herniation (Mimic)
o Pentalogy of Cantrell: High defect above
o Be careful diagnosing an abdominal wall
and potentially involving the cord defect before 12 weeks
insertion • Bowel does not return to abdomen until
o Amniotic band syndrome: No defined 11.2 weeks
anatomic distribution o Normal bowel herniation should not
Helpful Clues for Common Diagnoses extend more than 1 cm into cord
• Gastroschisis o Never contains liver
o Bowel herniation through a right Helpful Clues for less Common Diagnoses
paramedian abdominal wall defect • Amniotic Band Syndrome
o Color Doppler shows umbilical cord o "Slash" defects that do not conform to
insertion in normal location developmental malformations
o No covering membrane
• Asymmetric distribution of defects is
o Small bowel always herniates through hallmark of syndrome
defect o Often involves multiple parts of the body
• Large bowel and stomach also reported • Defects may be isolated or multiple, but
• If liver or other solid organs are seen, not in specific pattern
gastroschisis unlikely (consider ruptured o Craniofacial deformities are common and
omphalocele, amniotics bands, body often severe
stalk, pentalogy of Cantrell) o Bands in amniotic fluid appear as multiple
o Variable appearance of bowel
thin membranes
6
2
ABDOMINAL WALL DEFECT >
a-
D.
o
o Bands are often tightly adherent to fetus • Rescan after an interval of 10-15 minutes 3
CII
;;,
and may not be visible • Cloacal Exstrophy
• Body Stalk Anomaly o Spectrum of abnormalities resulting from
o Lethal malformation characterized by abnormal development of cloacal
attachment of visceral organs to the membrane
placenta o Absence of normal bladder
• Short or absent umbilical cord o Lower abdominal wall defect
• Vessels seen running from placental • Herniation of bowel between 2 halves of
surface to fetal torso a split bladder
• No free floating cord identified • Appearance of prolapsed ileum described
o Gross distortion, with loss of anatomic as looking like an elephant's trunk
landmarks • Omphalocele forms upper part of defect
o Scoliosis prominent feature • Males may have bifid scrotum and penis
• May have multiple acute angulation o Associated anomalies very common
points • Vertebral, myelomeningocele, urinary
Helpful Clues for Rare Diagnoses tract, gastrointestinal, clubfeet
• Bladder Exstrophy • Pentalogy of Cantrell
o Complex malformation with 5
o Failure of lower abdominal wall closure
resulting in exposed bladder components
o Variable severity
• Anterior diaphragmatic hernia
• Mild form associated with exstrophy of • Midline abdominal wall defect
urethra and external sphincter • Cardiac anomalies
• Severe form associated with wide • Defect of diaphragmatic pericardium
diastasis of symphysis pubis and genital • Lower sternal defect
o Most likely diagnosis when there is a high
defects
o Absence of bladder on prenatal ultrasound
omphalocele associated with ectopia cordis
o Soft tissue mass on lower anterior
• OEiS Syndrome
o Full complex consists of 4 components
abdominal wall, below cord insertion
• Mass is posterior bladder wall • Omphalocele
• No extruded abdominal contents as in • Exstrophy of bladder
other abdominal wall defects • Imperforate anus
o Beware of misdiagnosis in cases of a
• Spinal deformities
o Some authors consider OElS to be
normal but empty bladder
synonymous with cloacal exstrophy
Gastroschisis Gastroschisis
Axial c%r Doppler ultrasound in a 12 week felus

shows a normal cord insertion lID on the abdominal
Axial ultrasound in a 2nd trimester fetus shaws a large
gaslroschisis with free floating loops of non-dilated
6
wall, with adjacent loops of extruded bowe/l!l\1. bowe/lilll. The stomach EiI is also partially herniated
lhrough the defect.
3
r;;
Ql
ABDOMINAL WAll DEFECT
E
o
"0
.c
c(
Omphalocele Physiologic Gut Herniation (Mimic)

ultrasound of a 2nd trimester
fetus shows a small, midline,
omphalocele =-
bowel-containing
Note how
the cord inserts on the apex
of lhe sac lEI and lhen
branches as it enters the
fetus. (Right) Axial
ultrasound in the 1st
trimester has a similar
appearance with bowel.
herniating into the base of
lhe cord. This is a normal
finding before 12 weeks and
an omphalocele.

a large abdominal defecl,
with the entire liver IlilII and a
portion of the bowel BI
exlruded from the abdomen
lEI. A primary abdominal
wall defect could be
considered in the differential
diagnosis, but craniofacial
defects were also present,
making amniotic bands more
likely. (Right) Another image
in the same case shows a
band IlilII within the amniotic
fluid. Bands are often tightly
adherent to the fetus and
difficult to see.

ultrasound shows acute
angulation of the fetal body
1lilII. The extremities moved
freely, but the spine and fetal
location were fixed. Extruded
small bowel could not be
differentiated from the
placenta Ill. (Right)
Transvaginal color Doppler
extruded fetal liver =-

in the same case shows the
were no free loops of cord,

There
and only a short segment BI

could be seen going direclly
from the fetal body to the
placenta Ill.
6
4
ABDOMINAL WALL DEFECT »
c-
o.
o
3
III
::::I
Bladder Exstrophy
(Leh) Axial oblique
ultrasound of the lower fetal
abdomen shows an irregular,
echogenic contour of the
anterior abdominal walllBl.
No normal bladder is seen.
after delivery shows a large,
lower abdominal wall defect,
with exposed mucosa of the
posterior bladder wall. The
=
ureteral orifices and
urethral orifice ~ are seen.
Cloacal Exstrophy Cloacal Exstrophy

(Left) Axial oblique image
through the lower abdomen
shows a soft tissue mass =..
which was inFerior to the
cord insertion site. The
scrotum was bifid Elil and
no bladder was seen. (RighI)
Clinical photograph in a
different, but similar, case
shows the extruded bowel
being retracted, exposing the
two halves of the split
bladder ~ and a small penis
III There is a bifid scrotum
IdI. The right testis was
undescended, accounting for
the smaller size of that sac.

a herniated liver III with the
cardiac apex III protruding
from the chest into the
defect. There is also a
pericardial effusion E!ll
a similar case shows ectopia
cordis III as well as
abdominoschisis. Other
findings included absence of
the sternum, deficiency of
the diaphragm and
pericardium, and a
ventricular septal defect. This
constellation of findings is
diagnostic of pentalogy of
Cantrell.
6
5
c
CIl
SMAll/ABSENT STOMACH
E
o
"0
.a DIFFERENTIAL DIAGNOSIS • Best performed in a coronal plane
< • Use color Doppler to identify carotid and
Common jugular vessels
• Normal Transient Finding o IUGR seen in up to 40%
• Esophageal Atresia • Ingested amniotic fluid important for
• Congenital Diaphragmatic Hernia growth in latter half of gestation
• Oligohydramnios o Polyhydramnios rarely develops before 20
less Common weeks
• Abnormal Swallowing • Fetal swallowing not important part of
o Arthrogryposis, Akinesia Sequence amniotic fluid dynamics until that time
o Cleft Lip, Palate • Polyhydramnios usually progressive after
20 weeks and may be severe in 3rd
Rare but Important trimester
• Neck Mass o Part of VACTERLassociation
o Goiter
• Vertebral anomalies
o Teratoma
• Anal atresia
• Cardiac malformation
ESSENTIAL INFORMATION • Tracheoesophageal fistula
• Renal anomalies
Key Differential Diagnosis Issues • Limb malformation (frequently radial
• Often difficult to define when a stomach is ray)
"small" o Also associated with aneuploidy
o No defined measurements
• Trisomy 18 > trisomy 21
o Stomach size varies between patients
o Stomach size varies in same fetus over
o Stomach in chest rather than normal
several hours location
• Related to swallowing and peristalsis o May also have small bowel and liver in
o Requires experience
chest
• More likely to be a true finding if o Peristalsis within chest mass is
polyhydramnios is present pathognomonic
Helpful Clues for Common Diagnoses o Abdominal circumference small
• Normal Transient Finding o Polyhydramnios common
o 1% of normal fetuses have a small or • Oligohydramnios
absent stomach on initial scan, especially o Stomach is normal but may not be visible
in 1st and 2nd trimester because of lack of fluid to swallow
o Always get a follow-up exam if there is any o Stomach usually seen unless
question oligohydramnios is severe
• Esophageal Atresia • Renal agenesis
o Atresia of esophagus often associated with • Bilateral multicystic dysplastic kidneys
tracheoesophageal fistula (TEF) • Severe autosomal recessive polycystic
• > 90% have a fistula kidney disease
• Proximal atresia with distal TEF most • Posterior urethral valves
common type Helpful Clues for less Common Diagnoses
o Small or absent stomach
• Arthrogryposis, Akinesia Sequence
• Complete absence suggests either no TEF o Refers to a symptom complex caused by
or a very small, stenotic connection multiple different etiologies, resulting in
• Presence of fistula allows a small amount lack of fetal movement
of fluid to enter stomach via the trachea o Also includes lack of facial movement
o Look for esophageal "pouch" sign
• Open mouth posture
• Transient filling of proximal esophagus • Recessed chin
with swallowing • Decreased fetal swallowing
6
6
)0
SMALL/ABSENT STOMACH c-
o.
o
May prevent normal fetal "chin tuck" - 3
o Unusual or persistent abnormal posturing o lD
::::I
of limbs extended neck - obstructed labor
• Persistent "pike" position of lower limbs • Teratoma
with hyperextended knees o Mixed echogenicity mass with cystic and
• Cross-legged "tailor's position" of lower solid components
limbs, especially in a breech fetus o Calcifications are virtually pathognomonic
• Clubfeet, may be very severe but not always present
• Clenched hands that never open o Often very large, irregular shape
• Cleft Lip, Palate o May exhibit rapid growth
o Significant clefts may cause impaired o Cervical teratoma
swallowing • Located in the anterior neck
o 80% with cleft lip (CL) will also have cleft • Frequently extends to involve
palate (CP) surrounding structures
o Classification • May extend into mediastinum
• Type 1: Unilateral CL without CP • Head is often held in hyperextension
• Type 2: Unilateral CL with CP o Epignathus
• Type 3: Bilateral CL/CP • Nasopharyngeal teratoma
• Type 4: Midline CL/CP • Fungating oral mass
o Type 3-4 CL/CP often associated with • May have intracranial extension
aneuploidy/syndromes Other Essential Information
• Also more likely to have impaired • Follow-up scans should be performed on all
swallowing fetuses with a small stomach
Helpful Clues for Rare Diagnoses o Small stomach may be transient finding in
• Goiter normal fetus
o Homogeneous, smooth, anterior neck mass o Persistence on multiple exams more likely
• Maintains thyroid contour pathologic
• Similar appearance to a normal adult o Pathology likely if polyhydramnios
thyroid develops
o May obstruct swallowing resulting in • Anything that impairs fetal swallowing may
polyhydramnios and small stomach result in a small stomach and
o If esophagus is obstructed, trachea is also polyhydramnios
likely compressed
• May cause airway compromise at birth
Esophageal Atresia Esophageal Atresia
Axial ultrasound through the fetal abdomen shows a

m
Coronal color Doppler ultrasound of the fetal neck in
6
normal adrenal gland
There is also polyhydramnios=.
but no stomach bubble.
A focused scan of the
neck should be performed to evaluate the esophagus.
the same case
of esophageal
expansion and
shows the "pouch sign" III at the point
atresia. This blind-ending pouch showed
contraction with fetal swallowing.
7
C
GI SMAll/ABSENT STOMACH
E
o
"C
,g
<
Esophageal Atresia
2nd trimester fetus shows
present =
that the stomach bubble is
but smaller than
expected. There is also
polyhydramnios m (Right)
Frontal radiograph shortly
after delivery shows an
orogastric lube curled within
the esophagus and gas
within the stomach
indicaling there must be a
distal tracheoesophageal
fistula. The presence of a
fistula allows some fluid to
accumulate in the stomach
prenatally.
Congenital Diaphragmatic Hernia Congenital Diaphragmatic Hernia

abdomen of a 36 week fetus
shows no evidence of a
stomach bubble. In addilion,
the abdominal
circumference measures
small, which is a common
associated finding. (Right)
Axial ultrasound of the chest
in the same case shows
stomach BI in the chest,
with the heart 1:1 displaced
into the right hemithorax.
Arthrogryposis, Akinesia Sequence Arthrogryposis, Akinesia Sequence

(Left) Axialuansabdominal
ultrasound at the level of the
abdominal circumference
shows an absent stomach
bubble. (Right) Another
image from the same case
shows the hands III which
were persistemly held in an
abnormal orientation to the
wrist The legs were held in
extension, and the left foot
was clubbed. Fetuses with
arthrogryposis have impaired
swallowing and therefore an
absent or small stomach
bubble. Amniocentesis
showed trisomy 18.
6
8
SMALL/ABSENT STOMACH »
c-
o.
o
3
CD
:::l
Cleft Lip, Palate Cleft Lip, Palate

shows typical facial fearures
of bilateral cleft lip Il!lI and
palate, including the
premaxillary protrusion E!lI.
of a stillborn with trisomy 13
shows a broad,
abnormally-formed nose
with a bilateral cleft lip ffi
There is a/so micrognathia
E!ll These features impair
fetal swallowing.
Goiter
shows a fetal goiter ~
secondary to stimulation by
maternal antibodies. The
goiter has mass effect; it
restriC15 fetal swallowing and
causes distension of the
oropharynx = (Right)
Coronal ultrasound of the
fetal neck shows both lobes
of an enlarged thyroid 1l!lI.
The chin E!lI is extended, and
the trachea 11II is persistently
fluid-filled, increasing
concern for potential airway
obstruction at delivery.
Teratoma Teratoma
views through the fetal neck
show a complex, anterior
neck mass (calipers) that has
both cystic 11:I and solid IIliI
components. There was
associated polyhydramnios
and a small stomach from
compression of the
esophagus. (Right) Lateral
radiograph after delivery
shows a markedly narrowed
airwayffi
6
9
c:: ECHOGENIC BOWEL
Q)
E
o
"tI
.0 DIFFERENTIAL DIAGNOSIS o Look for other markers
<l:
• Cystic Fibrosis
Common o t In northern European Caucasians
• Idiopathic o ± Bowel obstruction (meconium ileus)
• Trisomy 21 • Infection
• Cystic Fibrosis o Cytomegalovirus most common
• Infection • Microcephaly (± calcifications)
o Cytomegalovirus o Intrauterine growth restriction
o Parvovirus o Hydrops
o Toxoplasmosis • Meconium Peritonitis, Pseudocyst
• Meconium Peritonitis, Pseudocyst o Bowel perforation => peritonitis
Less Common o Linear and punctate echoes/calcifications
• Ingested Blood • Outline liver and bowel
• Intrauterine Growth Restriction (IUGR) o Pseudocyst = walled-off fluid
o Dilated bowel from associated atresia
Rare but Important
• Bowel Ischemia Helpful Clues for Less Common Diagnoses
• Ingested Blood
o Dependent layering in stomach
ESSENTIAL INFORMATION o Often transient
Key Differential Diagnosis Issues o Look for evidence of prior perigestational
• Echogenic bowel (EB)grading hemorrhage as source for blood
o Grade 0: < Liver (normal) • Intrauterine Growth Restriction (IUGR)
o Grade 1: > Liver, < bone (normal) o 18% of 2nd trimester fetuses with EB
o Grade 2: = Bone (potentially abnormal) develop IUGR
o Grade 3: > Bone (potentially abnormal) o EB + t Alpha fetoprotein = severe placental
• Focal EB more likely pathologic than diffuse insufficiency
EB Helpful Clues for Rare Diagnoses
• High frequency probe may cause false EB • Bowel Ischemia
Helpful Clues for Common Diagnoses o From any fetal hypotensive event
• Idiopathic o Associated with twin-twin transfusion
o 0.6% incidence (unknown etiology) Other Essential Information
• Trisomy 21 • 6% adverse outcome when EB is isolated
o 6.7x t maternal a priori risk when isolated • 50% adverse outcome when EB not isolated
Trisomy 21
6 Coronal oblique ultrasound shows a 2nd trimester fetus

with isolated grade 3 echogenic Jxr..vel. The EB is focal
Ultrasound shows focal areas of EB = in a fetus with
nuchal fold thickening IIIl. The presence of two markers
(calipers) and is as echogenic as the iliac crest HI. for trisomy 21 led to amniocentesis, which confirmed
Karyotype was normal. the diagnosis.
10
ECHOGENIC BOWEL »
c-
o.
o
3
III
::::I
Cystic Fibrosis Parvovirus
shows £8 =
(Leh) Coronal ullrasound
as bright as
bone E!ll The paren15 were
subsequently (ound to be
cystic fibrosis carriers, and
the fetus was diagnosed with
cystic fibrosis at birth. (Right)
Coronal oblique ullrasound
shows £8 =. ascites
and body wall edema BI in
=
a fetus subsequently proven
to have parvovirus. The
findings were transient.
Meconium Peritonitis, Pseudocyst Ingested Blood

echogenicities =
shows focal coarse linear
& a small
=
hypoechoic fluid collection
in the fetal abdomen. The
findings represent peritoneal
calcifications & a small
pseudocyst. (Right) Sagittal
oblique ultrasound shows £8
==
BI & an echogenic fluid
level in the feral stomach
The pregnancy was
complicated by chronic
abruption. The £8 was
caused from ingested
intra-amniotic
blood/proteinaceous
material.
Intrauterine Growth Restriction (IUGR)

.-
.J::' (Left) Sagittal oblique
ultrasound shows £8
= in a
oligohydramnios and
intrauterine growth
restriction. The cause for the
'UCR in this case was severe
placental insufficiency.
ultrasound shows diffusely
echogenic bowel = in a
twin pregnancy complicated
by twin-twin transfusion. The
donor twin in this case
suffered from bowel and
brain ischemia.
6
11
I:;
CD DilATED BOWEl
E
o
"
..0
« DIFFERENTIAL DIAGNOSIS o Fluid-filled stomach & duodenum create
classic "double bubble" appearance in axial
Common plane
• Normal Third Trimester Bowel o Stomach & duodenum can be connected
• Duodenal Atresia during real-time imaging
• Jejunal, Ileal Atresia o No fluid in distal bowel loops
• Meconium Ileus o 30% will have trisomy 21
less Common o May also have an associated esophageal
• Anal Atresia atresia
• Volvulus • If a tracheoesophageal fistula is not
present, fluid may accumulate in distal
Rare but Important
esophagus, stomach, & duodenum,
• Cloacal Malformation forming a "C loop"
• Normal secretions accumulate in this
ESSENTIAL INFORMATION closed loop
• Accumulated secretions may cause
marked dilatation, much greater than
• Try to determine point of obstruction typically seen with just duodenal atresia
(proximal vs. distal)
• Jejunal, Ileal Atresia
• Assess peristalsis o Roughly equal involvement between
o Hyperperistalsis of obstructed bowel often
jejunum and ileum
seen in real-time evaluation o "Triple bubble" for proximal jejunal atresia
o Infarcted bowel loses ability for peristalsis
o "Sausage-shaped" bowel loops
• Polyhydramnios common with atresia, but o Hyperperistalsis of obstructed segments
timing & severity dependent on site of often seen in real time
obstruction o At risk for perforation and meconium
o Earlier presentation & more severe with
peritonitis ('" 6%)
proximal atresia • Meconium Ileus
o Usually not present before 24 weeks
o Obstruction of distal ileum due to
• Most present in 3rd trimester abnormally thick, tenacious meconium
o Amniotic fluid is often echogenic from
o Seen in fetuses with cystic fibrosis
fetal regurgitation of intraluminal contents o Echogenic bowel in 2nd trimester
• Intrauterine growth restriction (IUGR) • Increased echogenicity likely secondary
common with atresia to inspissated, mucus secretions in bowel
o Proximal atresias more likely to have IUGR
lumen
o Ingested amniotic fluid important for fetal
o Progresses to dilated small bowel in 3rd
growth in latter half of gestation trimester
• Always look for normal rectum/anus in • Appearance often indistinguishable from
setting of obstruction ileal atresia
o Normal rectum has hypo echoic walls with
o May perforate & present with meconium
a hyperechoic mucosa peritonitis
o Follow down to perineum in coronal or
o Systic fibrosis is a autosomal recessive
sagittal plane disorder
o "Target" appearance in axial plane
• If diagnosis is suspected, test parents for
Helpful Clues for Common Diagnoses carrier status
• Normal Third Trimester Bowel • Can also do amniocentesis for direct
o Colon, especially sigmoid, often detection of mutation in fetus
prominent in 3rd trimester o If not detected in utero, may present in
o Normal colon diameter .:S 18 mm newborn period with failure to pass
• Duodenal Atresia meconium
6
12
DILATED BOWEL »
CT
c-
o
o 10-20% of newborns with cystic fibrosis • Often difficult to differentiate from 3
CI)
have meconium ileus bowel atresia ='

o May have had a normal scan earlier in
gestation
• Anal Atresia
• Volvulus is an abrupt event
o May go undetected prenatally
o Compromise of vascular supply leads to
• Dilatation does not typically occur until
infarction & necrosis
3rd trimester
• Echogenic, intraluminal contents from
o Difficult to distinguish large from small
sloughing of necrotic mucosa
bowel
• Real-time evaluation important:
• U- or V-shaped bowel in pelvis suggestive
Infarcted bowel loses ability for
of anorectal atresia
peristalsis
o Scan in both coronal and axial planes
looking for normal rectum Helpful Clues for Rare Diagnoses
• May see rectum end above perineum • Cloacal Malformation
• Normal "target" appearance will not be o Persistent cloaca
present • Failure of urorectal septum to reach
o Often associated with urinary tract fistulae perineum
• Mixing of meconium with urine creates • Seen in female fetuses
enteroliths (may see calcified meconium • Results in single perineal opening for
"marbles" moving within bowel) urine, genital secretions, & meconium
o Part of VACTERL association • Hydrometrocolpos may be seen
• Vertebral anomalies secondary to communication of bladder
• Anal atresia with uterus and vagina
• Cardiac anomalies o Variable in utero presentation
• Tracheo-esophageal (TE) fistula • Cystic mass in pelvis
• Renal anomalies • Dilated pelvic bowel loops; may see
• Limb malformations enteroliths from mixing of meconium
• Volvulus and urine
o Single "kinked" loop is very suggestive but • Hydronephrosis
often difficult to determine • Lumbosacral anomalies
o May see multiple, dilated loops from • Abnormal genitalia with lack of normal
proximal obstruction labial/clitoral formation
• Ascites reported in some cases
Normal Third Trimester Bowel Duodenal Atresia
COlOnal ultrasound in the ]rd trimester shows

prominent, but normal, meconium-filled colon. Hepatic
Axial transabdominal ultrasound shows a dilated
stomach Eil connecting with a dilated duodenum PJ:I
6
flexure III splenic flexure !Ill and sigmoid colon BI in a fetus with trisomy 2 1. Note the echogenic amniotic
are well seen. fluid III which is secondary to fetal regurgitation.
13
C
Gl DILATED BOWEL
E
o
'0
,Q
«
Jejunal, Ileal Atresia Jejunal, Ileal Atresia
the jejunum =-
blindly in the lelt

ending
mid-abdomen.
Polyhydramnios is present,
and the amniotic fluid
contains echogenic debris.
(Right) Coronal oblique
shows distended bowel lilled
with thick, echogenic fluid,
which helps distinguish it
Irom the bladder =:I thai is
flanked by the umbilical
arteries. Surgery confirmed a
distal ileal atresia.
Meconium Ileus Meconium Ileus

ultrasound in a 2nd trimester
echogenic bowel =-
letus shows a local area 01
(Right)
A lollow-up scan in the 3rd
trimester shows progression
to dilated bowel loops
consistent with meconium
=-
ileus. Genetic testing
conlirmed cystic librosis.
Meconium Ileus Anal Atresia

shows a slightly dilated loop
01 bowel with echogenic
walls =:I in this letus with
cystic fibrosis. Meconium
ileus was confirmed at
delivery. (Right) Sagittal
ultrasound shows abrupt
=
termination of the sacrum
secondary to caudal
regression. The hypoechoic
V-shape =-
rectal walls abruptly end in a
well above
where the anus should be
Ell. VACTERLassociation
was conlirmed at birth.
6
14
DILATED BOWEl »
tr
Q.
o
3
CD
:l
Anal Atresia Volvulus

shows dilated bowel with
"marbles" =-
echogenic, meconium
which moved
on real·Lime exam. This
appearance is suspicious for
anal atresia with a
vesicocolic fistula. (Right)
ultrasound shows distended
fluid-debris level=
loops of bowel PIl2. Note the
from
sloughed, necrotic mucosa.
There was lack of peristalsis
on real-time exam. Postnatal
surgery showed small bowel
volvulus with extensive
bowel infarction.
Cloacal Malformation
(Left) Intra-operative
photograph in a different
case of mid-gut volvulus
shows twisted and infarcted
of the colon =-
small bowel Bl to the right
Note the
incidental large ovarian cyst
PIl2. (Right) Sagittal
loop =
appearing, dilated bowel
in the pelvis of a
fetus who was born with a
cloacal malformation.
Cloacal Malformation
(Left) Clinical photograph of
a newborn girl with a cloacal
malformation shows
single perineal opening =-

abnormal genitalia, with a
the cloaca, which is being

cannulated. (Right) Lateral
radiograph from a
cloacagram, in a different
newborn girl, shows a
catheter introduced through
the single perineal opening,
which represents a persistent
cloaca
vagina ==. The urethra Bl
and rectum ~
all communicate with the
cloaca.
6
15
C
Ql ASCITES
E
o
'0
.c DIFFERENTIAL DIAGNOSIS • Look for evidence of posterior urethral
« valves or urethral atresia
Common • Less commonly due to prune belly or
• Pseudoascites (Mimic) megacystis-microcolon
• Hydrops o Bladder rupture results in urinary ascites
• Bladder Rupture • Thick-appearing bladder wall after
• Bowel Perforation decompression
• Infection o Follow all fetuses with large bladder
Less Common • Likely transient finding if otherwise
• Tachyarrhythmia normal urinary tract
• Bowel Perforation
o Initial ultrasound may show dilated bowel
ESSENTIAL INFORMATION • Underlying atresia(s), volvulus,
Helpful Clues for Common Diagnoses intussusception, meconium ileus
• Pseudoascites (Mimic) o Often perforation event is occult, with
o Abdominal wall musculature can mimic ascites being the only finding
ascites o Look for signs of meconium peritonitis to
• Surrounds the anterolateral liver margin confirm diagnosis
but not seen posteriorly • Intraperitoneal calcifications
o More prominent with slightly oblique scan • Meconium pseudocyst
angle • Infection
o True ascites is seen in other parts of o Ascites may be isolated, but more
abdomen, outlines organs commonly, is part of generalized hydrops
• Hydrops o Look for hepatic or cerebral calcifications
o Fluid in 2 body spaces o Correlate with clinical history for maternal
• Skin edema, pleural effusion, ascites, signs of infection or exposures
pericardia I effusion Helpful Clues for Less Common Diagnoses
o Nonimmune or immune hydrops • Tachyarrhythmia
o Polyhydramnios and placentomegaly also o Sustained heart rate> 180-200 bpm
commonly present o Ascites may be isolated and first sign of
• Bladder Rupture impending failure/hydrops
o Initial ultrasound may show markedly o Always check heart rate in setting of
enlarged bladder isolated ascites
Pseudoascites (Mimic) Hydrops
6 Axial oblique ultrasound shows a prominent

hypoechoic linear area III lateral to the liver, which
• and ascites •.
ultrasound shows mild skin edema
Note that the ascites is anechoic
represents abdominal wall musculature and not ascites. and extends anteriorly around the liver, distinguishing it
This was not seen in other scan planes. from pseudoascites.
16
ASCITES ~
I:T
D-
o
3
CD
j

massive ascites with a free
floating membrane'" likely
representing the wall of the
Jesser sac. The fetus was
delivered at 33.5 weeks for
progressing hydrops and
severe polyhydramnios. No
underlying etiology was
discovered. (Right) Sagittal
transvaginal ultrasound ;n
the first trimester shows skin
edema
abdomen
=:I
=
and fluid in the
The couple
elected to have chorionic
vii/us sampling, which
showed Turner syndrome.
Bladder Rupture Bowel Perforation

shows a fetus with a
sacrococcygeal teratoma ••.
extending into the pelvis and
obstruction =
causing a bladder outlet
There is
urinary ascites BI from
bladder perforation. Note
the relatively thick-walled,
decompressed bladder ~
(Right) Sagittal ultrasound in
a newborn shows peritoneal
calcifications 11:I and ascites
IlIII at the liver margin,
supporting the prenatal
suspicion of meconium
peritonitis.
Tachyarrhythmia
abdomen shows ascites

as well as echogenic bowel
=
Elll These findings were

associated with fetal anemia
in the clinical setling of
maternal parvovirus
infection. (Right) Axial
ultrasound of the abdomen
shows a small amount of
ascites III in a fetus with a
sustained heart rate of 266
bpm. Ascites may be the first
manifestation of impending
failure and hydrops.
6
17
c: ABDOMINAL CALCIFICATIONS
Gl
E
o
'0
J:I DIFFERENTIAL DIAGNOSIS o Loculated fluid collection (pseudocyst)
ct
may also be present
Common • Walled-off perforation
• Meconium Peritonitis, Pseudocyst • Contents have variable echogenicity
• Gallstones • Walls often thick and may calcify
• Hepatic Calcifications o Dilated bowel present when secondary to
less Common obstruction
• Intraluminal Calcified Meconium • Not typical when secondary to ischemic
bowel perforation
Rare but Important
• Gallstones
• Teratoma o Echogenic calcifications in the gallbladder
• Fetus-in-Fetu • Shadowing may be present but not
necessary to diagnose stones
ESSENTIAL INFORMATION • "Comet tail" artifact sometimes present
• Mobile
• Not usually seen with biliary dilation
• Echogenic foci within fetal abdomen • Calcifications not always dependent, and
o May not have shadowing some may be within gallbladder wall
o Can be punctate or irregularly shaped o Most often seen 3rd trimester
• Differential diagnosis for etiology based on • Incidental finding during routine scan
location of calcifications o If gallbladder is contracted, gallstones may
oLiver mimic hepatic calcification
• Intraparenchymal vs. liver capsule • Focal linear area of echoes rather than
• Biliary diffusely spread through liver
o Bowel
• Diagnosis more easily made when
• Intraluminal vs. extraluminal gallbladder filled
o Peritoneum • If calcifications seen in typical location
o Abdominal mass of gallbladder, look again later during
• Look for any other associated findings for scan
clues
• When gallbladder fills, bile will outline
o Intracranial calcifications stones
• Infection o Usually spontaneously resolves within first
o Abnormal bowel year of life
• Meconium peritonitis • Postnatal ultrasound can confirm
• Anal dimple absent in anal atresia presence of stones
o Fluid collections
• Typically infants are asymptomatic
• Ascites and pseudocysts with meconium • Hepatic Calcifications
peritonitis o Intrahepatic, scattered, echogenic foci
o Soft tissue mass
• Seen with infection
• Teratoma • Association with chromosomal
• Fetus-in-fetu anomalies
• Other fetal abdominal tumors do not o Shadowing with larger calcifications
typically calcify o Occasionally seen incidentally, without
o Fetal anomalies known clinical consequences
Helpful Clues for Common Diagnoses • Exclude other anatomic abnormalities
• Meconium Peritonitis, Pseudocyst • Exclude infectious etiology
o Chemical peritonitis due to intrauterine • If isolated, most neonates will be
bowel perforation asymptomatic
o Intraperitoneal calcifications most specific o Capsular calcifications more often related
finding to meconium peritonitis
o Ascites
6
18
ABDOMINAL CALCIFICATIONS »
0-
Q.
o
• Teratoma may still have limbs, digits, 3
• Most commonly seen at liver dome or CD
j
undersurface of liver other organs
• Look for other calcifications in • Can originate from retroperitoneum, as
peritoneum well as multiple other sites along midline
Helpful Clues for less Common Diagnoses • Fetus-in-Fetu
o Intra-abdominal fetiform mass
• Intraluminal Calcified Meconium
• Classic definition includes spinal
o Calcified, mobile material within bowel
elements due to completion of initial
("marbles")
steps of embryogenesis (vs. teratoma,
o Generally occur in setting of anal atresia
which does not have spine formation)
with associated urinary tract
• Often complex mass with both cystic
fistula/anomalies
and solid components
• Urine mixes with meconium to cause
• Vascular supply typically from superior
calcifications
mesenteric artery
o Additional findings of anal atresia
o Majority reported are in upper
• Absent anal dimple
retroperitoneum
• Dilated bowel (usually only seen in 3rd
• Less commonly in other sites:
trimester, if present)
Intracranial, pelvis, sacrum, liver
• May go undetected prenatally
o Theoretically results from inclusion of a
o Occasionally enteroliths form due to stasis
monochorionic diamniotic twin within
of bowel contents
host twin
o Look for other anomalies in VACTERL
• Grossly resembles acardiac twin in twin
syndrome
reversed arterial perfusion sequence (no
• Vertebral, anal atresia, cardiac,
cranial or cardiac development)
tracheo-esophageal fistula, renal, limb
o Can grow in size during gestation
Helpful Clues for Rare Diagnoses o Follow for evidence of hydrops
• Teratoma o If not detected prenatally, may continue to
o 3 germ cell layers present grow slowly
• Arise from growth of pluripotent stem • Can present as asymptomatic abdominal
cells without organization mass on exam or symptoms from local
• Can have malignant potential mass effect
o In spectrum with fetus-in-fetu • Rare reports of discovery in later
• Fetus-in-fetu classically defined by adolescence and adulthood
presence of spine
Meconium Peritonitis, Pseudocyst Meconium Peritonitis, Pseudocyst
Axial ultrasound shows distended bovvel =:I in the

mid-abdomen. Reallime peristalsis helps distinguish
Coronal ultrasound of the same fetus sho\<vsmore
peritoneal calcificalions E!iI. suggesting remote
6
distended bowel from a pseudocyst. Peritoneal peritoneal spill of bowel contents with subsequent
calcifications are present HI. calcification. Jejunal atresia was confirmed after birth.
19
c: ABDOMINAL CALCIFICATIONS
QI
E
o
'0
.Q
«
Meconium Peritonitis, Pseudocyst Meconium Peritonitis, Pseudocyst
(LefV Axial ultrasound of the
pelvis shows a calcified,
thick-walled cyst E!II and
adjacent dilated bowel •.
This appearance is typical of
pseudocyst formation
following a perforated bowel
obstruction. (RighV
Radiograph of a newborn
shows dense calciFications
~ over the liver, which
represent the sequelae of
meconium peritonitis. There
is nonobstruclive bowel gas
pattern and the infant began
feeding without difficulty.
Gallstones Gallstones
(LefV Axial ultrasound shows
innumerable gallstones =:I in
the fetal gallbladder in the
third trimester, incidentally
seen during a growth scan.
(RighV Axial ultrasound of
the same patient postnatally
showed both mobile slOnes
and non-dependent
echogenic foci in the
gallbladder wall with a
comet tail artifact !lEI. The
appearance is similar to that
of an adult with
adenomyomatosis, but when
seen in a fetus or neonate, it
generally resolves
spontaneously.
Gallstones Hepatic Calcifications

(LefV Axial ultrasound shows
gallslOnes =:I in a partially
contracled gallbladder. If lhe
gallbladder is not dislended
with bile, gallstones may be
mistaken for hepatic
parenchymal calcifications.
(RighV Axial ultrasound
shows multiple echogenic
foci E!II in the felalliver.
Polyhydramnios was also
present. At 22 weeks the
patient had premature
rupture of membranes and
delivered. The fetus expired
shortly after birth. There was
no proven etiology, but
infection was suspected.
6
20
ABDOMINAL CALCIFICATIONS >
C"
Co
o
3
11I
::s
Hepatic Calcifications Intraluminal Calcified Meconium

incidental,
calcilications =
coarse, hepatic
with
acoustic shadowing BI near
the cord insertion. This was
an isolated finding, & the
neonate was normal at birth.
Possible eliologies include
early ischemic episode or
occull bowel perloralion.
(RighI) Axial ultrasound
shows 2 views 01 dilated
bowel BI with multiple
internal/! marbles of
=.
H
calcilied meconium A
vesicocolic fistula and anal
atresia were confirmed
postnatally.
Teratoma Teratoma
a lew calcifications ~ in a
mostly cystic letal abdominal
mass =. Bladder (BL).
(RighI) Sagittal T2WI MR 01
the same fetus shows a
complex, cystic, and solid
mass" in the letal
abdomen. This mass had
multiple osseous structures
on excision, though no
vertebrae. It is therefore
classified as a teratoma
rather than a letus-in-Ietu.
Fetus-in-Fetu Fetus-in-Fetu
(Lefl) Cross pathology
photograph shows an
excised letus-in-Ietu alter
delivery. Note the two
recognizable foot structures
••. (RighI) Axial CECT 01a
neonate shows a large
intra-abdominal mass
containing lat and fluid.
=
Abnormal spine elements
and a gallbladder BI are also
=
present. Surgical excision
confirmed a fetus-in-felU.
6
21
C
Ql LARGE ABDOMINAL CIRCUMFERENCE
E
o
'tJ
.Q
c( DIFFERENTIAL DIAGNOSIS • 3rd trimester phenomenon
o Diabetes
Common • Overall increased size in fetus
• Fetal Overgrowth • Abdominal circumference increase often
o Macrosomia disproportionate
o Diabetes
• Greatest increase in growth velocity in
o Beckwith-Wiedemann Syndrome 3rd trimester
• Bowel Obstruction • Associated polyhydramnios
o Small Bowel Atresia
• Growth acceleration associated with poor
o Volvulus glycemic control, especially in
o Meconium Pseudocyst gestational diabetes, but may also occur
o Meconium Ileus in pre-gestational diabetes
• Urinary Tract Anomalies o Beckwith-Wiedemann Syndrome
o Multicystic Dysplastic Kidneys • Generalized overgrowth
o Autosomal Recessive Polycystic Kidney • Visceromegaly with enlarged kidneys,
Disease (ARPKD) liver, and spleen
o Posterior Urethral Valves
• Omphalocele common
o Urethral Atresia • Macroglossia can be seen prenatally
o Prune Belly Syndrome • Bowel Obstruction
• Hydrops o Small Bowel Atresia
Less Common • One or several loops of dilated bowel,
• Ascites, Massive depending on level of obstruction
• Mesoblastic Nephroma • May be seen as early as the late 2nd
• Hepatomegaly, Splenomegaly trimester
• Hyperperistalsis seen in obstructed loops
Rare but Important
o Volvulus
• Liver Tumors • Multiple loops of dilated bowel may fill
• Lymphangioma abdomen
• No peristalsis if bowel is infarcted
ESSENTIAL INFORMATION • Evaluate presence/absence of anal
dimple: Absence suggests associated
anorectal malformation
• Is there generalized overgrowth, or is o Meconium Pseudocyst
increased size limited to the abdomen? • Large, irregular fluid collection in the
• Is there increased fat deposition? abdomen
• Is there a history of maternal diabetes? • Echogenic "rind"
• Are there dilated loops of bowel or other • Association with in-utero bowel
masses in the abdomen? perforation
• Are the kidneys enlarged or dilated? • Mayor may not be associated with fetal
• Is the bladder of normal size and shape? cystic fibrosis
• Is the amniotic fluid normal? o Meconium Ileus
• Are there other structural anomalies? • Focal area of echogenic bowel may
• Is there associated hydrops or ascites? precede appearance of dilated loops
Helpful Clues for Common Diagnoses • Dilation may be severe
• Fetal Overgrowth • Associated ascites
o Macrosomia • Check for family history of cystic fibrosis
• Generalized increase in size of all • Urinary Tract Anomalies
parameters o Multicystic Dysplastic Kidneys
• Commonly seen in poorly controlled • Enlarged echogenic kidneys with
diabetes, but may be isolated multiple macro cysts of variable sizes
• Associated polyhydramnios • Bilateral or unilateral
6
22
LARGE ABDOMINAL CIRCUMFERENCE ~
cr
D-
o
• Bilateral with anhydramnios is lethal o Cystic hygroma common association 3
CD
::l
o Autosomal Recessive Polycystic Kidney
Disease (ARPKD)
• Ascites, Massive
• Severe end of spectrum usually lethal, o Isolated without other signs of hydrops
with markedly enlarged, echogenic o Poor prognosis for normal outcome
kidneys o Associated bowel or renal abnormalities
• Small chest and anhydramnios with common
worst outcome • Mesoblastic Nephroma
• Gross cysts not seen on prenatal o Large, homogeneous-appearing renal
ultrasound tumor
o Posterior Urethral Valves
o Association with polyhydramnios
• Found only in male fetus o Mass effect on surrounding vessels such as
• Dilated renal pelves may be severe aorta
• Bladder enlarged with "keyhole" shape • Hepatomegaly, Splenomegaly
due to dilated prostatic urethra o Association with edema from hydrops,
• If severe, may be associated with heart failure, intrauterine infection
complete bladder outlet obstruction early o "Speckled" appearance concerning for
in gestation infection
o Urethral Atresia
• Bladder distension massive with Helpful Clues for Rare Diagnoses
anhydramnios an early finding • Liver Tumors
• Male and female fetuses o Associated hepatomegaly
o Prune Belly Syndrome o Cystic/vascular component more
• Triad of abnormal abdominal muscle commonly associated with hemangioma

development, undescended testes, and or hemangioendothelioma
marked bladder distension o Solid tumor more likely to be
• Entire urinary tract dilated, with hepatoblastoma

dramatic ureterectasis and • Lymphangioma
hydronephrosis o Complex lesion with multiple cysts
o Lesions may be superficial or within the
• Hydrops
o Ascites, pleural &/or pericardial effusions, chest or abdomen
and skin edema o Involvement of neck common
o Associated polyhydramnios or
oligohydramnios
Macrosomia Diabetes
Clinical photograph of a IZ Ib IZ oz newborn. Note the

protuberant abdomen and increased subcutaneous fa!.
Coronal ultrasound shows a 33 week fetus with
macrosomia related to poorly controlled maternal type
6
The mother was not diabetic but did a have history of /I diabetes. The obviously enlarged abdomen BI is
delivering large babies. comparable in size to thaI of a 38 week fetus.
23
C
GI
LARGE ABDOMINAL CIRCUMFERENCE
E
o
'0
.Q
«
Beckwith-Wiedemann Syndrome Small Bowel Atresia
the enlarged kidneys lID
seen in a 3rd trimester fetus
with Beckwith-Wiedemann
syndrome. The abdomen
was large when compared to
the other biometric
parameters. (Right) Coronal
ultrasound shows mulliple
loops of dilated bowel lID in
a mid-trimester fetus with a
bowel obstruction due to
multiple atresias.
Small Bowel Atresia Small Bowel Atresia

the enlarged abdomen of a
fetus in the third trimester
with postnatally confirmed
ileal atresia. Note the
bowel =-
markedly dilated loops of
(Right) Clinical
photograph shows the
distended abdomen HI of
the same infant at term. Ileal
atresia was first diagnosed in
the mid-trimester.
Volvulus Volvulus
multiple loops of dilated
bowel lID in a mid-trimester
fetus with a mid-gut volvulus
due to a malrotation, Ascites
Ili'l is also seen between the
bowel loops. (Right) Clinical
massively distended
abdomen HI in the same
preterm infant. Mid-gut
volvulus was confirmed at
surgery.
6
24
LARGE ABDOMINAL CIRCUMFERENCE »
tr
c-
o
3
CD
:l
Meconium Pseudocyst
a large, irregular meconium
pseudocyst in the abdomen
of a mid-trimester fetus. Note
the echogenic rind lEI
around the pseudocyst
shows the markedly
distended abdomen ~ in
the same term infant. Note
the ischemic skin changes
E!ilI and distended vessels
Meconium Ileus
(Leh) Radiograph shows
marked abdominal distention
with multiple loops of dilated
bowel in a newborn with
{ailure to pass meconium.
The in·utero appearance is
often difficult to distinguish
from ileal atresia. Always
check for a family history of
cystic fibrosis. (Right)
Coronal ultrasound shows a
32 week fetus with bilateral
multicystic dysplastic
very large =
kidneys. The kidneys are
with multiple
cysts of varying sizes. The
parenchyma !Ill is dysplastic,
and there is anhydramnios.
Autosomal Recessive Polycystic Kidney Autosomal Recessive Polycystic Kidney

Disease (ARPKD) Disease (ARPKD)
shows bilateral, markedly
enlarged kidneys lEI in a
fetus with ARPKD. Note the
increased medullary
echogenicity E!ilI and
anhydramnios. The infant
died shortly after birth due to
pulmonary hypoplasia.
of a different infant with
ARPKD shows massive
enlargement of the
abdomen. Note the very
small chest E!ilI. There was
severe oligohydramnios in
utero, resulting in pulmonary
hypoplasia.
6
25
I: LARGE ABDOMINAL CIRCUMFERENCE
CD
E
o
't:I
,Q
c(
Posterior Urethral Valves Posterior Urethral Valves

a 3rd trimester male fetus
wilh bilateral hydronephrosis
due to posterior urethral
valves. There is bolh renal
pelvis and calyceal.
dilatation. Minimal residual
renal parenchyma is visible
IIil and is echogenic,
concerning for dysplasia.
(Right) Coronal ullrasound of
the same fetus shows one of
the hydronephrotic kidneys
IE!lI and a distended bladder
•. The typical "keyhole"
appearance PIa represents
the dilated prostatic urethra.
Urethral Atresia Urethral Atresia

a Jrd trimester fetus with
urethral atresia. The bladder
• is massively distended,
and there is associated
anhydramnios. The kidneys
IE!lI are dysplastic due to
long-standing obstruction.
shows the massively
distended abdomen. in
the same prelerm stillborn
infant with urethral atresia.
Vesicocente5i5~ with removal
of 2.5 liters of fluid, was
required in order to effect
vaginal delivery.

shows the lax abdominal
musculature ~ and
undescended testes 11III in
this infant with prune belly
syndrome. The distended
bladder can also be
appreciated aD. (Right)
the thorax and abdomen in a
mid-trimester fetus with
hydrops associated wilh
trisomy 21. The classic
features of hydrops including
ascites Ilil pleural effusions
_ and skin edema IE!lI are
noted.
6
26
LARGE ABDOMINAL CIRCUMFERENCE ;a.
c-
o.
o
3
CD
::I
Ascites, Massive Mesoblastic Nephroma

shows an enlarged abdomen
HI in an early 3rd trimester
fetus with massive ascites
III The etiology of the
ascites was not clear, and no
other evidence of hydrops
was seen. (Right) Coronal
ultrasound shows a fetus
with a large,
homogeneous-appearing
mesoblastic nephroma =.
Note the mass effect on the
aorta~

shows a 22 week fetus with
hepatomegaly III The liver
extends to the fetal pelvis
HI. The liver parenchyma is
somewhat "speckled" in
appearance, concerning for
intrauterine viral infection.
the same fetus confirms
hepatomegaly III The liver
appearance is likely due to
edema with developing
intraparenchymal
calcifications, both features
of infection.
shows a large mass =

that
involves most of the liver.
There are multiple vascular
channels III which showed
flow on color Doppler (not
shown). (Right) Clinical
obvious hepatomegaly, as
demonstrated by the
clinician's finger'" in the
same prelerm inFant with a
massive liver
hemangioendothelioma.
6
27
c: HEPATOMEGALY
CD
E
o
"
.Q
0( DIFFERENTIAL DIAGNOSIS Helpful Clues for Common Diagnoses
Common • Hydrops
• Hydrops o Vascular congestion may cause
o Immune Hydrops hepatomegaly
o Nonimmune Hydrops • May occur before other more obvious
• Infection signs
o Important to recognize and institute
less Common treatment (if possible) before onset of
• Beckwith-Wiedemann Syndrome hydrops, which often portends a poor
• Trisomy 21 outcome
Rare but Important o Immune Hydrops
• Liver Tumors • Maternal antibodies cross placenta and
o Hemangioendothelioma cause lysis of fetal red blood cells, leading
o Mesenchymal Hamartoma to fetal anemia
o Hepatoblastoma • Spleen often also involved
o Leukemia (hepatosplenomegaly) but may be
o Neuroblastoma Metastases difficult to differentiate from liver
• Glycogen Storage Disorder • Hepatosplenomegaly not only from high
cardiac output, but also may be
secondary to extramedullary
ESSENTIAL INFORMATION hematopoiesis in prolonged anemia
Key Differential Diagnosis Issues • Anemia causes an elevated middle
• Is the liver diffusely enlarged or is there a cerebral artery (MCA) peak systolic
focal mass(es)? velocity (PSV)
o Liver occupies a significant portion of the o Nonimmune Hydrops
abdomen so an enlarged abdominal • Multiple causes, most of which have
circumference may be first sign of diffuse obvious other findings
enlargement • Cardiac: Structural or arrhythmia
o If focal mass, consider tumors (except • Fetal masses: Either vascular masses with
leukemia) arteriovenous shunting or masses which
• Cystic mass more likely mesenchymal obstruct venous return
hamartoma • Placental chorioangioma
• Marked vascularity more likely • Aneuploidy
hemangioendothelioma • Twin-twin transfusion syndrome (mS)
• Are there calcifications (in the liver and • Infection
elsewhere) that would suggest infection? o Cytomegalovirus (most common in utero
• Is there organ overgrowth or other obvious infection), toxoplasmosis, parvovirus,
anomalies? varicella, HIV
• Look for signs of hydrops o Look for punctate, non-shadowing
o Hepatomegaly may be one of first signs calcification within liver
before florid hydrops develops • May see calcifications elsewhere: Brain
o Skin/subcutaneous edema (periventricular, cortical), diaphragm,
o Ascites pericardium
o Pleural effusions o Usually other findings also present
o Pericardial effusion • Ventriculomegaly, echogenic bowel,
o Other findings cardiomegaly, growth restriction,
• Placentomegaly (placental thickness> 40 polyhydramnios, hydrops
mm) Helpful Clues for less Common Diagnoses
• Polyhydramnios • Beckwith-Wiedemann Syndrome
o Organomegaly, primarily
hepatosplenomegaly and nephromegaly
6
28
HEPATOMEGALY
o Macroglossia • Hepatoblastoma
o Hemihypertrophy o Malignant, solid, echogenic mass
o Omphalocele rarely o Pseudocapsule around lesion creates
• Trisomy 21 well-defined borders
o Hepatomegaly may be from nonimmune o "Spoke-wheel" appearance described with
hydrops or myeloproliferative disorder alternating hypo- and hyperechoic areas
• Transient myeloproliferative disorder: o Color Doppler shows flow but not as
Variable spectrum of severity vascular as hemangioendotheliomas
• Congenital leukemia: Extensive organ o Calcifications occasionally seen
involvement o Can have spontaneous hemorrhage
o Other markers of trisomy 21 more obvious • Leukemia
o Hepatosplenomegaly most common
finding
• Hemangioendothelioma
• Result of either hydrops or
o Variable appearance: Hypoechoic,
extramedullary hematopoiesis
hyperechoic, or mixed echogenicity
• Neuroblastoma Metastases
o Increased flow on color Doppler
o Most common primary fetal tumor to
• Flow void described on fetal MR
metastasize to liver
o Hydrops common, resulting from two
• Other metastatic fetal tumors
possible etiologies
exceedingly rare
• Arteriovenous shunting
o 25% of neuroblastoma cases have liver
• Kasabach-Merritt sequence: Hemolytic
metastases
anemia, thrombocytopenia, and
o May be either infiltrative or focal
consumptive coagulopathy
o Look for suprarenal mass (primary tumor)
• Mesenchymal Hamartoma
• Solid neuroblastomas are more likely to
o Benign, predominately cystic or mixed
metastasize than cystic ones
echogenicity liver tumor
o Cysts vary in size from a few millimeters to
• Glycogen Storage Disorder
o Gaucher disease (perinatal-lethal subtype)
several centimeters
• Hepatosplenomegaly
• Multiple small cysts may create "swiss
cheese" appearance • Hydrops
• Hypokinesia/arthrogryposis
o Cysts may have internal septations
o Avascular or hypovascular on color
• Ichthyosis
• Facial dysmorphism
Doppler
Pulsed Doppler ultrasound in a 34 week fetus with Rh

incompatibility who had several prior transfusions. The =-
Further imaging in the same fetus shows hepatomegaly
a sign of early hydrops or extramedullary
6
MCA shows a markedly elevated peak systolic velocity hematopoiesis. Given these findings & a nonreassuring
of 109 em/sec. cardiotocogram, the patient was delivered.
29
c: HEPATOMEGALY
CD
E
o
"tl
.Q
«
Nonimmune Hydrops Nonimmune Hydrops
shows an abnormal cardiac
axis and cardiomegaly. The
right atrium (RA) lID is
significantly enlarged
compared to the rest of the
chambers, the result of
pulmonary stenosis and
tricuspid regurgitation. Right
ventricle (RV). (Right)
hepatomegaly =. Tricuspid
regurgitation led to the
hepatic congestion and
enlargement, an early sign of
impending hydrops
(enlarged right atrium E!lI!.
Nonimmune Hydrops Infection

hepatomegaly in the
recipient twin in a TTTS
case. The stomach IE!lI is
compressed by the markedly
enlarged liver. There is also
rim of ascites =-
skin thickening lID and a thin
(Right)
shows hepatomegaly with
hyperechoic foci =
multiple, non-shadowing,
scattered throughout the

liver. This finding is highly
suggestive of infection.

shows macroglossia in a case
of Beckwith-Wiedemann
=
syndrome. The fetal tongue
is enlarged and
persistently protrudes from
the mouth. (Right) Axial
shows the bowe/lE!ll
displaced to the middle of
the spleen and liver =

the abdomen because both
are
enlarged. In addition, there is
a small amount of ascites
(calipers).
6
30
HEPATOMEGALY »
g-
o.
o
3
CD
:l
Hemangioendothelioma Hemangioendothelioma
a massive, heterogeneous
liver mass III. Note several
cystic-appearing areas BI
within this mass. Always use
color Doppler to look for
flow within these areas.
(Right) Gross pathology at
autopsy shows the liver is
grossly enlarged and
completely replaced by a
lobular, vascular mass
Mesenchymal Hamartoma Hepatoblastoma

(Leh) Axial T1WI MR with
contrast shows a
hypointense, multiseptated,
cysUc hepaUc mass in a
newborn. A right upper
quadrant, avascular. cystic
lesion was seen in utero.
Cysts may vary from large, as
in this case, to just a few
millimeters giving the liver a
"swiss cheese" appearance.
shows a large, solid,
well-defined mass" in the
fetal liver. There was only
moderate vascularity. These
findings are typical of
hepatoblastoma.
Neuroblastoma Metastases Neuroblastoma Metastases

hepatomegaly with multiple
subtle lesions Blthroughout
the liver. Other images
showed a solid adrenal mass,
which was the primary
tumor. There was a/50
hydrops (ascites m,J,
polyhydramnios, and
placentomegaly. (Right)
Gross pathology shows the
liver studded with
metastases. Liver metastases
are rare in fetuses but, when
they occur, they are most
commonly (rom
neuroblastoma.
6
31
c:: CYSTIC ABDOMINAL MASS
CIl
E
o
"
.a
<C DIFFERENTIAL DIAGNOSIS • Enlarged Bladder
o Posterior urethral valves most common
Common cause
• Urinary Tract • Look for "keyhole" appearance created by
o Multicystic Dysplastic Kidney (MCDK) the dilated posterior urethra
o Ureteropelvic]unction Obstruction o Prune belly syndrome and urethral atresia
o Enlarged Bladder less common causes
o Urinoma o Hydronephrosis also commonly seen
• Gastrointestinal Tract • Urinoma
o Bowel Atresia
o Spontaneous rupture of the renal
o Meconium Pseudocyst collecting system into retroperitoneum
Less Common o Look for contained fluid collection
• Ovarian Cyst adjacent to obstructed kidney
• Lymphangioma • Bowel Atresia
• Enteric Duplication Cyst o Can occur anywhere along gastrointestinal
tract
Rare but Important
o Has a tubular, "sausage-shaped" appearance
• Choledochal Cyst o Peristalsis within a cystic mass is
• Neuroblastoma pathognomonic
• Fetus-in-Fetu, Teratoma
• Meconium Pseudocyst
• Urachal Anomalies o Wall-off bowel perforation
• Cloacal Malformation, Hydrocolpos o Irregular, thick walls
o Look for other signs of meconium
ESSENTIAL INFORMATION peritonitis
• Intraperitoneal calcifications
• Dilated bowel
• Can the cystic mass be localized to a normal
• Ascites
structure?
o Most abdominal cystic masses are from the Helpful Clues for Less Common Diagnoses
urinary tract • Ovarian Cyst
o Gastrointestinal tract next most common o Top consideration for a unilocular cyst in a
• Is it a simple cyst or a complex cystic mass? 3rd trimester female fetus
o Septations, internal echogenic debris o "Daughter cyst" sign
• What are the wall characteristics? • Small cyst along wall of dominant cyst
o Thin-walled, thick-walled, calcified, "gut • Highly specific (up to 100%) sign for
signature" ovarian origin (82% senSitive)
• Is it constant or does it change appearance o May have occasional septations
during the exam, between exams? o If appearance becomes complex, with
internal echoes, then there is concern for
Helpful Clues for Common Diagnoses torsion
• Multicystic Dysplastic Kidney (MCDK) o Occasionally found in upper abdomen
o Multiple cysts of varying sizes with no
• Supporting ligaments are lax, allowing
discernible renal parenchyma for displacement
o Reniform shape is lost
o May occasionally be bilateral
o Variable in utero course: May involute,
• Lymphangioma
remain stable, or grow o Thin-walled cystic mass
o May be massive and cross midline
o May be unilocular or multilocular, with
• Ureteropelvic Junction Obstruction one or multiple septations
o May present as large cyst if severe
o Can be very complex, insinuating around
obstruction organs and extending out of abdomen
o Look for communication with dilated o Variable echogenicity of fluid, but usually
calyces anechoic
6
32
CYSTIC ABDOMINAL MASS ;a.
c-
D.
o
Majority reported in upper 3
• Enteric Duplication Cyst o C1l
::::l
o Solitary, thick-walled cyst retroperitoneum
o Look for "gut signature" o Fetus-in-fetu theoretically result of
• Layered appearance with echogenic inclusion of a monochorionic diamniotic
mucosa, hypoechoic muscular layer, twin within a host twin
echogenic serosa • Urachal Anomalies
• Often difficult to see in utero o Includes cysts and patent urachus
o Rarely bowel dilatation from obstruction o Communication with bladder confirms
patent urachus
o Bladder may appear elongated with a
• Choledochal Cyst figure 8 or "waisted" configuration
o Cystic dilatation of extrahepatic &/or
o May extend into base of umbilical cord
intrahepatic bile ducts
• Associated with allantoic cord cysts
o Unilocular, simple, right upper quadrant
o May resolve as gestation progresses
cyst is most common presentation in fetus
• Cloacal Malformation, Hydrocolpos
• Round in axial plane and fusiform in
o Persistent cloaca
longitudinal plane
• Failure of urorectal septum to reach
o Following bile ducts into cyst confirms
perineum
diagnosis
• Seen in female fetuses
• Neuroblastoma
• Results in single perineal opening for
o Arises from adrenal gland
urine, genital secretions, and meconium
o Approximately 50% are cystic
• Bladder, vagina, and rectum may all
o Complex appearance with thick septations
communicate in utero
o Cystic neuroblastoma has an excellent
o Variable presentation
prognosis
• Cystic mass in pelvis
• Dilated pelvic bowel loops; may see
o Overlapping features between these two
enteroliths from mixing of meconium
entities
and urine
• Fetus-in-fetu more developed and must
• Hydronephrosis and lumbosacral
have spinal elements
anomalies may also be present
o Complex, with a large solid component
• Abnormal genitalia with lack of normal
encapsulated within a cyst
labial/clitoral formation
o Calcifications, including well-formed
• Ascites reported in some cases
bones, most specific finding
Multicystic Dysplastic Kidney (MCDK)
Coronal oblique ultrasound shows that the left kidney

=
Axial ultrasound shows a cystic mass filling the fetal
6
IS enlarged and cystic, consistent with a MCDK.
Most abdominal cystic masses ;n the fetus are related to
the urinary Yael.
appearance. Only one normal kidney
is the key to the diagnosis.
=
abdomen. When large, a MCDK can have a confusing
is seen, which
33
C
Gl CYSTIC ABDOMINAL MASS
E
o
"0
..Q
c(
Ureteropelvic Junction Obstruction Ureteropelvic Junction Obstruction

shows classic bilateral
ureteropelvic junction
obstruction BI in a 2nd
trimester fetus. (Right) Axial
in the 3rd trimester shows
dramatic progressionl with
massive left renal pelvis
distention (calipers). When
presenting late, this
appearance may be
confusing. Careful scanning
may show dilated calyces.
Enlarged Bladder Urinoma

ultrasound shows marked
distention of the bladder BI
in this male fetus with
posterior urethral valves.
shows a fetus with bilateral
UP! obstruction E!il There
was a unilateral collecting
system rupture, partially
decompressing the left
collecting system. Urine is
space =-
collecting in the perirenal
Note how the
fluid is surrounding and
compressing the kidney,
classic features of a urinoma.
Meconium Pseudocyst
=
shows a tubular, cystic mass
in a fetus with jejunal
atresia. Seeing peristalsis
confirms a cystic mass is
bowel. (Right) Axial
ultrasound shows a dilated
loop of bowel m
filled with
echogenic material. There
has been an in utero
perforation with (ormation of
a large, irregular,
thick-walled meconium
pseudocyst =.
6
34
CYSTIC ABDOMINAL MASS »
c-
D.
o
3
CD
::l
Meconium Pseudocyst Ovarian Cyst

=
a large, irregular cystic mass
Note the thick,
echogenic walls. Surgery
confirmed an ileal atresia
with perforation,
complicated by meconium
peritonitis and pseudocyst
formation. Pseudocysts will
often have an irregular.
angular contour. (Right)
Coronal ultrasound in a
female fetus shows a large
cyst =::I above the bladder
HI. Note the small
"daughter cyst" I!lII along the
wall. This sign is highly
specific for an ovarian cyst.
Ovarian Cyst
a 3rd trimester female fetus
=
shows bilateral, simple pelvic
cysts
confirmed
These were
to be ovarian
cysts. Most ovarian cysts
regress by 6 months of age.
=
ultrasound shows a septation
within a thin-walled
abdominal cyst. The cyst is
insinuated between the liver
HI and colon The
appearance of mesenteric
lymphangiomas is quite
variable, ranging from a
unilocular cyst to a large
complex mass.
Enteric Duplication Cyst Enteric Duplication Cyst
a thick-walled cyst =
within
the peritoneal cavity. Careful
evaluation of the cyst wall
should be done looking for a
layered appearance ("gut
signature"), but this is often
difficult in the fetus. (Right)
Photograph of the resected
ileum shows the thick-walled
cyst = Note how the
intestinal/umen is narrowed.
Duplication cysts can
occasionally present with
bowel obstruction.
6
35
r:: CYSTIC ABDOMINAL MASS
Gl
E
o
"
J:J
«
Choledochal Cyst Choledochal Cyst
a choledochal cyst III
located adjacent to the
gallbladder PJa A small bile
duCl is seen entering the
cyst. (Right) Coronal oblique
ultrasound in a different
patient shows the bile ducts
Ell exiting the liver and
entering the dilated common
bile duct III. Fusiform
dilatation is the most
common fetal presentation
of a choledochal cyst.
Showing bile ducts entering
a right upper quadrant cyst
confirms the diagnosis.
Choledochal Cyst Neuroblastoma

photograph shows a large
choledochal cyst IlIll
adjacent to the gallbladder
III. (Right) Coronal
ultrasound of a cystic
neuroblastoma shows a
complex cystic mass III with
thick septations, above the
kidney BI. The majority of
fetal neuroblastomas arise
from the adrenal gland, so
location is the key to making
the proper diagnosis.
Fetus-in-Fetu, Teratoma Fetus-in-Fetu, Teratoma

a cystic mass = with a
large, central, solid
component 1lIll.
Calcifications were also
present. Resection after
delivery showed a teratoma.
(Right) CECT in a newborn
shows a complex mass
within the left upper
=
quadrant containing fluid
fatPJaanda
well-differentiated spine BI.
This meels the criteria for a
fetus-in-fetu, which may
result from an aberration in
twinning.
6
36
CYSTIC ABDOMINAL MASS l>
c-
o.
o
3
(l)
::I
Urachal Anomalies Urachal Anomalies

configu,ation of the bladde,
balloons out =
ElII: It narrows and then
as it extends
up toward the umbilicus.
This appearance is typical for
a patent urachus. (Right)
Voiding cystourethrogram in
bladder =
a different patient shows the
in direct
continuity superiorly with the
patent urachus 11II.
Urachal Anomalies Urachal Anomalies

newborn with a patent
urachus shows the bladder
= communicating with
urachus HI. Note how, on
the post-void image
(bollom), the urachus
expands as the bladder
decompresses. This explains
the changing appearance
that can be seen in utero.
(Right) Intra-operative
photograph shows an
allantoic cyst within the
base of the umbilical cord.
The cyst is filled with urine
and communicates with the
bladder via a patent urachus.
Cloacal Malformation, Hydrocolpos Cloacal Malformation, Hydrocolpos

the bladder III being
compressed by a large cystic
mass, both of which have a
. fluid-debris level ElII. A
persistent cloaca allows
communication between the
rectum, vagina, and bladder.
(Right) Lateralpre-operative
contrast study shows filling
of the urethra bladder
ElIl vagina IlI1 and rectum
ffi all communicating with
the cloaca which opens
onto the perineum
single orifice. The BB
as a
marks the expected location

=
of the anal sphincter.
6
37
c: SOLID ABDOMINAL MASS
Gl
E
o
'0
.0
0( DIFFERENTIAL DIAGNOSIS • Mesoblastic Nephroma
o Large, solid renal mass
Common o Look for mass being fed by renal artery
• Bronchopulmonary Sequestration o Polyhydramnios in '" 70%, often severe
• Mesoblastic Nephroma
Less Common • Neuroblastoma
• Neuroblastoma o May be solid or cystic
Rare but Important 060% on right
• Fetus-in-Fetu, Teratoma o Separate from kidney & adrenal
• Liver Tumors o No dominant feeding vessel
o Usually not seen until 3rd trimester
ESSENTIAL INFORMATION Helpful Clues for Rare Diagnoses

Key Differential Diagnosis Issues o Overlapping features between these two
• Key to diagnosis is careful anatomic survey entities
to determine origin • Fetus-in-fetu more developed & must
o Kidney, adrenal, liver, not within a defined have spinal elements
organ o Usually not completely solid
• Color Doppler assessment important • May have large, solid component
o Patterns of perfusion are different encapsulated within a cyst
o Solid masses often have increased o Calcifications, including well-formed
vascularity that can result in arteriovenous bones, most specific finding
shunting & hydrops o Superior mesenteric artery is predominant
Helpful Clues for Common Diagnoses vascular supply
• Bronchopulmonary Sequestration • Liver Tumors
o 10-15% subdiaphragmatic o Generally large, causing hepatomegaly &
o Majority left-sided, with stomach displaced increased abdominal circumference
anteriorly o Hemangioendothelioma most common
o Typically an echogenic, solid mass, but • Large vessels within mass
may see cystic areas • Follow carefully for development of
o Look for dominant feeding vessel from hydrops
aorta o Hepatoblastoma, leukemic infiltration, &
o Usually presents in 2nd trimester metastases may also appear as solid masses
6 Axial ultrasound in a 2nd trimester fetus shows a smal/,

solid, echogenic mass fcalipers) posterior to the
Coronal power Doppler ultrasound shows two large
vesselslllll perfusing a suprarenal mass HI (kidney 1Ja).
stomach 1Iil. Identifying the vascular supply is important for making
the correct diagnosis.
38
SOLID ABDOMINAL MASS »
c-
o.
o
3
CD
;J
Mesoblastic Nephroma Mesoblastic Nephroma

(Left) 5agittal color Doppler
umbilical vein =:I and artery
61 splayed around a solid
abdominal mass. The mass
was being supplied by the
renal artery III. There was
also polyhydramnios, which
is often a prominent feature.
a different case shows a
=-
large, solid abdominal mass
which extends down to
the bladder 61. No kidney
could be identified on that
side. Postnatal excision
confirmed a mesoblastic
nephroma.
Neuroblastoma Neuroblastoma
shows a solid, echogenic
mass (calipers) superior to
the right kidney III. Note the
mass effect that it exerts on
the upper pole of the kidney.
No dominant perfusing
vessel was identified. (Right)
case shows the adrenal mass
compressing the upper pole
of the kidney. Histology
confirmed a neuroblastoma,
which was confined to the
adrenal gland.
Fetus-in-Fetu, Teratoma Liver Tumors

ultrasound shows a large,
complex mass =:I within the
fetal abdomen, which
contains a well-formed bone
61. (Right) Axial T2WI MR
shows a large, solid mass =:I
involving the left lobe of the
liver. It is higher in signal
than the normal liver 61.
This is a large
hemangioendothelioma. The
infant is being treated
conservatively and is doing
well.
6
39
C MilD PElVIECTASIS
Gl
E
o
'0
J:I
c( DIFFERENTIAL DIAGNOSIS o Look for other anomalies
• Trisomy 21 (T21)
Common o 1.6x t risk for T21 when finding present
• Normal, Idiopathic • Compare with maternal a priori risk
• Trisomy 21 (T21) o Look for other T21 markers
• Ureteropelvic Junction Obstruction, Early • Increased nuchal fold
less Common • Echogenic bowel
• Duplicated Collecting System • Short femur/humerus
• Echogenic intracardiac focus
• Ureteropelvic Junction Obstruction, Early
ESSENTIAL INFORMATION o MP can be first sign of ureteropelvic
Key Differential Diagnosis Issues junction (UP]) obstruction
• Routine renal views • Unilateral or asymmetric MP
o Axial at level of renal pelvis o Findings
• Measure anterior-posterior renal pelvis • Progressively t RPD
diameter (RPD) • Calyceal dilatation
o Longitudinal (sagittal or coronal) • Dilatation ends abruptly at UP]
• Best for renal morphology Helpful Clues for less Common Diagnoses
• Look for calyx distention • Duplicated Collecting System
• Look for ureter distention o Separate upper pole and lower pole
o Use color Doppler to identify renal arteries collecting systems
• Helpful for small or absent kidneys o Variable amount of duplication
• Definition of mild pelviectasis (MP) • Partial: 2 renal pelves fuse proximally
o RPD on axial view • Complete: 2 separate full ureters
• > 4 mm at 14-22 wks o Weigert-Meyer rule
• > 5 mm at 22-32 wks • Upper pole with ectopic ureter or
• > 7 mm after 32 wks ureterocele
o RPD should be < 1/3 renal diameter • Ectopic ureter inserts inferior to trigone
o No calyx or ureter distention • Lower pole with reflux
Helpful Clues for Common Diagnoses Other Essential Information
• Normal, Idiopathic • Isolated MP, maternal age, and aneuploidy
o 3% of normal fetuses have MP o < 36 yo; 1:303 risk for aneuploidy (0.33%)
o Often resolves in utero o > 36 yo; 1:45 risk for aneuploidy (2.2%)
Normal, Idiopathic Normal, Idiopathic

..
,. L .$.,.;. •..•.
• ~ _ .• 1- -
" •. . RT1-
• :"~.I! _ 2
.•.••. -,ii/1 ".,..,..1.
..•
....•..
I
~-.:-,~..;,,;;..
'
•
~ ... . ..
~ Dist
----1----
= 0.47cm
_~ ....•. ----2---- .•
••• :::•• Dist
-,~ -..•.•.. = O.58cm
6 Axial ultrasound of the renal pelvis diameters shows

mild pelviectasis in this 18 week fetus. The finding was
Coronal ultrasound shows renal pelvis distention
Otherwise normal kidney morphology BI is seen wel/
=-
isolatedand resolved on fol/ow-up. on this coronal view Note the lack of calyx and ureter
distention.
40
MILD PELVIECTASIS >
cr
Co
o
3
lD
j
Trisomy 21 (T21)
distention =-
bilateral mild renal pelvis
(Right) Axial
hearl, in the same case,
shows a large atrioventricular
septal defect 1IllI. The fetus
also had clinodactyly and
sandal gap foot deformity.
The mild pelviectasis, hand,
and foot findings are
considered minor markers
for T2 /, while the
atrioventricular septal is a
major cardiac defect, also
associated with T2/.
Ureteropelvic Junction Obstruction, Ureteropelvic Junction Obstruction,

Early Early
fLeft) Axial ultrasound of a
3rd trimester fetus shows
bilateral renal pelvis
distention without significant
calyceal distention. Postnatal
ultrasound was
recommended. (Right)
Coronal ultrasound of the
same fetus as a neonate
shows progressive
pelvis=
hydronephrosis. The renal
is markedly
distended, and there is an
abrupt narrowing at the UP!
~ Moderate calyceal
distention is also present Eill
UP! obstruction often initially
presents as mild pelviectasis.
Duplicated Collecting System Duplicated Collecting System

shows a distended upper
pole renal pelvis IIIl Notice
the large amount of lower
renal tissue iii that is not
drained by the upper pole
collecting system. (Right)
Sagittal oblique ultrasound in
another fetus shows a
distended lower moiety ~
of the left kidney. The
stomach 11:I is also seen.
While upper pole distention
is more common, isolated
lower pole MP can be seen
with duplicated kidneys. The
lower pole system is more
prone to reflux.
6
41
C
GI FETAL HYDRONEPHROSIS
E
o
'a
..a DIFFERENTIAL DIAGNOSIS • 25% contralateral renal anomaly
< • 10% non-genitourinary anomaly
Common o Etiology
• Ureteropelvic Junction Obstruction • Accessory crossing vessel in 1/3
• Posterior Urethral Valves (PUV) • Abnormal muscle layer at UP)
Less Common • Abnormal neural innervation at UP)
• Duplicated Collecting System with • Posterior Urethral Valves (PUV)
Obstruction o Obstructive posterior urethral membrane
• Ureterovesicle Junction Obstruction • Acts as valves
• Ureterocele • Partial or complete obstruction
• Vesicoureteral Reflux • Seen in male fetuses only
o "Keyhole" bladder is hallmark finding
Rare but Important
• Distended bladder + distended posterior
• Prune Belly Syndrome urethra
• Bladder wall often thick
ESSENTIAL INFORMATION • Bladder may be massive
o Variable hydronephrosis/hydroureter
Key Differential Diagnosis Issues o Variable oligohydramnios
• Renal pelvis diameter (RPD) distention • Partial vs. complete obstruction
o Obtain mid renal axial view
• Renal functioning ability
• Measure anterior-posterior RPD • Pulmonary hypoplasia if severe/early
o Abnormal RPD measurements
o Associated anomalies in 43%
• > 3 mm in first trimester
• VACTERLassociation
• > 4 mm at 14-22 wks • Cardiac malformations
• > 5 mm at 22-32 wks
• > 7 mm after 32 wks Helpful Clues for Less Common Diagnoses
• RPD > 1/3 renal diameter • Duplicated Collecting System with
o Use coronal and sagittal views Obstruction
• Rule out calyceal/ureteral distention o Duplicated renal parenchyma
• Evaluate collecting system methodically to • Separate upper and lower pole moieties
determine point of obstruction o Variable collecting system duplication
o Pelviectasis • Complete = 2 separate ureters
• t Renal pelvis only (normal calyces) o Upper pole drained by ectopic ureter
o Hydronephrosis • Ectopic ureterocele at distal end
• t Renal pelvis + caliectasis • Upper pole ureter inserts inferior and
o Hydroureter medial to lower pole ureter
• Hydronephrosis + dilated ureter (Weigert-Meyer rule)
o Persistent bladder distention • Upper moiety hydronephrosis common
o Urethra distention o Lower pole ureter refluxes
• Best seen on sagittal view • Milder lower moiety hydronephrosis
• Ureterovesicle Junction Obstruction
Helpful Clues for Common Diagnoses o Primary mega ureter
• Ureteropelvic Junction Obstruction o Congenital stenosis at ureterovesicle
o Hydronephrosis without ureter distention
junction (UVJ)
• Partial or complete obstruction • Hypoplasia/atrophy muscle fibers
• Paucity of ganglion cells
• t Renal pelvis ends abruptly at
o Prenatal ultrasound clue
ureteropelvic junction (UP)) • Hydroureter without ureterocele or
• "Bullet-shaped" renal pelvis duplication
• Distended calyces o Differential diagnosis
o Associated anomalies
• Vesicoureteral reflux
• 10% bilateral UP) • Non-visualized ureterocele
6
42
FETAL HYDRONEPHROSIS »
c-
D.
o
3
• Ureterocele Helpful Clues for Rare Diagnoses ~
j
o Cystic dilatation of distal submucosal
• Prune Belly Syndrome
ureter at bladder insertion o Three defining features
• Partial or complete obstruction • Dramatic collecting system dilatation
• Bilateral in 10% • Deficient abdominal musculature
o Prenatal ultrasound findings • Cryptorchidism
• Anechoic, thin-walled cyst in bladder o Prenatal ultrasound findings
• Distended ureter "balloons" into bladder • Large, thin-walled bladder
• Associated hydroureter + hydronephrosis • Bilateral hydroureter and hydronephrosis
o Orthotopic vs. ectopic ureterocele
• Ureter often markedly tortuous
• Orthotopic associated with single • Diffuse urethral dilatation (no "keyhole")
collecting system • No obvious point of obstruction
• Ectopic associated with renal duplication • ± Oligohydramnios
• Ectopic 3x more common o Very difficult to differentiate from PUV
• Vesicoureteral Reflux
o Retrograde flow of urine Other Essential Information
• Bladder ~ ureter or kidney • Pitfalls
o Ultrasound findings o Renal pyramids may mimic caliectasis
• Variable/intermittent hydronephrosis o Distended calyces may mimic renal cysts
• t Dilatation immediately after voiding • Look for connection with renal pelvis
o Definitive diagnosis made after delivery o Ureteroceles may prolapse in and out of
• Voiding cystourethrography (VCUG) bladder
• Nuclear cystography o Large ureteroceles may fill entire bladder
o Grading system and can be missed
• I: Reflux into ureter only • Especially true after fetal voiding when
• II: Reflux reaches pelvis (normal calyces) bladder collapses around ureterocele
• Ill: Mild caliceal blunting • Look for secondary renal cystic dysplasia
• IV: Progressive caliceal dilatation o Hydronephrosis + renal cysts
• V: Dilated tortuous collecting system o Suggests significant renal damage
with severe caliceal dilatation o Can mimic multi cystic renal dysplasia
o 80% outgrow reflux • Obstruction can decompress spontaneously
o Surgical treatment for persistent reflux o Urinary ascites
• Ureteral reimplantation o Urinoma
• Endoscopic periureteral injection
Ureteropelvic Junction Obstruction Ureteropelvic Junction Obstruction
Sagittal ultrasound shows renal pelvis = and calyceal

Ell dilatation in a 2nd trimester fetus. The renal pelvis is
Coronal CECT of a child with a UPj obstruction shows a
crossing vessel BE at the level of the UPj, causing the
6
"bullet-shaped" as the distention ends abruptly at the massive dilatation of the 'eft renal pelvis I!Il Crossing
UPj=. vessels can be arteries or veins.
43
C
QI FETAL HYDRONEPHROSIS
E
o
't:l
,g
<
Posterior Urethral Valves (PUV) Posterior Urethral Valves (PUV)
shows a markedly distended
bladder. as well as
bilateral hydroureters Ea and
a distended urethra
Focal dilatation of the distal
posterior urethra IIIlIsuggests
the bladder outlet
obstruction is from posterior
urethral valves. (Right)
Sagittal oblique radiograph
during a VCUC in another
case shows a distended
posterior urethra =
secondary to posterior
urethral valves. Although
subtle, bladder wall
thickening is also seen Ea.
Duplicated Collecting System with Duplicated Collecting System with

Obstruction Obstruction
ultrasound shows an
obstructed upper pole
collecting system PllD. The
ureter = associated with the
upper pole is markedly
dilated and tortuous. (Right)
Coronal color Doppler
ultrasound of the UVj in the
same fetus shows a
ureterocele. The distal part of
the distended ureter IIIlI
balloons into the bladder Ea.
The eccopic ureterocele
associated with the upper
pole moiety is the cause of
the obstruction.
Ureteroveside Junction Obstruction Ureteroveside Junction Obstruction

shows a single renal
collecting system IIIlI and a
distended ureter Ea
extending CO the bladder 1!lIl.
the same case, focusing on
the UVj, shows focal
=
narrowing of the distal ureter
There is no ureterocele
or renal duplication in this
case. Reflux is also within the
differential, but was ruled
out on postnatal evaluation.
6
44
FETAL HYDRONEPHROSIS »
cr
Q.
o
3
CD
::l
Ureterocele Ureterocele
shows a non-duplicated,
hydronephrotic kidney
with ureteral dilatation ~
=
and a focal 'cystic"
distention at the UVj BII.
focused on the partially filled
b~dder~showsthe
distended distal ureter lID
"ballooning" Ea into the
bladder. This is an example
of an orthotopic ureterocele,
not associated with
duplication.
Vesicoureteral Reflux Vesicoureteral Reflux

a neonate with prenatal
diagnosis of hydronephrosis
confirms calyceal = and
renal pelvis ~ distention.
Immediately after the
ultrasound, a VCUG was
performed. (Right) Coronal
radiograph of the VCUG,
obtained immediately after
reflux. The ureter =

voiding, shows significant
is
distended and tortuous. The
renal pelvis and calyces ~
are markedly dilated as well.
Prune Belly Syndrome Prune Belly Syndrome
a large bladder =
hydronephrosis E!Il
and
Although similar to PUll, the

postnatal diagnosis was
prune belly syndrome.
ultrasound of the bladder
and penis in another case
shows a vesica-amniotic
shunt catheter = placed for
what was thought to be
obstruction from Puv.
However, color Doppler at
the tip of the penis shows
that the baby is urinating
easily IIll. Finaldiagnosis
was prune belly syndrome.
6
45
c: RENALENLARGEMENT
Gl
E
o
"
.a
<C DIFFERENTIAL DIAGNOSIS • Autosomal Recessive Polycystic Kidney
Disease (ARPKD)
Common o Renal enlargement may not occur until
• Multicystic Dysplastic Kidney (MCDK) mid 2nd trimester but is often progressive
• Autosomal Recessive Polycystic Kidney later in pregnancy
Disease (ARPKD) o Normal hypoechoic cortex may be present
Less Common • Look for thin hypoechoic rim around
• Duplicated Collecting System echogenic medulla
• Crossed Fused Ectopia o Kidneys are diffusely hyperechoic in severe
disease
Rare but Important
o Asymmetric involvement occurs
• Meckel-Gruber Syndrome
o Small macroscopic cysts may be seen
• Beckwith-Wiedemann Syndrome
o Oligohydramnios variable depending on
• Mesoblastic Nephroma severity of renal involvement
• Compensatory Hypertrophy from Unilateral
• Early onset oligohydramnios - poor
Renal Agenesis
prognosis
o Autosomal recessive, with 25% recurrence
ESSENTIAL INFORMATION risk
Key Differential Diagnosis Issues Helpful Clues for Less Common Diagnoses
• If subjectively large, measure renal length • Duplicated Collecting System
and compare to nomograms o Upper and lower pole moieties separated
• Ratio of renal circumference to abdominal by band of renal parenchyma
circumference ranges from 0.27-0.30 • Two separate ureters drain upper and
o Ratio remains stable throughout lower poles
pregnancy o Asymmetric renal size
• Are one or both kidneys enlarged? • Affected kidney larger than contralateral
o Bilateral disease may be asymmetric side (unless both are duplicated)
• Are there other anomalies? • Unilateral renal enlargement may be
only clue that duplication is present
o Upper pole drained by ectopic ureter
• Multicystic Dysplastic Kidney (MCDK) • Ectopic ureter inserts inferior and medial
o Multiple, variable-sized cysts in renal fossa
to normotopic ureter (Weigert-Meyer
o Renal length > 95th percentile in 90% of
rule)
cases • Look for ureterocele in bladder
• May be massive and cross midline • Prone to obstruction
o Reniform shape is lost
o Lower pole drained by normotopic ureter
o Normal renal parenchyma not discernible
• Prone to reflux
o Unilateral in 80%
• Crossed Fused Ectopia
• Contralateral renal anomaly in 40%: o One empty renal fossa
Vesicoureteric reflux (most common), o Ectopic kidney crossed to opposite side
ureteropelvic junction obstruction, renal • Creates a large, bilobed kidney
agenesis or hypoplasia • May appear as a pelvic mass
• Usually normal amniotic fluid unless o Left crosses to right more often
there is a significant contralateral
• 95% fused, 5% un fused
abnormality
• Variable in utero course with some Helpful Clues for Rare Diagnoses
involuting and others increasing in size • Meckel-Gruber Syndrome
o Bilateral in 20% o Triad of classic findings (2 findings
• Anhydramnios required for diagnosis)
• Lethal anomaly secondary to pulmonary • Renal cystic dysplasia most consistent
hypoplasia finding, present in 95-100%
• Encephalocele in 60-80%
6
46
RENAL ENLARGEMENT »
cr
Q.
o
Vascular on Doppler imaging 3
• Postaxial polydactyly in 55-75% o Cl)
::r
o Renal involvement has variable o Hydrops may occur with significant
appearance but often severe arteriovenous shunting or from
• Grossly enlarged, echogenic kidneys obstruction of venous return
most common • Compensatory Hypertrophy from
• May have macroscopic cysts Unilateral Renal Agenesis
• 10-20x normal size, with enlarged o One empty renal fossa
abdominal circumference o Normal kidney compensates for absent
• Bladder may be small or absent kidney
• Oligohydramnios common and often • Size> 95th percentile
severe • Seen in 44% of cases, as early as 22 weeks
o Autosomal recessive, with 25% recurrence o Fetal adrenal gland is a potential pitfall in
risk diagnosis
• Beckwith-Wiedemann Syndrome • Fetal adrenal is large and easily mistaken
o Fetal macrosomia with organomegaly for a kidney, especially in 1st and 2nd
o Kidneys frequently involved trimester
• Renal size enlarged but normal • In renal agenesis, the adrenal has a
echogenicity and morphology flattened, discoid, "lying down"
o Other prenatal findings appearance
• Macroglossia Alternative Differential Approaches
• Omphalocele • Bilateral renal enlargement
• Hepatosplenomegaly. o Autosomal recessive polycystic kidney
• Hemihypertrophy disease
o Definitive diagnosis may not be made
o Meckel-Gruber syndrome
until after delivery o Beckwith-Wiedemann syndrome
• Mesoblastic Nephroma o Multicystic dysplastic kidneys (in 20%)
o Benign mesenchymal renal tumor
• Unilateral renal enlargement
o Solid renal mass on ultrasound
o Multicystic dysplastic kidney
• Iso- to slightly hyperechoic compared to o Duplicated collecting system
normal renal parenchyma o Mesoblastic nephroma
• May rarely have cystic areas o Compensatory hypertrophy from
o May be very large and increase abdominal
unilateral renal agenesis
circumference
o Polyhydramnios in ""70%, often severe
Multicystic Dysplastic Kidney (MCDK)
Axial ullrasound shows a large, complex mass = with

multiple cysts of varying sizes. It has lost its reniform
Gross pathology from a different case shows a MCDK
Note the mulUple cysts of varying size, with no
6
shape and is ex/ending across the midline. The spine EillI discernible renal parenchyma. MCDK can become
is noted. quite large, enlarging the abdominal circumference.
47
c: RENAL ENLARGEMENT
Gl
E
o
'0
.a
<
Multicystic Dysplastic Kidney (MCDK) Disease (ARPKD)
=
shows bilateral, large kidneys
with multiple
macroscopic cysts. There is
also anhydramnios. When
bilateral, MCDK is a lethal
malformation. (Right)
bilaterally enlarged,
echogenic kidneys =
distending the abdomen.
Note how small the chest EiI
appears in comparison.
There are scattered, small
macroscopic cysts, but the
appearance is significantly
different from that of bilateral
MCDKs.

bilateral, enlarged,
echogenic kidneys.:ll. In
this case, they are
asymmetric in size, which is
a variable presentation of
ARPKD. Renal enlargement
progresses throughout
pregnancy. (Right) Gross
pathology from an autopsy
shows grossly enlarged
kidneys EiI in a case of
ARPKD. This fetus had
severe oligohydramnios in
utero and died of pulmonary
hypoplasia.
Duplicated Collecting System Crossed Fused Ectopia

shows a moderately enlarged
kidney (calipers) with
hydronephrosis of the upper
pole =. This is typical of a
duplicated collecting system
with upper pole obstruction.
The bladder should be
evaluated for an ectopic
ureterocele. (Right) Axial
oblique ultrasound shows
crossed fused renal ectopia.
The left and right kidneys are
fused and form a bilobed
single kidney" The
ectopic crossed kidney may
appear as a midline mass.
6
48
RENAL ENLARGEMENT >
c-
o.
o
3
ell
:l
Meckel-Gruber Syndrome Beckwith-Wiedemann Syndrome

shows dramatic renal
enlargement (calipers),
distending the abdomen
(compare to chest BiI). The
=
appearance is similar to
ARPKD, but polydactyly &
an encephalocele were also
present, which are typical
fealures of Meckel-Gruber
ultrasound shows bilateral
enlargement =
but slightly asymmetric renal
in this fetus
with Beckwith-Wiedemann
syndrome. Note that renal
echogenicity & contour are
preserved.
Mesoblastic Nephroma Mesoblastic Nephroma

a large, unilateral,
predominately solid mass
=. (Right) Coronal color
same mass 1m shows
displacement of the aorta
1:1. The mass is supplied by
the renal artery Bl
confirming the mass is renal
in origin. Polyhydramnios
was also present, a common
associated finding with
mesoblastic nephroma.
Compensatory Hypertrophy from Compensatory Hypertrophy from

Unilateral Renal Agenesis Unilateral Renal Agenesis
ultrasound shows an absent
right kidney with a "lying
down" adrenal gland BiI in
the right renal fossa. There is
a left renal artery" but
none is seen on the right.
focused on the solitary left
kidney shows a large, but
morphologically normal,
kidney (calipers). Average
renal length at 35 weeks
gestation is 3.3 em. This is
compensatory hypertrophy
in the setting of unilateral
renal agenesis.
6
49
c: ECHOGENIC KIDNEYS
Gl
E
"0
o
.Q
DIFFERENTIAL DIAGNOSIS o Cortical echogenicity often increased from
« microscopic cysts
Common o Macroscopic cortical cysts usually present,
• Autosomal Recessive Polycystic Kidney but occasionally, kidneys will be appear
Disease (ARPKD) small and echogenic
• Obstructive Cystic Dysplasia
Less Common • Trisomy 13
• Trisomy 13 o Cystic dysplasia seen in 50%
• Meckel-Gruber Syndrome • Kidneys usually echo genic and enlarged;
cysts may be visible
ESSENTIAL INFORMATION o Multiple major anomalies in > 90%
• Brain/face: Holoprosencephaly, cyclopia,
Key Differential Diagnosis Issues proboscis, hypotelorism, midline or
• Are there other anomalies? bilateral cleft lip
o Trisomy 13 and Meckel-Gruber syndrome • Body: Postaxial polydactyly, cardiac
have anomalies in addition to the kidneys defects, intrauterine growth restriction
Helpful Clues for Common Diagnoses • Meckel-Gruber Syndrome
• Autosomal Recessive Polycystic Kidney o Triad of findings (2 findings required for
Disease (ARPKD) diagnosis)
o Echogenic, large kidneys • Renal cystic dysplasia most consistent
o Normal hypoechoic cortex may be present finding, present in 95-100%
• Look for thin, hypo echoic rim around • Encephalocele in 60-80%
echogenic medulla • Postaxial polydactyly in 55-75%
o Diffusely hyperechoic in severe disease o Renal involvement has variable
o May see small, scattered macroscopic cysts appearance, but often severe
o Oligohydramnios variable depending on • Grossly enlarged, echo genic kidneys
severity of renal involvement most common
• Early onset oligohydramnios ...•poor • May have macroscopic cysts
prognosis • Oligohydramnios common and often
• Obstructive Cystic Dysplasia severe
o Chronic obstruction disrupts normal • Appearance may be identical ARPKDso
nephron tubular induction important to look for associated findings

6 =
Coronal ultrasound shows bilateral, enlarged echogenic Axial ultrasound in a 36 week fetus with ARPKD shows
50
kidneys in a second trimester fetus with ARPKD.
echogenicity
cortexE!!l
=-
renal enlargement with increased renal meduJ/ary
but preservaUon of some normal
ECHOGENIC KIDNEYS »-
c-
D.
o
3
ID
:::l
Obstructive Cystic Dysplasia

small, echogenic kidneys
=.
the pelvis, in the same case,
shows an enlarged bladder
•. a dilated posterior
urethra Eil and male
genitalia" These are
typical findings of posterior
urethral valves, with resulting
renal dysplasia from
long-standing obstruction.
second trimester fetus with
trisomy 13 shows a mildly
enlarged, echogenic kidney
•. (Right) Axial ultrasound
of the brain, in the same
fetus, shows semilobar
holoprosencephaly, with
differentiation of occipital
lobes E!llI and ventricular
communication across the
midline" anteriorly. Gther
findings included
polydactyly and
hypotelorism. Cystic
dysplasia is seen in
approximately half of all
trisomy 13 cases.
Meckel-Gruber Syndrome Meckel-Gruber Syndrome

markedly enlarged,
echogenic kidneys" There
is a/so severe
oligohydramnios. (Right)
Coronal ultrasound through
shows 6 toes =.
the foot, in the same case,
E!llI is also noted.

The heel
Additionally, an
encephalocele was present.
Cystic dysplasia is the most
consistent finding in
Meckel-Gruber syndrome.
6
51
C
Gl CYSTIC KIDNEY
E
o
"0
.c DIFFERENTIAL DIAGNOSIS • Obstructive Cystic Dysplasia
0(
o Cystic parenchymal change from chronic
Common obstruction
• Multicystic Dysplastic Kidney (MCDK) • Hydronephrosis ...•cortical cysts
• Hydronephrosis (Mimic) • Reflects nephron damage and decreased
• Obstructive Cystic Dysplasia renal function
• Duplicated Collecting System with o Cysts are often cortical
Obstruction (Mimic) • Form in subcapsular nephrogenic zone
Rare but Important o Kidneys become echogenic
• Simple Cyst o Reniform shape generally retained
• Meckel-Gruber Syndrome o Rarely can appear identical to MCDK
• Duplicated Collecting System with
Obstruction (Mimic)
ESSENTIAL INFORMATION o Upper and lower pole moieties separated
Key Differential Diagnosis Issues by band of renal parenchyma
• Do the "cysts" connect? o Upper pole prone to obstruction and can
o Real-time evaluation is essential for appear as cystic mass
differentiating an obstructed system from o Look for ureterocele in bladder
true renal cystic disease Helpful Clues for Rare Diagnoses
Helpful Clues for Common Diagnoses • Simple Cyst
• Multicystic Dysplastic Kidney (MCDK) o Isolated, unilocular renal cyst
o Multiple, variable-sized cysts in renal fossa o Vast majority resolve during pregnancy
o Reniform shape is lost • 4% progress to MCDK
o Often large, distorting normal abdominal • Meckel-Gruber Syndrome
anatomy o Triad of classic findings (2 findings
o Variable in-utero course; some involute required for diagnosis)
and others increase in size o Renal cystic dysplasia most consistent
• Hydronephrosis (Mimic) finding, present in 95-100%
o Distended calyces may appear "cyst-like" • Grossly enlarged, echogenic kidneys
o Must show that calyces connect with renal most common, but may present with
pelvis (longitudinal views best) bilateral, large cysts
o Causes: Ureteropelvic junction (UP]) or o Encephalocele in 60-80%
bladder outlet obstruction o Post-axial polydactyly in 55-75%
Multicystic Dysplastic Kidney (MCDK) Hydronephrosis (Mimic)
6 Coronalultrasound shows a MCDK on the righl. and

a normal kidney on lhe lefll:ll. A cenlral cysl Ell could
Coronal ultrasound shows dilaled calyces •
surrounding the renal pelves Ell in a fews with bilaleral
be confused for a renal pelvis, bul none of the cysts UP} obstructions. Real-time evaluation is essential to
connected during real-time evaluation. show calyces connecting with the pelvis.
52
CYSTIC KIDNEY ~
c-
D.
o
3
CD
::I

a UP! obstruction 6l
resulting in cystic dysplasia.
=-
Note the small cortical cysts
indicating nephron
damage from the
obstruction. (Right) Sagittal
ultrasound after delivery
shows progression of
dysplasia with a generalized
increase in echogenicity, los5
of normal corticomedullary
differentiation, and
progression of parenchymal
cysts 1IllI. Note the abrupt,
blunted appearance at the
UP! 6l a classic appearance
of UP! obstruction.
Duplicated Collecting System with

Obstruction (Mimic)
the kidney (calipers) shows
dilated upper pole calyces
•• connecting with the renal
pelvis E!lI. The lower pole of
the kidney !lliIl is normal.
Always consider a
duplicated system when only
a portion of the kidney is
involved. (Right) Axial
ultrasound shows a
unilateral, small cyst !lliIl
within
normal kidneys =
what are otherwise
This is
generally an isolated, benign
finding, but should be
followed up to rule out
progression,
Meckel-Gruber Syndrome Meckel-Gruber Syndrome

kidneys in a case of
Meckel-Gruber syndrome
shows bilateral enlargement,
with the renal parenchyma
replaced by multiple,
macroscopic cysts =-
This
appearance is less common
than enlarged, echogenic
kidneys. (Right) Radiograph
typical features of
Meckel-Gruber syndrome,
including an encephalocele
=-
6l post-axial polydactyly
and a markedly
protuberant abdomen from
the enlarged, cystic kidneys.
6
53
c: ABSENT KIDNEY
41
E
o
'C
.Q
DIFFERENTIAL DIAGNOSIS o No urine in fetal bladder
< o Anhydramnios
Common o "Lying down" adrenals in renal fossa,
• Renal Agenesis although this may be difficult to see in
o Bilateral Renal Agenesis setting of no fluid
o Unilateral Renal Agenesis o Look for renal arteries, but be aware of
less Common pitfalls
• Mimics for Renal Agenesis • Lumbar arteries can easily be mistaken
o Pelvic Kidney for renal arteries
o Crossed Fused Ectopia o MR very helpful for confirmation of
diagnosis
• Unilateral Renal Agenesis
ESSENTIAL INFORMATION o One kidney seen, which may show
Key Differential Diagnosis Issues compensatory hypertrophy
• Is the kidney truly absent? o May see "lying down" adrenal ipsilateral to
o Always search for ectopic location absent kidney
• Is the fluid normal? o Bladder seen to fill and empty
o Bilateral renal agenesis will have o Normal amniotic fluid volume
anhydramnios Helpful Clues for less Common Diagnoses
o Remainder have normal fluid • Pelvic Kidney
• Fetal adrenal is large and easily mistaken for o Empty renal fossa
a kidney, especially in 1st and 2nd trimester o Kidney in fetal pelvis, superior to bladder
o Normal adrenal has an "ice cream • May be difficult to see as echogenicity
sandwich" appearance similar to bowel
• Hypoechoic cortex surrounding a o Contralateral kidney is normal-sized
hyperechoic medulla • Crossed Fused Ectopia
o In renal agenesis adrenal has a flattened, o Ectopic kidney located in opposite flank
discoid, "lying down" appearance creating a large bilobed kidney
• Adrenal gland does not fold into "Y" or • 95% fused, 5% unfused
"tricorn hat" configuration if no kidney o Left crosses to right most often
• Bilateral Renal Agenesis • Uterine anomalies associated with renal
o No demonstrable renal tissue anomalies, especially renal agenesis
Bilateral Renal Agenesis
6 Coronal color Doppler ultrasound of a fetus with Coronal postmortem T2WI of a fetus with bilateral renal
54
anhydramnios,
arteries =-
which makes visualizauon of fetal
anatomy difficult. Flow is seen in the aorta IEi!lI and iliac
but no renal arteries \lV€'re identified.
=
agenesis shows elongated, 'lying down' adrenal glands
in the renal fossa. In the absence of kidneys, the
adrenals no longer have the normal "Y' shape.
ABSENT KIDNEY »
CT
Co
o
3
CD
:l
Unilateral Renal Agenesis Unilateral Renal Agenesis

the left kidney III which is
easily identified by the
presence of a small amount
of fluid in the renal pelvis
Eill The right renal fossa is
filled with liver III. The
kidney was large for
gestational age, typical of
compensatory hypertrophy.
(RighI) Coronal color
same case shows only the
left renal artery.:l arising
from the abdominal aorta.
There is a "Iying down II
adrenal gland EilII in the right
renal fossa.
Unilateral Renal Agenesis

a single left kidney III with
liver III in the right renal
fossa. This is a female fetus,
so ultrasound of the uterus
was recommended after
delivery. (Right) Postnatal
ultrasound of the pelvis in
septate uterus. There are two
endometrial cavities H:I
separated by a thick septum
!Ill The external uterine
contour. is normal,
distinguishing it from either a
didelphys or bicornuate
uterus.
Pelvic Kidney Crossed Fused Ectopia

ultrasound shows a pelvic
kidney" adjacent to the
bladder Eill This was smaller
than the orthotopic kidney
and difficult to differentiate
from surrounding bowel.
(Right) Postnatal ultrasound
of the right flank, in a
different patient, shows a
crossed fused ectopic
kidney. The ectopic left
kidney" is fused to the
lower pole of the orthotopic
right kidney Ill.
6
55
c:: LARGE BLADDER
QI
E
o
"
,Q
< DIFFERENTIAL DIAGNOSIS Helpful Clues for Less Common Diagnoses
Common • Prune Belly Syndrome
o Triad of dramatic collecting system
• Normal
• Posterior Urethral Valves (PUV) dilatation, deficiency of abdominal
musculature & cryptorchidism
Less Common o Often difficult to differentiate from PUV
• Prune Belly Syndrome o Look carefully at urethra
• First Trimester Megacystis • Entire urethra may be dilated
Rare but Important • Does not terminate at posterior urethra
• Urethral Atresia • May see spontaneous voiding
• Megacystis Microcolon • First Trimester Megacystis
o Bladder length> 7 mm at 10-14 weeks
o 25% reported to have aneuploidy (trisomy
ESSENTIAL INFORMATION 13, trisomy 18 most common)
Helpful Clues for Common Diagnoses o Of those that are chromosomally normal,
• Normal 90% regress while 10% progress to

o Transient finding with otherwise normal obstructive uropathy
urinary tract & amniotic fluid volume Helpful Clues for Rare Diagnoses
o Fetus will usually void during exam • Urethral Atresia
• Follow-up if bladder fails to decompress o Complete obstruction, therefore massive
• Posterior Urethral Valves (PUV) bladder dilatation and anhydramnios
o Urethral membrane acts as valve, resulting o Occur in either males or females, but
in bladder outlet obstruction oligohydramnios often precludes ability to
o Occurs exclusively in males determine sex
o "Keyhole" sign: Distended bladder o Often indistinguishable from severe PUV
"funnels" into dilated posterior urethra • Megacystis Microcolon
o Bladder often thick-walled, with degree of o Dilated bladder with normal to increased
distention depending on severity of amniotic fluid
obstruction • Differentiates it from other causes of
o Hydronephrosis common with potential large bladder
development of renal dysplasia o Intestinal hypoperistalsis may result in
o Typically oligohydramnios, or even dilated small bowel
anhydramnios, in severe obstruction o More common in females (M:F, 1:4)
Posterior Urethral Valves (PUV) Posterior Urethral Valves (PUV)
6 Coronal oblique ultrasound shows a dilated bladder

'funneling' into a dilated posterior urelhra =
('keyhole" sign). There is also ureteraldilatationEllI and
A composite image shows marked bladder distention
III with small, echogenic kidneys EllI. The diagnosis is
56
hydronephrosis •• =.
made by angling the transducer towards the bladder
base, showing the dilated posterior urelhra
LARGE BLADDER »
cr
Co
o
3
CD
~

ultrasound shows marked
bladder distention 1m and
bilateral hydronephrosis iii.
(Right) Ultrasound focused
on the penis, in the same
case, shows dilatation of the
entire urethra III There was
no "keyhole" configuration
as seen with PUv. No testes
were seen in the scrotum.
These features help to
distinguish prune belly
syndrome from Puv.
Prune Belly Syndrome

(Left) Autopsy in a different
case shows a virtually
=
translucent abdominal wall
secondary to lack of the
abdominal musculature.
bladder =
There is a grossly distended
hydronephrosis
E!ll & undescended testes
ICB all typical features of
prune belly syndrome.
shows fetal bladder
distension. & increased
nuchal translucency PIa in a
fetus with trisomy /8.
Approximately 25% of /st
trimester fetuses with
megacystis have aneuploidy.
Urethral Atresia Urethral Atresia

(Left) Ultrasound in a 27
week fetus shows massive
bladder distention
(compare to the femur,
=
which is being measured).
There was anhydramnios
making visualization of any
other fetal structures difficult.
the same case shows
dramatic abdominal
distention. The abdominal
wall has been stretched so
thin, areas were becoming
ischemic E!ll Autopsy
confirmed urethral atresia.
6
57
C
GI ABSENT/SMALL BLADDER
E
o
't:l
..c DIFFERENTIAL DIAGNOSIS o Normal or increased fluid suggests
« abdominal wall defect as cause of absent
Common bladder
• Normal • Bladder exstrophy
• Bilateral Renal Anomalies • Cloacal exstrophy
o Bilateral Multicystic Dysplastic Kidneys • Document bladder on every exam
o Bilateral Ureteropelvic Junction o Normal bladder will be flanked on either
Obstructions side by the umbilical arteries
o Bilateral Renal Agenesis • Seen best in axial plane
• Autosomal Recessive Polycystic Kidney
Disease Helpful Clues for Common Diagnoses
• Normal
Less Common o Bladder filling/voiding is dynamic &
• Severe IUGR changes during course of examination
• Twin-Twin Transfusion Syndrome • Recheck at end of exam if bladder is
Rare but Important empty at beginning
• Bladder Rupture o If amniotic fluid & kidneys are otherwise
• Bladder Exstrophy normal, then a pathologic process is
• Cloacal Exstrophy unlikely
• Bilateral Multicystic Dysplastic Kidneys
o Renal tissue replaced by cysts of varying
ESSENTIAL INFORMATION sizes
Key Differential Diagnosis Issues o Affected kidneys are non-functional
• Reasons for absent/small bladder o Unilateral MCDK has normal bladder &
o Urine is not be produced amniotic fluid
• Primary renal anomaly o Bilateral MCDK has no visualized bladder
• Poor fetal perfusion leading to poor fetal or amniotic fluid
urine production: Twin-twin transfusion • Bilateral in 20%
syndrome (TTTS), severe intrauterine o Contralateral renal anomaly (non-MCDK)
growth restriction (IUGR) in 40%
• Bladder not truly absent, just not seen • If severe (e.g., agenesis), may also result
because of lack of distention in no urine production
o Bladder is "leaking" • Bilateral Ureteropelvic Junction
• Cloacal exstrophy Obstructions
• Bladder exstrophy o Calyceal & pelvis distention which ends
• Bladder rupture abruptly at UPJ
• Amniotic fluid assessment is important part o t Risk of renal impairment if prenatal AP
of identifying cause of absent/small bladder diameter> 10 mm
o Oligohydramnios/anhydramnios in o 10% bilateral
singleton • Can progress causing complete
• Renal agenesis obstruction with "absent" bladder &
• Bilateral multicystic dysplastic kidneys anhydramnios
(MCDK) • Bilateral Renal Agenesis
• Bilateral uteropelvic junction (UP]) o No demonstrable renal tissue
obstructions o Flattened, discoid adrenals in renal fossa
• Autosomal recessive polycystic kidney o No urine in fetal bladder
disease (ARPKD) o Anhydramnios
• Intrauterine growth restriction (IUGR) • Autosomal Recessive Polycystic Kidney
o Twin with oligohydramnios Disease
• TTTS or any of the above fetal anomalies o Bilateral, large, echogenic kidneys
• Normal hypoechoic cortex may be seen
6
58
ABSENT/SMALL BLADDER »
c-
o.
o
• Look for thin hypoechoic rim around • Stage 2: Donor bladder empty, normal 3
CD
:l
echogenic medulla Doppler
o Degree of bladder filling & amniotic fluid • Stage 3: Donor bladder empty, abnormal
is variable depending on severity of disease Doppler
Helpful Clues for Less Common Diagnoses • Stage 4: Hydrops in recipient
• Stage 5: Demise of one or both
• Severe IUGR
o Placental insufficiency most common Helpful Clues for Rare Diagnoses
cause • Bladder Rupture
• Usually late onset, asymmetric IUGR o Initial ultrasound may show markedly
o High resistance placental perfusion enlarged bladder
• Blood returning to fetus shunted to o Rupture results in urinary ascites
cerebral and coronary circulations o Thick-appearing bladder wall after
• ~ Renal perfusion ...•~ urine production ...• decom pression
"absent" bladder + oligohydramnios • Bladder Exstrophy
• Twin-Twin Transfusion Syndrome o Failure of abdominal wall closure resulting
o Monochorionic twins with artery-to-vein in exposed posterior bladder wall
anastomoses in placenta o Absence of bladder on prenatal ultrasound
o Donor twin partly perfuses recipient twin most consistent finding
o Fetuses often discordant in size o Soft tissue mass/irregularity along
• Donor small, recipient large abdominal wall, below cord insertion
o Donor twin: Oligemic ...•~ urine • No extruded bowel as in cloacal
production ...•"absent" bladder + exstrophy
oligohydramnios • Cloacal Exstrophy
• Amniotic membrane tightly adherent, o Spectrum of abnormalities resulting from
giving a "shrink-wrapped" appearance abnormal development of cloacal
• May appear suspended from uterine wall membrane
o Recipient twin: Plethoric, polyhydramnios, o Absence of normal bladder
at risk for hydrops o Lower abdominal wall defect
o Presence of urine in bladder important in • Herniation of bowel between 2 halves of
staging TITS split bladder
• Stage 1: Donor bladder visible, normal • Omphalocele forms upper part of defect
Doppler • Abnormal genitalia: Males may have
bifid scrotum and penis
Normal Normal
Axial color Doppler ultrasound shows bilateral umbilical

arteries 81. This is the anatomic landmark for the fetal
bladder, but none was seen. Normal amniotic fluid and
the bladder =
Axial color Doppler ultrasound 7 minutes later shows
starting to fill, confirming that this fetus is
indeed normal. The bladder often changes appearance
6
kidneys make an anomaly unlikely. during the examination.
59
c: ABSENT/SMALL BLADDER
CIl
E
o
"C
,g
«
Bilateral Multicystic Dysplastic Kidneys
cystic kidneys =
shows bilateral, enlarged,
with no
fluid-filled bladder in the
expected location H1.
MCDK are non functioning,
so when bilateral, there is no
urine production.
Anhydramnios results in
pulmonary hypoplasia,
which is lethal. (Right) Cross
pathology in a dif(erent case
shows bilateral, large, cystic
kidneys H1. The bladder
is atretic. It is present, but
=
not seen, in cases of anuria
because of lack of distention.
Bilateral Ureteropelvic Junction

Obstructions Bilateral Renal Agenesis
bilateral, severe UPj
obstructions resulting in
oligohydramnios. UPj
obstructions have a variable
in utero course with those>
10 mm more likely to be
significant. (Right) Coronal
the aorta =
color Doppler ultrasound of
and inferior
vena cava IE!ilI shows absent
renal arteries and veins.
There is anhydramnios and
an "absent" bladder =.

Disease Severe IUGR
shows bilateral, large,
echogenic kidneys =
in a
fetus with ARPKD. The renal
function ;s compromised,
resulting in an absent
bladder IE!ilI and
anhydramnios. (Right)
case of severe, early onset,
III and pelvis =

asymmetric {UCR. The spine
are visible
despite anhydramnios; no
urine was seen in the
bladder. The placenta had
massive fibrin deposition,
causing severe placental
insufficiency.
6
60
ABSENT/SMALL BLADDER >
c-
o.
o
3
~
::;,
Twin-Twin Transfusion Syndrome Bladder Rupture

(Leh) Sagittal US of a donor
twin, in a case of TTTS,
shows oligohydramnios !Ill
with the donor suspended
from the uterus by a tightly
"shr;nk·wrapped"
membrane •. There is no
urine within the bladder E!ll
making this at least stage 2
TTTS. (Right) Sagittal T2WI
MR shows abdominal
distention from urinary
ascites ~ The
decompressed bladder
has a thick wall, the sequela
of having been massively
stretched. Multiple other
anomalies were present.

the lower fetal abdomen
shows a normal cord
insertion III. No bladder
was seen, and the anterior
abdominal wall has irregular,
echogenic contour E!ll
which represents the
posterior wall of the exposed
bladder. The amniotic fluid
was normal. (Right) Sagittal
ultrasound shows an absent
bladder III and an
abdominal wall defect with
extruded bowel III inferior
to the cord insertion HI.
typical findings of cloacal
exstrophy.
(Left) Sagittal T2WI MR of a

fetus with cloacal exstrophy
shows a low abdominal wall
defect III with
non·visualizaLion of the
bladder E!ll The amniotic
fluid is normal. (Right)
Clinical photograph in the
same case shows the
ruptured omphalocele ••
with bowel herniating
between the two halves of
the exposed bladder ~
There is also a split scrotum
Idl
6
61
c:: ADRENAL MASS
Gl
E
o
'a
.c DIFFERENTIAL DIAGNOSIS 060% are right-sided
< oNo identifiable adrenal gland on side of
Common mass
• Bronchopulmonary Sequestration (Mimic) o Displaces kidney inferiorly
• Neuroblastoma o Color Doppler may show diffuse
Rare but Important vascularity but no dominant feeding vessel
• Adrenal Hemorrhage o Usually presents in 3rd trimester
o Solid masses are more likely to metastasize
• Liver most common site for metastases
ESSENTIAL INFORMATION in utero
Key Differential Diagnosis Issues • Hydrops may develop with large masses
• Search carefully for an adrenal gland or metastatic disease
o Neuroblastoma and hemorrhage involve o Cystic masses are usually complex, with
the adrenal gland, while a sequestration is thick septations
separate from it Helpful Clues for Rare Diagnoses
• Normal adrenal gland has an "ice cream • Adrenal Hemorrhage
sandwich" appearance o Reported in utero but uncommon
o Hypoechoic cortex, hyperechoic medulla o Can be solid or cystic
Helpful Clues for Common Diagnoses • Appearance variable and changes with
• Bronchopulmonary Sequestration (Mimic) evolution of blood products
o 10-15% subdiaphragmatic o Will involute over time
o Majority left-sided o No color flow within mass
• Stomach is displaced anteriorly o MR can confirm blood products
o Typically an echogenic, solid mass Other Essential Information
• May see small cystic areas • Neuroblastoma has variable, but generally
o Separate from adrenal gland favorable, in utero course
o Color Doppler important for diagnosis o > 90% overall survival
• Look for dominant feeding vessel from • Tumors remain stable or even
aorta spontaneously resolve
o Usually presents in 2nd trimester • Cystic masses have best prognosis and
• Neuroblastoma may represent involuting tumor
o May be either cystic or solid o Minority of cases progress to hydrops and
• Approximately equal occurrence even death

(Mimic) (Mimic)
6 Coronal ultrasound shows a predominately solid

=-
Sagittal ultrasound after delivery shows the same mass
=.
suprarenal mass (calipers), separate from the kidney
Use Doppler to look for a dominanl feeding vessel.
clearly separate from the adrenal gland !llIl.
Resection confirmed a sequestration.
62
ADRENAL MASS >
tr
Q.
o
3
ell
::::I
Bronchopulmonary Sequestration
(Mimic) Neuroblastoma
(Left) Axial CECT in a
newborn with a left-sided
suprarenal mass shows a
very prominent feeding
vessel arising from the
aorta. This is an important
finding in a sequestration.
(Right) Axial CECT in a
newborn with a right-sided
suprarenal mass shows
heterogeneous enhancement
and no feeding vessel.
Biopsy showed a
neuroblastoma.
Neuroblastoma
shows a large, solid
suprarenal mass = that
displaces the kidney lEI
inferiorly. In addition, there
were multiple liver lesions,
consistent with metastatic
neuroblastoma. (Right)
Gross pathology from the
autopsy in the same case
shows the large, solid
adrenal tumor =.. which is
compressing the upper pole
of the kidney lEI. This
correlates with the
ultrasound appearance.
Adrenal Hemorrhage
shows a cyst lEI by the
upper pole of the kidney E!ll
It is difficult to tell, with
certainly, whether the cyst is
adrenal or renal in origin, but
no normal adrenal gland
could be seen on that side.
Blood products were
identified on a fetal MR.
(Right) Axial ultrasound after
delivery shows a mildly
enlarged adrenal gland='
with a residual hypoechoic
area lEI. This completely
resolved on follow-up scans,
which is typical for adrenal
hemorrhage.
6
63
C
GI AMBIGUOUS GENITALIA
E
o
"l:l
.a DIFFERENTIAL DIAGNOSIS • Genetic female with Y chromatin
< • Mosaic (46,XX/46,XY)
Common o Mixed or pure gonadal dysgenesis
• Clitoromegaly • Variable karyotypes (mosaics common)
• Microphallus
less Common • Clitoromegaly
• Hypospadias o Idiopathic when mild
Rare but Important o Enlarged clitoris between labial folds
• Cloacal Exstrophy/Malformation • Can mimic penis
o Clitoris points inferiorly on sagittal views
• May help differentiate from small penis,
ESSENTIAL INFORMATION which points cranially
Key Differential Diagnosis Issues • Microphallus
• Accurate prenatal diagnosis difficult o Often with cryptorchidism
o Do not assign gender prenatally • Empty scrotum mimics labia
o Genetic amniocentesis helpful o Can look identical to clitoromegaly
o Look carefully for other anomalies Helpful Clues for less Common Diagnoses
• Aneuploidy/syndrome associations • Hypospadias
o Trisomy 13 o Urethra opens on ventral side of penis
o Triploidy o Common associated genital anomalies
o Deletion/translocation abnormalities • Small penis
o Syndromes • Chordee (curved penis)
• Smith-Lemli-Opitz • Cryptorchidism
• Prader-Willi
• Abnormal hormone influence
o Female pseudohermaphrodite (46,XX) • Cloacal Extrophy/Malformation
o Infra umbilical abdominal wall defect
• Exces? androgenesis
o Absent bladder
• Congenital adrenal hyperplasia
o Male pseudohermaphrodite (46,XY) • Exposed bladder in 2 halves
o Splayed symphysis pubis
• Abnormal response to testosterone
o Markedly abnormal genitalia
• Deficient testosterone production
o True hermaphrodite
• Bifid penis, split scrotum, cryptorchidism
• Extremely rare • Split labia, duplicated Mullerian
structures, abnormal vagina
Clitoromegaly Microphallus
6 Axial ultrasound shows an enlarged clitoris

normal labial folds HI. Amniocentesis
= between
results were
Axial ultrasound shows a small penis = and empty
scrotal sacs Bl which mimic labial folds. The fetus also
46,XX and at delivery, the finding was thought to be had a cardiac defect and hydrocephalus. Karyotype was
mHd and no treatment was warranted. 46,XY.
64
AMBIGUOUS GENITALIA »
tT
Q.
o
3
CD
~
Microphallus Microphallus
ambiguousgenitalia. in a
male fetus with trisomy 13. It
was difficulT 10 tell whether
this was a micropenis or a
clitoris. The fetus also had
other severe anomalies.
(Right) Cross pathology
image of the same fetus
shows the micropenis =:I
and the empty scrotal sac
Bl CryplOrchism is often
seen in association with
microphallus.

32 week fetus with
ambiguous genitalia at 20
weeks shows a single
descended testis =:I
surrounded by fluid. In
addition, the tip of the penis
is blunted Bl rather than
normally tapered. The
blunted appearance suggests
hypospadias. (Right) 3D
ultrasound confirms the
blunted appearance of the
penile tip. Also mild ventral
curvature HI of the tip of the
penis is appreciated. The
findings were confirmed after
delivery.
Cloacal Exstrophy/Malformation Cloacal Exstrophy/Malformation

genitalia in a fetus with
cloacal exrrophy and female
karyotype shows abnormal
labial folds III. (Right)
Clinical photograph after
delivery shows the inferior
abdominal wall defect and
splayed labia majora =:I. An
atretic vagina was present.
The split, externalized
bladder mucosa HI and the
midline omphalocele IlIl are
hallmarks of cloacal
extrophy.
6
65
C
4> SCROTAL MASS
E
o
"C
.Q
DIFFERENTIAL DIAGNOSIS • Diffusely hypoechoic from edema
< • Heterogeneous from infarction
Common o Scrotal edema
• Hydrocele o Complex hydrocele from hemorrhage or
less Common inflammatory reaction
• Testicular Torsion o "Double ring hemorrhage" variant:
• Inguinal Hernia Hemorrhage trapped in two spaces
• Between visceral and parietal tunica
vaginalis
ESSENTIAL INFORMATION • Between tunica vaginalis and scrotum
Helpful Clues for Common Diagnoses o Doppler rarely helpful, unless obvious flow
• Hydrocele in normal testis
o Simple hydrocele • Inguinal Hernia
• Anechoic fluid o Bowel herniates through inguinal canal
• Fluid forms "half moon" crescent around o Cystic/echogenic mass in scrotum
testis o Look for peristalsis
• Large hydrocele may completely o Hydrocele common
surround testis o Look for a normal testis adjacent to mass
• May be isolated or part of generalized Other Essential Information
hydrops • Normal testicular descent at 25-32 wks
• 2/3 unilateral, 1/3 bilateral • Processus vaginalis forms from extension of
• Testes normal peritoneal cavity and aids in descent of testis
• Usually transient finding with most o Normally obliterates and becomes tunica
resolved by birth vaginalis
o Complex hydrocele o Hydrocele forms if persistent patent
• Fluid with linear/focal echoes processus vaginalis or fluid not resorbed
• Suggests a secondary process: o Patent processus vaginalis also risk factor
Hemorrhage, testicular infarction/torsion for inguinal hernia
Helpful Clues for less Common Diagnoses • Always consider torsion in setting of
• Testicular Torsion complex hydrocele
o Testis may be either large (acute) or small o Testis is rarely saved when torsion
(chronic) diagnosed in utero
o Variable echogenicity
Hydrocele Hydrocele
6 Axial ultrasound shows bilateral, asymmelric, simple Sagittill ullrasound of the scrotum shows a hydrocele
66
hydroceles. The testes =:I are displaced posteriorly.
These resolved spontaneously
normal on the newborn exam.
and the scrotum was
~
=
resufUng from ascites extending through a patent
processus vaginalis r=).
(penis
SCROTAL MASS >
cr
Q.
o
3
CD
:;,
Testicular Torsion Testicular Torsion

the fetal scrotum shows a
unilateral right hydrocele
with internal echoes =
raising concern for a
hemorrhagic or inflammatory
process. (Right) Sagittal color
Doppler ultrasound after
delivery shows an enlarged
right testis with hypoechoic
avascular areas =..
consistent with infarction
from intermittent torsion. The
left testis was normal.
Testicular Torsion Testicular Torsion

(Leh) Axial power Doppler
ultrasound in a newborn
with a dusky, swollen
scrotum on physical exam
shows no {Jow within a very
abnormal, heterogeneous
testis E!Il (Right) Gross
pathology following
orchiectomy shows
hemorrhagic infarction,
which resulted from in ulero
torsion.
Inguinal Hernia Inguinal Hernia

fetal scrotum shows simple,
bilateral hydroceles. The
presence of scrotal fluid aids
in the detection of a 50ft
tissue mass -=
the right testis ~
adjacent
(Right)
to
Sagittal ultrasound
performed after delivery
shows a bowel loop =
adjacent to the normal testis
IlIl and epididymis E!Il
Peristalsis was seen during
the scan confirming bowel
herniation.
6
67
Abnormal Fetal Posture/Movement 7-2
Mildly Short Femur/Humerus 7-8
Severe Limb Shortening 7-12
Angulated Bones 7-18
Abnormal Ossification 7-24
Radial Ray Malformation 7-26
Abnormal Foot 7-30
Abnormal Digits 7-36
Polydactyly 7-40
Syndactyly 7-42
ABNORMAL FETAL POSTURE/MOVEMENT
DIFFERENTIAL DIAGNOSIS o Severe symmetrical growth restriction

(IUGR) and multiple anomalies common
Common • Arthrogryposis, Akinesia Sequence
• Spina Bifida o Fixed contractu res of multiple joints, often
• Trisomy 18 severe
• Arthrogryposis, Akinesia Sequence o Joint abnormalities due to fetal akinesia
• Fetal Constraint • Bilateral and symmetrical
less Common o Upper and lower extremities may be
• Body Stalk Anomaly equally affected or discordant in severity
• Caudal Regression Sequence o Associated polyhydramnios due to
• Fetal Hypoxia/Severe Hypotonia decreased swallowing
• Amniotic Bands o Skin edema, osteopenia, frank hydrops
• Fetal Neck Masses often late findings, especially in lethal
• Joint Dislocation cases
• Vertebral Segmentation Abnormalities • Fetal Constraint
o Multiple gestation
Rare but Important • Postural abnormalities due to crowding
• lniencephaly • True deformations may result (clubfeet,
• Multiple Pterygium Syndrome torticollis, plagiocephaly)
o Fibroids
ESSENTIAL INFORMATION • Large submucosal or multiple smaller
fibroids
Key Differential Diagnosis Issues o Uterine anomaly
• Postural abnormalities • Associated malposition common
o Is the abnormality fixed or does the o Severe oligohydramnios
position normalize with fetal movement? • Premature rupture of membranes
o Is the abnormal body posture associated • Twin-twin transfusion donor twin
with an obvious anomaly? • Severe IUGR, genitourinary anomalies
• Fetal movement abnormalities
o Is the movement abnormality progressive Helpful Clues for less Common Diagnoses
over time or an acute change? • Body Stalk Anomaly
o Is there evidence of arthrogryposis? o Severe postural abnormalities
o Is there associated oligohydramnios, o Rotary scoliosis with unusual angulation of
polyhydramnios, osteopenia or extremities from the body axis

edema/hydrops? o Lack of free floating umbilical cord
o Is the fetus normally grown? o Large schisis defects of abdomen &/or
o Can normal movement be elicited by thorax seen, often with adherence of
acoustic stimulation? defect to the placenta
• Normal sleep cycle vs. pathologic lack of • Caudal Regression Sequence
movement o Absent sacrum with hypoplastic lower
extremities
Helpful Clues for Common Diagnoses o Legs held in a fixed, "Buddha" or
• Spina Bifida "crossed-legged tailor's" posture
o Lack of movement of the lower extremities o More common in poorly controlled
associated with clubfeet ± diabetes
ventriculomegaly • Fetal Hypoxia/Severe Hypotonia
o Abnormal calvarium shape ("lemon" sign) o Decreased or absent fetal breathing, tone
with small abnormal posterior fossa and movement
("banana" sign) o Increased risk of fetal/neonatal birth
• Trisomy 18 asphyxia, neurologic injury, seizures
o Arthrogryposis of multiple joints may be o Chronic hypoxia from severe
seen uteroplacental insufficiency
7
2
ABNORMAL FETAL POSTURE/MOVEMENT ~
c
rn
l'l
c
• IUGR, oligohydramnios • Joint Dislocation 0"
rn
• Abnormal Dopplers with absent or o More common in hips, knees ~
-
lD
reversed end diastolic flow, pulsatile • Vertebral Segmentation Abnormalities CD
ductus venosus o Hemivertebrae, missing vertebral !.
o Causes of acute hypoxia segments, abnormal ribs associated with
• Abruptio placenta scoliosis
• Severe maternal hypoxemia (trauma, Helpful Clues for Rare Diagnoses
cardiopulmonary arrest, asphyxia) • Iniencephaly
o Severe hypotonia: May be acute or chronic
o Persistent "stargazer" posture of head, neck
• Hyperextended or hyperflexed neck due to fixed cervical hyperextension,
• Usually due to underlying neurologic cervical neural tube defect
abnormality o Other malformations common
• Amniotic Bands • Multiple Pterygium Syndrome
o Wide spectrum of disruptions, often
o Fixed joint contractu res associated with
associated with postural abnormalities abnormal posture
• Fetus may appear tethered o Pterygia may not be visualized on
o Membrane strands may be visible in
ultrasound
amniotic cavity o Cystic hygroma and hydrops in lethal type
• Fetal Neck Masses
o Postural abnormality of neck may be Other Essential Information
progressive • Hydrops and polyhydramnios with
o Decreased fetal swallowing - development arthrogryposis predict high risk for lethality
of polyhydramnios - increased risk of • If decreased or absent fetal movement,
airway obstruction search for evidence of acute or chronic
o Goiter condition
• Neck hyperextension with large goiter o lf acute, fetal hypoxia is likely and delivery
• Sagittal view to evaluate position of head may be life saving
and neck; mode of delivery or airway at • If abnormal posture, evaluate for evidence of
birth unlikely to be affected if normal associated fetal or uterine abnormality to
neck flexion observed determine underlying cause
o Cystic hygroma (lymphangioma)
• Large and asymmetrical masses lead to
significant postural abnormality of head
and neck
Spina Bifida
Axial ultrasound shows a sac E!lI overlying a large

lumbosacral myelomeningocele III in a mid-trimester
Clinical photograph shows term newborn with
lumbosacral neural tube defect. Note the bilateral
7
fetus. clubfeet E!lI and atrophic legs IIlI held in an abnormal
posture.
3
case of arthrogryposis
associated with trisomy 18.
The hand I!:a was
persistently held in an
abnormal orientation to the
wrist. The legs were held in
extension, and the left foot
was clubbed. (Right) Clinical
photograph shows a slillborn
term infant wilh trisomy lB.
Arthrogryposis with multiple
joint contraclures can be
seen A large
omphalocele is also apparent
Bl
Arthrogryposis, Akinesia Sequence

(Left) Ultrasound shows a
fixed, extended knee
clubfootl!:a in a
=
and
mid-trimester fetus. Both

upper and lower extremities
were affected. (Right)
Clinical photograph of
another infant who had
amyoplasia shows flexed
wrislS IlIl hyperextended
elbows Bl and severely
atrophic hands I!:a. The
lower extremities were
normal.
Arthrogryposis, Akinesia Sequence Arthrogryposis, Akinesia Sequence

(Left) Sagittal 3D ultrasound
shows hyperextended knees
~ in another midtrimester
fetus with severe, progressive
fetal akinesia sequence.
Bilaleral clubfeet are also
seen Polyhydramnios
was present. (Right) Clinical
photograph shows the same
stillborn fetus at 23 weeks.
Note the atrophic legs .:I
and clubfeet Bl The wrislS
are flexed I<:B and the fingers
extended with a gap
between the 2nd and 3rd
fingers
7
4
ABNORMAL FETAL POSTURE/MOVEMENT ~
c:
UI
n
c:
0"
UI
~
Fetal Constraint Fetal Constraint
.•
CD
CD
!!!.
shows oligohydramnios in a
donor fetus with twin-twin
transfusion. Normal fetal
movement is prevented by
the lack of fluid and tight
membrane" (Right)
Clinical photograph of a
newborn with renal agnesis
shows typical Pouer facies
including wrinkled skin,
flauened facial features,
low-set ears Elll and a small
chin -=. Clubbed feet and
muscle atrophy =::I are also
presem, all the result of
anhydramnios causing
restricted fetal movement.

extensive lhoracoabdominal
defect ~ with ectopia
cordis = and extrusion of
the liver HI in a fetus with a
body stalk anomaly. (Right)
Clinical photograph shows a
preterm stillborn fetus with a
body wall complex. Severe
rotary scoliosis is apparem
_ as is a large sacral
lipomeningocele The
substantial abdominal wall
defect HI is adherent to the
placenta ffi The limbs are
normal. There is no (ree cord
visible.
Caudal Regression Sequence Caudal Regression Sequence

shows a mid-trimester felUs
with sacral agenesis and
caudal dysplasia. The sacral
spine is absent below S I ED
(Right) Ultrasound of the
lower extremities showed the
legs =::I in a persistemly
flexed and crossed position.
This has been called the
"cross-legged tailor's"
posture or "Buddha" pose.
This fetus had triploidy.
7
5
Caudal Regression Sequence

shows a preterm infant of a
diabetic mother with caudal
dysplasia. The lower
extremities are hypoplastic
ffi and the legs are held in a
fixed "cross-legged tailor's"
position. Note the popliteal
pterygia IdI from lack of
movement in utero. (Right)
Pulsed Doppler ultrasound
shows absent end diastolic
flow =:I in a severely growth
restricted fetus. Abnormal
cord Doppler in IUGR is
concerning for fetal hypoxia.
Amniotic Bands Fetal Neck Masses

mulliple strands of
membrane III in a
mid-trimester case of
amniotic bands. The strands
are attached to fetal parIS 1:2
and limit fetal movement.
shows a large mullicyslic
mass =:I in the anterolateral
neck of this early third
trimester fetus. The mass, of
Iymphalic origin, invaded the
mouth of the fetus.
Fetal Neck Masses Fetal Neck Masses

shows residual redundant
nuchal skin HI in a newborn
diagnosed with a large goiter
in utero. The fetus was
successfully treated in ulero
with resolution of neck
hyperextension. (Right)
large lymphangioma =:I
in a
newborn. Significant lateral
flexion of the neck is seen.
7
6
Joint Dislocation
(Left) Sagiltal ultrasound
shows a hyperextended knee
= in a mid-trimester fetus.
The foot E!lI and leg were
otherwise normal.
Movement was seen
involving the joint, but the
leg never straightened
normally. (Right) Lateral
clinical photograph shows
the lower extremities of the
same infant at birth. The
knee dislocation ~ was
treated with splinting and
surgery after birth.
Vertebral Segmentation Abnormalities

(Left) Radiograph shows
complex vertebral
segmentation defeclS in a
newborn with congenital
El!l bifid rib =-

scoliosis. A hemivertebrae
and absent
rib !I:I are noted. (Right)
Sagiltal ultrasound shows a
J st trimester fetus with
iniencephaly. The head lID is
directly contiguous with the
body. with no apparent
neck, giving the appearance
of the head being too big for
the body. Facial bones E!lI
are seen but no obvious
cranium or posterior spinal
elements (rachischisis).

shows a stillborn
iniencephaly. Note the
•.
=-
classic "stargazer" posture of
the head the short neck
and the cervical neural
tube defect E!lI. The head
appears disproportionately
large for the fetal body.
shows axillary lID and
anterior nuchal E!lI pterygia
in a stillborn infant with
multiple pterygium
syndrome.
7
7
MILDLY SHORT FEMUR/HUMERUS
DIFFERENTIAL DIAGNOSIS • Shorter average femur and humerus than

white or African American pregnancies
Common o Biologic inherent variation has most
• Idiopathic impact in the third trimester
• Chromosome Abnormality • Trisomy 21
o Trisomy 21 o Minor marker for trisomy 21 (T21)
o Turner Syndrome (XO) o Short humerus length (HL) more sensitive
• Early Onset IUGR than short femur length (FL)
Less Common o FL and HL compared to BPD
• Heterozygous Achondroplasia • Expected FL = -9.3 + 0.90 (BPD)
• Osteogenesis Imperfecta • Expected HL = -7.9 + 0.84 (BPD)
• Proximal Focal Femoral Dysplasia • Abnormal ~ measured:expected FL :s
0.91 or HL :s 0.90
o Look for other signs of trisomy 21
ESSENTIAL INFORMATION • ~ 1 minor markers seen in 50-70% of T21
Key Differential Diagnosis Issues fetuses
• Is the short femur or humerus present • Major anomalies in 25-30% (cardiac,
bilaterally versus isolated asymmetric? duodenal atresia, etc.)
o Measure humerus and femur on both sides o Correlate with serum screen and first
to compare trimester ultrasound
o Consider measuring all extremity bones if • Serum screen risk for T21 reported for
humerus/femur is dramatically short maternal serum quadruple test or
• More likely a skeletal dysplasia integrated screening
o If isolated to one long bone, could be focal • Nuchal translucency in first trimester
defect of that limb always should be < 3 mm
• Check morphology of affected extremity • Turner Syndrome (XO)
to exclude in utero amputation/amniotic o Mild rhizomelia present at time of second
bands trimester screening
• Assess morphology of osseous structures o Nuchal cystic hygroma is the predominant
o Are the long bones straight versus bent? obvious finding
• Bent bones suggests in utero fractures • Usually large fluid collection in lateral
and/or abnormal bone density and posterior neck
o Skull shape • Can have multiple thin septations
• Abnormal can aid in assessment of o Can present with non-immune hydrops
skeletal dysplasia o Associated with cardiovascular anomalies
o Bone density (60%)
• Can be difficult to assess in utero until • Coarctation of aorta
later in gestation • Hypoplastic left heart
• Poor ossification of skull can be useful o May have early symmetric growth
clue for abnormal bone density restriction
• Many syndromes are associated with mildly • Early Onset IUGR
short long bones o All biometric parameters should be equally
o Ranges from chromosomal abnormalities affected
to multisystem disorders o Symmetric IUGR has strong association
with aneuploidy
Helpful Clues for Common Diagnoses • Search carefully for anatomic
• Idiopathic abnormalities to correlate
o Often constitutional if symmetric and
• Unlike asymmetric IUGR, more often
parents are short fetal etiology rather than
o May be seen in fetuses of Asian or Hispanic
maternal/placental
descent o Oligohydramnios may be present
7
8
MILDLYSHORT FEMUR/HUMERUS 5:
c:
(II
n
c:
• Especially in cases of trisomy 13, 18 • Most mutations autosomal dominant 0"
(II
Helpful Clues for Less Common Diagnoses • Proximal Focal Femoral Dysplasia ~
-
Cl)
o Consider if focal isolated defect of (;"
• Heterozygous Achondroplasia III
proximal femur(s)
o Long bone shortening noted in late second
• Most commonly unilateral (80%)
or third trimester
• Affected femur may have acute varus
• Early scan may be normal with
angulation due to discontinuity of
progressively discrepant bone growth
proximal femur
• Humerus affected more severely than
• Femoral head can be absent in severe
femur
cases
o Normal ossification and morphology
o Hemipelvis usually affected
• No fractures or bowing
• Ranging from shallow acetabulum ;+
o Look for other signs to make diagnosis
hemipelvis hypoplasia
• Macrocephaly, frontal bossing
o Occasionally seen with fibular
• Thoracolumbar kyphosis
hypoplasia/aplasia
• Trident hands
o Associated with diabetic embryopathy in
o Autosomal dominant
the setting of femoral-facial syndrome
• Check parental chromosomes to assess
• Check for other anomalies seen with
for recurrence risk
maternal diabetes
• 80% are new mutations
• Caudal regression, cardiac anomalies,
• Homozygous achondroplasia is lethal
brain anomalies, etc.
with early severe findings
o Depending on severity of defect and
• Osteogenesis Imperfecta
postnatal clinical follow-up, can have
o Bent bones due to in utero fractures
excellent prognosis with correction
o Decreased mineralization
• Skull can be manually deformed from Other Essential Information
transducer pressure • If femur is not exactly in scan plane during
o Small chest circumference with "beading" measurement, can easily simulate mild
• Due to multiple rib fractures shortening
o Measure all long bones in suspected fetus • Measure upside femur for most accurate
• Severe shortening in 01 type II length
• Other types less affected • If one femur is short, measure the
o Genetic counseling indicated for contralateral side to assess whether finding
recurrence risk is bilateral
Idiopathic
FL vs. GA adloek
I
9.0
8.0
7.0
6.0
5.0
4.0
3.0
2.0
1.0
em
15 20 25 30 35 40wk
Ult.rasound shows a relatively short femur in an
otherwise normal fetus of Asian descent At this 32.5
Growth chart plotting femur length (FL) against
gestational age (CA) in the same fetus shows the mildly
7
week scan, the femur measures about 29 weeks short femur. Note the difference is more pronounced in
according to standard growth curves. third trimester ffi which is usually the case.
9
a morphologically normal
femur (calipers), measuring
/9.5 weeks though the fetus
was 24 weeks gestation.
Always remember to
measure the humerus if
trisomy 21 is suspected, as it
is more affected than femur
length. (Right) Coronal
shows c/inodactyly =.:II.
Additional findings of trisomy
21 a/50 were present.
Amniocentesis confirmed the
diagnosis.
a straight, unremarkable
femur measuring 26 weeks in
a 35 week gestation. (Right)
Sagittal ultrasound of the
same fetus shows a
protuberant tongue =
which was seen in rea/time
and could not retract fully
into the oral cavity. This fetus
had trisomy 21.

the femur shows a normal
femur (calipers), though
short for gestational age,
measuring /5 weeks at /7
weeks gestation. Note the
50ft tissue edema of the thigh
=.:II. (Right) Axial ultrasound
of the same female fetus at
the level of the cervical spine
cystic hygroma =
shows the associated large
characteristic for Turner

syndrome.
7
10
Early Onset IUGR

(Left) Ultrasound of the
distal femur in a fetus with
IUGR shows ossification of
the distal femoral epiphysis
_ indicating the fetus is at
least 32 weeks gestation. The
femur measured 33 weeks
and the humerus 32 weeks
in a 35.6 week fetus. (Right)
Clinical photograph shows
typical facial findings of
achondroplasia with a flat
midface, depressed nasal
bridge, and upturned nasal
tip. Note the trident hand =:I
and short humerus E!I:I. In
utero the (emur measured 24
weeks at 31 weeks gestation.
Osteogenesis Imperfecta
an irregular contour to the
femur (calipers), consistent
with multiple healed in utero
fractures. The femur can vary
from mildly to severely
shortened depending on the
type of 01. (Right) Axial
shows the irregular
"beaded" appearance of the
letal ribs __ again due to
multiple fractures. There is
also poor mineralization of
the osseous structures.
Proximal Focal Femoral Dysplasia Proximal Focal Femoral Dysplasia

gross asymmetry of the left
femur lID compared to the
right E!I:I at the time of
screening for fetal anomalies.
(Right) Anteroposterior
radiograph of the same child
after delivery shows a
hypoplastic left proximal
angulation
acetabulum
=-
femur with slight varus
a shallow
and laterally
dislocated femoral head IIlI!l
(not ossified). Note the
femur length discrepancy as
wellE!l:l.
7
11
SEVERE LIMB SHORTENING
DIFFERENTIAL DIAGNOSIS • Osteogenesis Imperfecta

o Multiple subtypes with most severe
Common manifestations in perinatal lethal type II
• Thanatophoric Dysplasia o Micromelia
• Osteogenesis Imperfecta o Generalized decrease in ossification of all
• Diabetic Embryopathy bones
less Common o Multiple fractures in utero
• Achondrogenesis o Ribs with "beaded" appearance due to
• Limb Reduction Defect fractures
o Bones with irregular angulation due to
Rare but Important fractures
• Hypophosphatasia o Superb visualization of brain by ultrasound
• Homozygous Achondroplasia due to underossified calvarium
• Amelia, Micromelia • Diabetic Embryopathy
o Uncontrolled diabetes is most common
ESSENTIAL INFORMATION human teratogen
o Femoral hypoplasia common
Key Differential Diagnosis Issues manifestation of embryopathy
• Is the shortening limited to a single bone, • Shortening may be severe
single limb, or generalized? o Usually bilateral but may be asymmetrical
• Are the long bones mildly shortened (1-3 o Preaxial polydactyly
standard deviations below the mean) or o Other structural anomalies involving
severely shortened? central nervous system, heart, skeletal
• Is the ossification normal? common
• Is the calvarium normally shaped? o Caudal regression
• Are there fractures? • More common in uncontrolled diabetes
• Is there angulation or curvature of the long • Sacral agenesis with shortened legs in
bones? fixed, crossed leg "tailor's posture'"
• Are there other structural anomalies?
• Is there a cystic hygroma or hydrops? Helpful Clues for less Common Diagnoses
• Achondrogenesis
Helpful Clues for Common Diagnoses o Severe micromelia
• Thanatophoric Dysplasia o Vertebral ossification absent
o Most common prenatally diagnosed lethal
o Small chest with short flared ribs, severe
skeletal dysplasia pulmonary hypoplasia
o Polyhydramnios, often severe and
o Disproportionately large head with normal
progressive or deficient ossification
o Type I o Hydrops and cystic hygroma common in
• Normally shaped calvarium early gestation
• Micromelia o Type IA most severely affected with
• "Telephone receiver" femur unossified spine and skull, multiple rib
• Normal ossification, without fractures fractures
• Platyspondyly o Type IB without rib fractures
• Small chest with short ribs o Type II with normal skull ossification but
• Trident hand unossified spine
• Other malformations rare • Limb Reduction Defect
o Type II
o May affect any segment of any limb
• Cloverleaf-shaped calvarium o Usually single limb affected
(Kleeblattschadel) o Varying degrees of limb shortening
• Femora slightly longer and straighter o Longitudinal, intercalary and terminal
than type I transverse defects possible
• Other features similar to type I
7
12
SEVERE LIMB SHORTENING ~
c
Ul
n
c
• Greatest shortening with transverse o Micromelia: Shortening of both proximal 0-
Ul
defects and distal segments of limb ':It:
o
o
May be seen with varicella exposure
Amniotic band related amputation may
• Association with severe, generalized
syndromes
..
CD
CD
!!!.
have similar appearance • High risk perinatal lethality
o Phocomelia: Shortening of limb with hand
or foot arising near trunk
• Hypophosphatasia
o 3 main subtypes: Perinatal, infantile, adult Other Essential Information
onset • Most important approach in prenatal
o Perinatal onset associated with most severe evaluation of short limbs is to determine
limb shortening lethal vs. non-lethal condition
o Micromelia and hypomineralization, often • Severity of limb shortening and chest size
severe, often lethal most informative
o Long bones thin and bowed • Severe limb shortening associated with
o Calvarium may be severely underossified evidence of a generalized chondrodystrophy
• Homozygous Achondroplasia usually lethal
o Autosomal dominant • Small chest correlated with risk of
o Both parents must have achondroplasia pulmonary hypoplasia
• 1/4 offspring with homozygous • Severe polyhydramnios common in lethal
achondroplasia (lethal) conditions
• 1/4 with average stature (unaffected) • Pattern of involvement is critical in
• 1/2 with achondroplasia (heterozygous) formulating differential diagnosis
o Limb shortening severe, onset in the o Are limb anomalies symmetric or
mid-trimester asymmetric?
o Chest is very small with associated o Are upper or lower limbs more severely
pulmonary hypoplasia affected?
• Amelia, Micromelia o Are the hands and feet present or absent;
o Amelia: Absence of 1 or more limbs normal or abnormal?
• Tetra-amelia rare • Careful evaluation for other non-skeletal
• Associated anomalies very common anomalies
(cardiac, orofacial clefts, genitourinary) • Search for evidence of amniotic bands
• High risk pulmonary hypoplasia,
perinatal death
Clinical photograph shows a stillborn infant with

thanatophoric dysplasia (TO). Micromelia" and a
Coronal ultrasound shows a characteristic
hand"
"trident"
of a fetus with thanalophoric dysplasia.
7
"trident" hand ElllI are seen. The chest is bell-shaped
~ 13
Thanatophoric Dysplasia
(Left) Ultrasound shows the
=
very short radius and ulna
in the forearm of a
mid-trimester fetus with TO.
shows the normally ossified
calvarium of a mid·lrimester
fetus with TO. The parietal
prominences =
seen are
characteristic of the
"cloverleaf-shaped" skull
seen in type /I TO.
shows the body of a stillborn
fetus with type /I TO. The
very short limbs ~ are
characterized by straighter
long bones than is typical of
=
type I TO. The narrow chest
is also seen. (Right)
Anteroposterior radiograph
shows the typical "telephone
receiver" femora •.
platyspondyly ~ and
spiculations IIll of the iliac
wings in a stillborn infant
with type I TO.
angulated femur =
of a late
gestation fetus with type IV
osteogenesis imperfecla. The
bone is quite thin. (Right)
Sagittal radiograph shows the
severely underossified
calvarium E!lI of a stillborn
infant with perinatal lethal or
type /I osteogenesis
imperfecta (01). The short
angulated humerus
typical "beaded"
and=
appearance of the ribs
are due to multiple fractures.
7
14
SEVERE LIMB SHORTENING ~
C
f/l
n
c
0"
f/l
~
(Left) Anteroposterior
..
CD
ii"
!!!.
radiograph shows the pelvis
and legs of a liveborn infant
with type IV osteogenesis
imperfecta. Note the
angulated left femur and
the straight right femur ~
Generalized osteopenia is
also seen ~ (Right) Axial
unusual appearance of the
hypomineralized calvarium
of a fetus with a non-lethal
form of 01. The flattening of
the lateral skull •• is due to
normal pressure from the
ultrasound transducer.

shows bilateral femoral
hypoplasia ~ in the infant
of a poorly controlled
diabetic mother. Preaxial
polydactyly is also seen.
orofacial cleft" in a fetus
with holoprosencephaly
related to poorly controlled
diabetes. The tongue E!lI is
seen protruding from the
cleft.
radiograph shows multiple
severe skeletal anomalies in
an infant with diabetic
embryopathy. Multiple
segmentation abnormalities
anomalies =
of the spine ffi rib
and dysplastic
femurs III are seen. Tibial
aplasia E!lI is noted in the
distal/ower extremities.
(Right) Sagittal radiograph
shows sacral agenesis = in
an infant of a poorly
controlled diabetic. The
infant also had an
imperforate anus and
bilateral short femora.
7
15
Diabetic Embryopathy Diabetic Embryopathy

shows a severely dysplastic
lower extremity HI in a
stillborn mid-trimester fetus
with diabetic embryopalhy.
Preaxial polydactyly ~ is
also seen, as well as
syndactyly of toes 5-6
(Right) Lateral clinical
=
fetus with bilateral microtia
and micrognathia EB
shows severe
hypomineralization 11II in the
spine of a fetus with
achondrogenesis. The small
chest BI and protuberant
abdomen IIlI are also seen.
shows the underossified
spine" in the same fetus
with achondrogenesis.
Achondrogenesis
shows the typical
appearance of a stillborn
infant with achondrogenesis.
Note the severe micromelia
EB hypoplastic midface III
disproportionately large head
~ and small chest •.
(Right) Ultrasound shows
severe lower extremity
micromelia in a fetus with
=
achondrogenesis. The foot
BI
is as long as the entire leg
7
16
SEVERE LIMB SHORTENING 3:
c::
III
('l
c::
0"
III
~
.•
CD
CD
!!!.
radiograph shows a severely
shortened radius 11III and
ulna and missing hand 11III in
an infant with a terminal
transverse limb defect. This
fetus had fetal varicella
syndrome. (Right) Clinical
photograph shows a term
infant with a terminal
transverse limb defect
attributed to amniotic bands.
Rudimentary digits are
seen.
Amelia, Micromelia
(LehJ Axial ultrasound shows
a severely hypomineralized
calvarium. in a fetus with
hypophosphatasia. (Right)
Sagittal oblique radiograph
shows a stillborn infant with
tetra-amelia. The shoulder
girdle 11III and pelvis IIlEI are
severely dysplastic. All four
extremities are absent.
Amelia, Micromelia Am!!lia, Micromelia

radiograph shows the thorax
of a term infant with upper
extremity amelia HI. Lower
extremity phocomelia with
severe limb shortening was
present. (Right) Clinical
infant with upper extremity
amelia. Both arms are
missing ffi The chest
musculature is hypoplastic
and asymmetric 11:I.
7
17
ANGUlATED BONES
DIFFERENTIAL DIAGNOSIS o Deformable skull with pressure from

ultrasound transducer
Common o Non-lethal types associated with less severe
• Thanatophoric Dysplasia limb shortening, fewer in utero fractures
• Osteogenesis Imperfecta o Progressive deformation, shortening may
• Diabetic Embryopathy occur in type III/IV
less Common o Type III/IV may present with isolated bent
• Campomelic Dysplasia femur in utero
• Kyphomelic Dysplasia o Size of chest correlated with risk of lethal
• Abnormal Joint Angulation outcome
• Diabetic Embryopathy
Rare but Important
o Uncontrolled diabetes most prevalent
• Hypophosphatasia human teratogen
• Fetal Trauma o Abnormal femur common
• Usually bilateral femur abnormality, but
ESSENTIAL INFORMATION often discordant
• Short, angulated or curved femur
o Associated tibia-fibula abnormality
• Are there fractures? o Preaxial polydactyly
• Is the ossification normal? o Other structural defects common in
• Is the angulation mid-shaft or at a joint? uncontrolled diabetes
• Is the distal limb normal?
• Cardiac
• Is one limb affected or all? • Central nervous system: Anencephaly,
• Are both segments of the limb affected? holoprosencephaly, spina bifida
• Are the abnormalities limited to the long • Anorectal malformation
bones or are other skeletal elements
affected? Helpful Clues for less Common Diagnoses
• Are there other structural anomalies? • Campomelic Dysplasia
o Severe angulation of femora, tibiae, fibulae
• Anterolateral bowing especially common
• Thanatophoric Dysplasia o Scapula absent or hypoplastic
o Micromelia
o XY sex reversal (male to female) or
o Normal ossification
ambiguity
o No fractures
• Genotypic males appear phenotypically
o Short ribs with bell-shaped thorax
as females
o Platyspondyly
o Lumbar kyphosis common
o No fractures
o "Telephone receiver" femur in type I
o Bell-shaped chest
o Normal calvarium in type I
o Kyphoscoliosis
o Femora less curved in type II
o 1st trimester cystic hygroma or increased
o Cloverleaf-shaped skull (Kleeblattschadel)
nuchal translucency
in type II
o Characteristic skin dimpling over area of
o Polyhydramnios often severe and
angulation
progressive in the second trimester • Kyphomelic Dysplasia
o Other anomalies rare
o Normal chest size
o Lethal within first few hours-to-days of life
o Less severe long bone shortening
• Osteogenesis Imperfecta o Angulation or curvature of long bones
o Fractures a prominent feature
o Decreased ossification of all bones
o No fractures
o Type II (perinatal lethal) with extensive in
• Abnormal Joint Angulation
utero fractures, limb deformities o Fixed vs. moveable joint
o "Beaded" ribs due to healing fractures
7
18
ANGULATED BONES 3:
c:
UI
C'l
c:
o Normal distal extremity associated with o Undermineralization of calvarium results o
UI
dislocated joint in brain being seen "too well" on ~
CD
• Knees, hips most commonly affected ultrasound
o Perinatal lethal type with prominent
..•
CD
!.
• Movement at the joint often observed in
utero despite dislocation midtrimester ultrasound findings of severe
• May be unilateral or bilateral undermineralization and micromelia of all
• May be associated with fetal long bones and calvarium
malpresentation o In general long bones thin and bowed
• Prolonged dislocation may result in with absent posterior shadowing
dysplastic joint o Spurs often seen along mid-shaft of long
o Abnormal distal extremity often associated bones
with abnormal joint or proximal bone • Fetal Trauma
• Joint usually without spontaneous o Isolated fractures due to fetal trauma rare
movement in absence of severe maternal trauma
• Wrist most commonly affected, but Other Essential Information
ankle also possible • Distinguish between angulated bones and
• Angle of deviation predicts which bone angulated joints when evaluating the fetus
is hypo- or aplastic; angulation is toward • Curvature of multiple bones predicts
the hypoplastic element generalized osteochondrodystrophy
• Radial deviation associated with o Severity of associated limb length
hypoplasia or aplasia of radius and shortening and chest size will predict
thumb lethal vs, non-lethal skeletal dysplasia
• Ulnar deviation less common; associated
with ulnar hypoplasia Alternative Differential Approaches
• Tibial or fibular hypoplasia or aplasia • Presence of fractures of major importance
associated with fixed angulation of ankle o Consider osseous fragility syndromes
• Associated oligodactyly common including osteogenesis imperfecta and
hypophosphatasia
Helpful Clues for Rare Diagnoses o Severity and number of in utero fractures
• Hypophosphatasia may help distinguish lethal vs. non-lethal
o Multiple sub-types including perinatal
disorder
lethal, infantile and late onset (adult) o Rib fractures without long bone fractures
o In general the later the onset, the less
seen in type IA achondrogenesis
severe the clinical course
Coronal ultrasound shows a short, curved, "telephone

receiver" femur E!lI seen in type I thanatophoric
Clinical photograph shows the same infant after birth.
Note the normally shaped, but disproportionately large
7
calvarium ffi micromelia IdL small chest and
dysplasia (TO).
trident hands=. 19
-
c;
~
Ql
...:
Ul
ANGUlATED BONES
o
:l
U
Ul
:l Thanatophoric Dysplasia Thanatophoric Dysplasia
~ (Left) Anteroposterior
radiograph shows the short
curved femur ~ typical of
type I TO. Note also the
spicules on the inferior iliac
wing and the
platyspondyly involving
the lumbar spine. (Right)
Sagittal ultrasound shows
lumbar lordosis E!lI in a fetus
with thanatophoric
dysplasia. The platyspondyly
•• is also prominent.
(Left) Sagittal radiograph

shows Hbeaded" appearance
of the ribs due to
multiple healing fractures,
typical of perinatal lethal
osteogenesis ;mperfecla
(01). Irregular curvature of
the humerus ~ and femur
is also due to multiple
fractures. (Right) Ultrasound
shows a curved femur III
with callus formation E!lI due
to a healed fracture in a fetus
with type IV 01.
Osteogenesis Imperfecta
shows typical appearance of
the lower extremities in
perinatal lethal 01 type If.
Pseudoarthroses ~ are due
to multiple fractures in utero.
shows bowing of the lower
leg" in a fetus with type IV
osteogenesis imperfecla.
7
20
ANCULATED BONES 3:
c
III
C'I
c
0'
III
~
..
CD
Ii"
III
radiograph shows a
midtrimester fetal/ass of a
poorly controlled diabetic.
Note bilateral hypoplastic
femora" angulation of one
femur IIlll and sacral
agenesis ~ (Right) Clinical
fetus. In addition to the
femoral hypoplasia •.
extremities appear quite
atrophic. There is a clubfoot
11II and complex syndactyly
of the toes E!lI. The genitalia
are ambiguous ~ and an
imperforate anus was
present
shows severe lower extremity
anomalies in the infant of a
poorly controlled diabetic.
Femoral hypoplasia with
absent tibia and fibula,
abnormal angulation of the
"ankle" ~and preaxial
polydactyly 11II are seen in
this infant. (Right) Coronal
T2WI MR shows the
monoventricle of alobar
holoprosencephaly 61 in a
fetus of a mother with poorly
controlled diabetes.
Campomelic Dysplasia
shows mid shaft angulation
of the femur 11II in a
midlrimester fetus with
campomelic dysplasia. The
bone is normally ossified and
without evidence of
fractures. Prominent
angulation of the tibia and
fibula was also noted. (Right)
Coronal oblique radiograph
shows typical hypoplastic
scapulae HI in a newborn
infant with campomelic
dysplasia. The chest is mildly
bell-shaped and ossification
is normal.
7
21
ANGUlATED BONES
Kyphomelic Dysplasia
shows an angulated femur
1:1 in a fetus diagnosed after
birth with kyphomelic
dysplasia. Ossification is
normal, and no fractures
were seen in the mildly
shortened long bones.
(RighI) Coronal ultrasound
shows a normally ossified
scapula E!lI in the same fetus
ruling out campomelic
dysplasia.
Abnormal Joint Angulation Abnormal Joint Angulation

(Lefl) Ultrasound shows a
fetus with absent ulna =
hypoplastic radius E!lI, fixed
ulnar deviation of the wrist,
and abnormal hand _ The
defect was bilateral and
limited to the upper
extremities. (RighI) Clinical
infant with symphalangism at
birth. Note the ulnar
deviation of the wrists ~
and the oligodactyly of the
hands ~ The infant was
otherwise normal.
Abnormal Joint Angulation Abnormal Joint Angulation

(Lefl) Coronal ultrasound
shows unilateral fibular
hemimelia with a fixed
laterally deviated ankle joint
= The tibia is short and
dysplastic E!lI, while the
fibula appears to be absent.
Oligodactyly of the foot is
seen I!I:I. (RighI) Clinical
photograph shows an infant
with a radial ray defect with
a radially deviated wrist E!lI
due to an absent radius. The
ulna was also hypoplastic
and the thumb was absent.
=
Other digits also appear
dysplastic
7
22
ANGUlATED BONES ~
C
(II
n
c
o
(II
~
CD
Abnormal Joint Angulation
(Left) Sagillal uluasound
..•
if
!!.
shows a congenitally
dislocaled knee HI wilh
hyperexlension of the lower
leg=. FirSI nOled allhe
patient's 18 week
ullrasound, Ihe fetal leg,
including the join I, moved
but never was seen in a
normal position. (Right)
Clinical pholograph shows
Ihe same fetus al birlh wilh a
congenitally dislocated knee
~ Splinting therapy was
unsuccessful, and Ihe infant
required surgical correction.
(Left) Ullrasound shows a

curved femur =in a
mid-trimester fetus with the
infanlile form of
hypophosphalasia. Allhis
gestation, the ossification
appears nearly normal.
(Right) Coronal uluasound
shows complex curvature =
of Ihe humerus in the lale
2nd trimester in the same
fetus wilh hypophosphalasia.
The abnormal angulation is
likely due 10 healed
fractures.
Fetal Trauma
(Left) Clinical pholOgraph
shows severe maternal
abdominal bruising IIIlII from
a molor vehicle accident
(Right) Clinical pholOgraph
shows complele placental
abruption HI wilh death of
Ihe fetus, due to direcl
maternal abdomina/trauma
in a motor vehicle accident.
Fetal fractures are
uncommon in the absence of
significant maternal trauma.
7
23
ABNORMAL OSSIFICATION
DIFFERENTIAL DIAGNOSIS o Fractures rare in utero; may occur at the

time of birth
Common • Osteogenesis Imperfecta
• Arthrogryposis, Akinesia Sequence o Perinatal lethal form with multiple
• Osteogenesis Imperfecta fractures in utero
Less Common o "Beaded" appearance of ribs due to
• Achondrogenesis multiple fractures
• Hypochondrogenesis o Deformable calvarium due to
underossification
Rare but Important
• Hypophosphatasia Helpful Clues for Less Common Diagnoses
• Atelosteogenesis • Achondrogenesis
o Large calvarium, micromelia
o Severely decreased ossification of spine,
ESSENTIAL INFORMATION calvarium in lA, IB
Key Differential Diagnosis Issues o Rib fractures in type IA; none in IB
• Are there fractures? o Normal cranial ossification, absence of rib
o Presence or absence of fractures most fractures in type II
important clue for differential • Hypochondrogenesis
• Are the fractures generalized or limited to a o Part of a spectrum of achondrogenesis type
portion of the skeleton (e.g., ribs)? II, but less severe findings
• Do the long bones appear short? o Fractures rare
• If short long bones, is there micromelia? Helpful Clues for Rare Diagnoses
• Is there angulation or curvature of the long • Hypophosphatasia
bones without fractures? o Generalized lack of ossification
• Is the underossification generalized or o Calvarium poorly ossified
limited to part of the skeleton? o Small thorax, short limbs
• Is the calvarium involved? o Fractures rare, but may involve ribs which
• Does the fetus move normally or is there may have a "rachitic rosary" appearance
evidence of arthrogryposis/akinesia? • Atelosteogenesis
Helpful Clues for Common Diagnoses o Severely underossified humerus, fibula,
• Arthrogryposis, Akinesia Sequence femur; bowed tibia
o Lack of movement - decreased o Narrow thorax, proximal limb shortening
mineralization
Arthrogryposis, Akinesia Sequence
7 Ultrasound shows the clenched hand =:I of a

mid-trimester fetus with fetal akinesia sequence. Note
Ultrasound shows hyperextended elbows =:I and flexed
wrists HI of another mid-trimester fetus with akinesia
the lack of ossification of the bones of the forearm HI. sequence. The bones appear thin !Ill but without
fractures.
24
ABNORMAL OSSIFICATION 3:
c
III
n
c
0"
III
~

..
CD
iD
!!!.
the chest of a third trimester
fetus with type II
osteogenesis imperfecta. The
chest is small with obvious
displaced rib fractures 1IllI.
shows the underossified
calvarium IIllI that appears
flattened by the pressure of
the ultrasound transducer.
Note also the fracture of the
humerus E!lI and thinning of
the bones IIllI of the distal
upper extremity.
Achondrogenesis
shows a mid-trimester fetus
with achondrogenesis. Note
the severely underossified
spine III (Right) Sagittal
ultrasound shows the small
chest E!lI of a third trimester
fetus with
hypochondrogenesis.
Underossification of the
spine is also seen 11II.
Platyspondyly is apparent
11III.
Hypochondrogenesis
shows short, straight ribs IIllI
;n a fetus with
hypochondrogenesis. No
fractures are seen. (Right)
Uhrasoundshowsthe
Forearm of a third trimester
fetus with hypophosphatasia.
The significant
underossification of the
bones of the hand. and
forearm E!lI can be seen.
7
25
-
ii
Gl
'ii
.a:
RADIAL RAY MALFORMATION
Associated hydrocephalus (aqueductal

'"
.2
:J
DIFFERENTIAL DIAGNOSIS o
U
stenosis) also reported and may be familial
Common • Trisomy 18
'"
:J
~ • Isolated o Severe prenatal onset growth restriction
• VACTERLAssociation o Multiple anomalies common including
• Trisomy 18 cardiac, gastrointestinal, central nervous
• Diabetic Embryopathy system, skeletal
• Syndromal o Bilateral radial ray defect, often discordant
Less Common in severity
• Holt Oram Syndrome o Thumbs may be absent or abnormal with
• Thrombocytopenia-Absent Radius Syndrome radial hypoplasia/aplasia
• Fanconi Anemia • Diabetic Embryopathy
• Fetal Valproate Syndrome o Risk highest in poorly controlled diabetic
o Multiple anomalies common including
Rare but Important
skeletal, cardiac, central nervous system,
• Cornelia de Lange Syndrome renal
• Roberts Syndrome o Preaxial polydactyly
• Aase Syndrome
• SyndromaI
o Radial ray defects found in many
ESSENTIAL INFORMATION syndromes
o May be seen with other structural
anomalies without a unifying diagnosis
• Is the anomaly unilateral or bilateral?
• Is there radial or ulnar deviation of the Helpful Clues for Less Common Diagnoses
wrist? • Holt Oram Syndrome
o Direction of deviation will predict the o Bilateral upper extremity defects with
particular bony abnormality of the forearm cardiac anomaly
• Are there other skeletal anomalies present? o Lower extremities uninvolved
• Are the thumbs present or absent? o Wide spectrum of upper extremity
• Does the fetus move normally, or is there malformation
evidence of arthrogryposis of other joints? • Radial aplasia, hypoplasia, phocomelia
• Are there other structural anomalies? (10%)
• Is there a relevant family history? • Thumb: Absent, hypoplastic,
• Is the fetus normally grown? triphalangeal, bifid
• Asymmetry of defects, with those on the
left more severe
• Isolated • Other anomalies of upper limbs common
o Unilateral or bilateral abnormality
including narrow shoulders,
o Variable thumb defects including absence,
clinodactyly, syndactyly, defects of ulna,
triphalangeal, hypoplastic humerus, clavicle, sternum
• VACTERL Association o Range of cardiac defects; ventricular septal
o Nonrandom association of defects, usually
defect and atrial septal defect (secundum)
sporadic most common
• Vertebral anomalies • Conduction defects
• Anorectal malformation • Thrombocytopenia-Absent Radius
• Cardiac defects Syndrome
• Tracheoesophageal fistula with o Radial aplasia in 100%
esophageal atresia o Variable degrees of hypoplasia, absence of
• Radial ray anomaly with or without ulnae, humeri
thumb abnormality o Thumbs always present
• Renal anomaly o Abnormal shoulders
7
26
RADIAL RAY MALFORMATION ~
c:
en
n
c:
o Variable anomalies of the lower o Radial hypoplasia/aplasia with abnormal 0'
en
extremities in 50% thumbs ~
o 1/4-1/3 with cardiac anomalies,
predominantly atrial septal defect or
o Long philtrum with micrognathia seen on
prenatal ultrasound
..
11l
iD
!!!.
tetralogy of Fallot o Other structural anomalies including
o Hematologic abnormalities may be severe cardiac anomalies and diaphragmatic
in early infancy hernia
o Autosomal recessive • Roberts Syndrome
o Prenatal or postnatal diagnosis confirmed o Varying degrees of limb deficiency varying
by inducible chromosomal breakage from tetra-amelia to tetraphocomelia to
• Fanconi Anemia less severe limb reduction defects
o Prenatal onset growth restriction, o Radial aplasia/hypoplasia in majority
including microcephaly o Severe prenatal onset growth restriction
o Radial ray defect in half of cases with microcephaly
o Varying degrees of thumb abnormality o Cleft lip with or without cleft palate
including hypoplasia, aplasia, o Premature centromere separation in most
triphalangeal, duplication cases confirms diagnosis
o Renal anomalies o Autosomal recessive
o Hematologic abnormalities manifest in • Aase Syndrome
childhood o Radial hypoplasia, triphalangeal thumbs
o Autosomal recessive o Diamond-Blackfan anemia (pure red cell
• Fetal Valproate Syndrome aplasia)
o Limb anomalies in 45-65%, including
radial ray defects • Association of radial ray anomalies and
o Neural tube defect in 1-2% hematologic disorders
o Prenatal growth restriction
o Awareness at delivery important
Helpful Clues for Rare Diagnoses • Association of radial ray anomalies and
• Cornelia de Lange Syndrome cardiac malformations
o Severe prenatal onset growth deficiency o Fetal echocardiography indicated
o Variable degrees of upper limb deficiency • 86% of patients with hypoplastic thumbs
including oligodactyly, phocomelia, have other anomalies
micromelia • Careful search for other anomalies essential
for syndromal diagnoses
VACTERl Association
Ultrasound shows an isolaled radial ray defect in a

mid-trimester fetus. The angulation of the wrist III ;s
Coronal ullrasound shows multiple segmentalion
defects 1m of the lower spine in a feWs with VACTERL
7
seen as well as a single bone in the forearm 11II. This syndrome. Bilateral radial ray defects were a'so present.
felus was otherwise normal. 27
RADIAL RAY MALFORMATION
Trisomy 18
(Left) Clinical photograph at
autopsy shows the typical
appearance of a radial ray
defect in a fetus with trisomy
18. The forearm is shortened
E!il and there is acute radial
angulation at the wrist •.
The thumb is missing, and
there is 2-3 syndactyly lID
(Right) Radiograph shows a
stillborn fetus with severe
diabetic embryopathy.
aplasia is noted =-
Complete radial/ulnar
as well
as oligodactyly Ea. The
humerus is also shown P.lII:I.
Diabetic Embryopathy Syndromal

shows a radial ray defect in a
term infant with diabetic
embryopathy. Radial
deviation 1:2 is due to radial
hypoplasia. The infant also
had microtia and imperforate
anus. (Right) Ultrasound
shows a radial ray defect in
an acardiac fetus (twin
reversed arterial perfusion
sequence). The single bone
in the distal arm Ea and
abnormal hand 1:2 are
noted.
Holt Oram Syndrome Holt Oram Syndrome

shows the hand of a woman
with Holt Dram syndrome.
Absence of thumb and
thenar hypoplasia are noted
1:2. Abnormal palmar
creases are seen ffi
Clinodactyly is also present
E!il (Right) Clinical
photograph shows the hands
of the infant of the same
woman, also diagnosed with
Holt Dram syndrome. A
proximally implanted
triphalangeal thumb is noted
lID Thenar hypoplasia is also
present" as well as mild
radial hypoplasia.
7
28
RADIAL RAY MALFORMATION ~
C
III
C'l
c
0"
III
Thrombocytopenia-Absent Radius ~
Thrombocytopenia-Absent
Syndrome
Radius
Syndrome
.•
CD
CD
!!!.
radial ray defect in a fetus
with
thrombocytopenia-absent
radius syndrome (TAR).
Radial hypoplasia HI is
noted. Important in the
diagnosis of TAR is the
presence of thumbs •.
(Right) Ultrasound shows the
bilateral abnormal lower
extremities of a fetus with
thrombocytopenia-absent
=
radius syndrome. Clubfeet
are noted as well as a
single bone in the lower
extremities HI.
Fanconi Anemia
arm of a fetus diagnosed
postnatally with Fanconi
anemia. The hypoplastic
forearm HI and severe radial
hand =
angulation of the wrist and
are seen. (Right)
Ultrasound shows a 2nd
trimester fetus with severe
valproate embryopathy.
Bilateral radial ray defeclS
with radial aplasia E!ll fixed
radial deviation of the wrist
III and absent thumbs are
noted. Sacral spina bifida,
microcephaly, and
dysmorphic facies were also
present.
Cornelia de Lange Syndrome Cornelia de Lange Syndrome

severely abnormal upper
limb in a mid-trimester fetus
with Cornelia de Lange
hypoplasia =
syndrome. Radial and ulnar
and
monodactyly 1m are noted.
(RighI) Clinical photograph
shows a close-up of the limb
reduction defect with
monodactyly. Note the
formed fingernail III
7
29
ABNORMAL FOOT
DIFFERENTIAL DIAGNOSIS o May be associated with dorsiflexed great

toe, short hallux
Common o Look carefully for other anomalies
• Clubfoot associated with trisomy 18
• Rockerbottom Foot • Persistently clenched hands or
• Sandal Gap Foot overlapping digits
• Edema of Feet and Extremities • Sandal Gap Foot
less Common o Gap between great toe and 2nd toe
• Amniotic Band Syndrome o May be normal finding with fetal "flare" of
• Ectrodactyly toes while moving feet
• Abnormal Toes o Look for persistence of gap even when
• Terminal Transverse Limb Defect fetus at rest
o Most often seen in normal fetuses but is a
Rare but Important
minor marker in trisomy 21
• Sirenomelia • Edema of Feet and Extremities
• Amelia, Micromelia o Pattern of edema important for
establishing differential diagnosis
ESSENTIAL INFORMATION o Edema of extremities vs. body edema
o Unilateral edema concerning for
obstructive phenomenon such as amniotic
• Is the anomaly an isolated finding? bands or tumor
• Are there multiple anomalies?
• Bilateral vs. unilateral Helpful Clues for less Common Diagnoses
• Are hands similarly affected? • Amniotic Band Syndrome
• Is the finding associated with abnormal or o Amputations of digits or feet/hands
lack of fetal movement? o Usually asymmetrical
o Lack of movement within the amniotic o Associated disruptions of face, calvarium,
cavity? body wall
o Does the fetus appear "stuck" to the o Constriction rings of extremities
placenta? o Adherence to placenta in severe cases
o Extremity edema distal to constriction
band is common
• Clubfoot • Ectrodactyly
o Plane of imaging important
o Split hand-split foot malformation
• Coronal view: Ankles should be straight • Fusion of digits with deep median cleft
• Lateral view: Bones of foot and ("lobster claw")
tibia/fibula should not be seen in same o May be unilateral or bilateral
plane o May involve upper, lower, or both
• "Footprint" view: Clubfoot associated o Variable appearance between extremities
with abnormal shape/shortening
• Abnormal Toes
o Bilateral vs. unilateral
o Polydactyly
o Limitations to diagnosis
• Often difficult to diagnose, especially in
• Gestational age: Clubfoot difficult to early gestation
diagnose past 2nd trimester
• Foot usually appears wider than normal
• Oligohydramnios • Look at hands for extra fingers
• Crowding in multiple gestation • Post-axial more common than pre-axial
• Footling breech position limits except in diabetic embryopathy
visualization of feet o Syndactyly
• Rockerbottom Foot • Usually not diagnosed prenatally
o Prominent heel associated with rounded
• May be associated with abnormal shape
bottom of foot of foot
o Best seen in lateral view
o Oligodactyly
7
30
ABNORMAL FOOT 3:
c
l/l
n
c
• Foot appears narrow • Multiple other anomalies including 0-
l/l
• Often associated with abnormality of cardiac, orofacial, extremity ~
tibia or fibula
• Abnormal position of foot common
• Terminal Transverse Limb Defect
• Severe growth restriction the rule by late
2nd trimester
o Trisomy 21
-
Cll
CD
III
o Varying degree of limb deficiency • Extremity findings are often subtle "soft
o May be seen with congenital varicella marker" findings
infection • Extremity anomalies: "Sandal gap" foot &
Helpful Clues for Rare Diagnoses clinodactyly, short humeri & femora
• Sirenomelia • Pattern of edema in hydrops rarely
o Legs may appear "stuck" together
involves hands and feet
o Single femur or fewer than 4 lower
• Increased nuchal thickening in 2nd
extremity long bones valuable clues trimester
o Foot/feet may be absent, single, or a
• Flat mid-face with hypoplastic nasal
complex fusion of structures bone common
o Usually associated with bilateral renal
• May see tongue thrusting behavior in 3rd
agenesis trimester
o Turner syndrome
o May be difficult to visualize due to
oligohydramnios • Pattern of edema characteristic
• Amelia, Micromelia • Edema of the dorsum of hands & feet
o Extremities may be absent (amelia) vs.
• Anasarca common
severely shortened (micromelia) • Often with large cystic hygroma
o May be limited to upper or lower
• Female gender
extremities • Fetus with multiple anomalies: Transfer of
o Digits may be present
care to a tertiary care center
o Symmetrical micromelia associated with Alternative Differential Approaches
severe skeletal dysplasias • Clubfoot with abnormal calvarium shape:
Other Essential Information Neural tube defect
• If multiple anomalies, consider aneuploidy • Severe foot and extremity edema with cystic
syndromes hygroma: Turner syndrome
o Trisomy 18
• Rockerbottom feet with other anomalies and
• Rockerbottom feet classic finding growth restriction: Trisomy 18
• Hands with overlapping digits
Clubfoot Clubfoot
Coronal
fetus.
ultrasound
The bones
shows a clubFoot
of the distal lower
in a mid-trimester
extremity BI are
Clinical photograph shGNS
was bHateral in this infant.
a severe clubfootlCB which
7
seen in the same plane as those of the foot III.
31
ABNORMAL FOOT
Clubfoot
shows a posterior view of the
leg. Note the inward
deviation the heel and foot
=. The fetus had abnormal
in utero movement and
tested positive for myotonic
dystrophy. (Right) Clinical
photograph shows a
unilateral clubfoot EE and
shortened extremity in an
infant with multiple unilateral
anomalies.
Clubfoot Rockerbottom Foot

clubfeet =
shows severe bilateral
in a
mid-trimester (etus with (etal
akinesia sequence. The
persistent "scissored"
posture BII of the legs is
commonly seen in fetuses
with hypertonia or
neurologic abnormality.
shows bilateral rockerbottom
feet in a premature stillborn
neonate with trisomy 13.
Note the prominent
calcaneus and dorsiflexed
great toes.

the lower leg shows a
prominent heel. with a
rounded appearance to the
bottom of the foot E!il
characteristic of
rockerbotlom foot. (Right)
rockerbottom foot in a
full-term newborn with
wrinkled skin =
trisomy 18. Note the
due to the
lack of subcutaneous tissue
in this growth restricted
infant. The great toe IdJ
appears short because of a
short 1st metatarsal.
7
32
ABNORMAL FOOT 3:
c
Ul
n
c
0"
Ul
~
-
ell
Sandal Gap Foot Sandal Gap Foot CD
(Left) Ultrasound shows a III
typical appearance in the
mid-trimester of a sandal gap
foot in a fetus with trisomy
2 I. Note the gap between
the 'st and 2nd toes •.
shows bilateral sandal gap
feet in a stillborn
mid-trimester Fetus with
trisomy 2 I. The gap =:I
between the great and
second toes can be seen.
Edema of Feet and Extremities Edema of Feet and Extremities

(Left) Lateral ultrasound
shows the lower extremities
in a fetus with severe
hydrops due to monosomy X
(Turner syndrome). The
dorsal pedal edema =:I and
edema of the lower leg iii
are characteristic. (Right)
mid-trimester fetal demise
with Turner syndrome.
Hydrops is apparent with a
huge cystic hygroma iii and
a protuberant abdomen =:I
due to ascites. Edema of the
dorsum of the hands and feet
1:1 is typical in Turner
syndrome.
Edema of Feet and Extremities

shows severe extremity ilia
and dorsal pedal edema 1:1
(all 50ft tissues were equally
affected) in a term newborn
with hydrops due to
supraventricular tachycardia.
Although classically
described with Turner
syndrome, dorsal pedal
edema can be seen with
generalized, severe, diffuse
edema. (Right) Autopsy
photograph of the same
infant shows cardiomegaly
=.. subcutaneous edema
ffi and pleural fluid m
7
33
ABNORMAL FOOT
Amniotic Band Syndrome

(Left) Ultrasound of the right
lower extremity shows a
clubfoot I!lIl with a cleft
created by missing
amputated toes =. Multiple
other extremity and body
deformities were seen,
including acrania, abdominal
wall defect, and facial cleft.
Bands are often tightly
adherent to the fetus and not
visible by sonography.
deformities =
shows the extremity
corresponds
to the finding on ultrasound},
as well as a large abdominal
wall defect.
Ectrodactyly Abnormal Toes

(Left) Ultrasound of the foot
in a mid-trimester fetus
shows a median defect I!lIl
remaining digits
in a "lobster claw"
=
with syndactyly of the
resulting
appearance. This condition

may be either unilateral or
bilateral and may also
involve the hands. (Right)
Radiograph shows complex
polysyndactyly in an infant
with PFeiffer syndrome. Note
fusion of the great toe

and 1st metatarsal E!lI
=
the partial duplication and
Abnormal Toes Abnormal Toes

shows bilateral clubfeet in
this newborn with bilateral
postaxial polydactyly
Note that the feet appear
abnormally wide. (Right)
oligodactyly =
in a foot of a
fetus with tibial hemimelia.
The foot appeared narrow in
comparison with the normal
foot.
7
34
ABNORMAL FOOT ~
C
III
C'l
c
0-
III
~
-
CD
Abnormal Toes Abnormal Toes iD
(Left) Ultrasound shows !.
signilicant brachydactyly =:I
;n this mid-trimester fetus
with a nonlethal skeletal
dysplasia. (Right) Clinical
photograph shows 2-3 toe
syndactyly in this newborn's
loot. 2-3 syndactyly is the
most common type 01
syndactyly and is autosomal
dominant in some families.
The degree ollusion is highly
variable, but it most often
involves only solt tissues.
Terminal Transverse Limb Defect

shows a (ermina/transverse
limb delect ~ in this term
newborn. The anterior
portion 01 the loot, including
the metatarsals and all the
toes, was absent. (Right)
leet =
complex abnormalities 01 the
in this stillborn letus
with bilateral renal agenesis
and sirenomelia.
Sirenomelia
shows the very abnormal
lower extremity in this
sirenomelia. There is a single
lemur BI
leg bone =
and a single lower
without a loot.
shows a newborn with
tetra-amelia. Small mounds
III are noted
of tissue
without any delinable
extremities.
7
35
-
ii
~
Ql
Gi
III
ABNORMAL DIGITS
• Is there evidence of amniotic bands?

.S! DIFFERENTIAL DIAGNOSIS
:l
U
• Does the fetal move normally?
III Common
:l Helpful Clues for Common Diagnoses
::Iii • Polydactyly
o Trisomy 13 • Polydactyly
o Trisomy 13
o Meckel-Gruber Syndrome
o Familial
• Often bilateral, affecting hands and feet,
o Diabetic Embryopathy
but may also be limited to 1 or 2 limbs
• Most commonly postaxial
• Syndactyly
o Familial
• Associated growth restriction
• Other structural anomalies common:
o Triploidy
Orofacial cleft, holoprosencephaly,
o Apert Syndrome
cardiac, omphalocele, genitourinary
o Meckel-Gruber Syndrome
o Carpenter Syndrome
• Classic triad of posterior encephalocele,
• Abnormal Hands
o Clinodactyly
dysplastic kidneys and polydactyly
o Oligodactyly
o Camptodactyly
• May affect any or all extremities
o Familial
o Brachydactyly
o Trident Hand
o Arachnodactyly
• Increased prevalence in African
o Broad Thumbs
Americans
o Radial Ray Malformation
• Hands more commonly affected than
o Clenched Fingers
feet, but may affect all extremities
o Diabetic Embryopathy
• Trisomy 18
• Arthrogryposis, Akinesia Sequence • Preaxial polydactyly
o "Hitchhiker Thumb"
• Multiple anomalies: Cardiac, neural tube
defects, femoral hypoplasia
• Diastrophic Dysplasia
• Abnormal Feet • Syndactyly
o Familial
o Sandal Gap Foot
o Broad Toes
• Most commonly 2-3 toe syndactyly
o Brachydactyly
• Autosomal dominant
o Overlapping Toes
• Usually isolated
Less Common • Pseudosyndactyly
• Ectrodactyly • Often associated with band entwining
digits
ESSENTIAL INFORMATION • Extremities discordant for defects
o Triploidy
Key Differential Diagnosis Issues • Syndactyly of digits 3 and 4 of hands
• Does the abnormality affect upper or lower most common
extremities, or both? • Association with partial molar gestation
• Is the abnormality unilateral or bilateral? • Early onset, severe growth restriction
• Is there an associated hand, foot, or limb • Multiple structural anomalies
anomaly or does the change affect the digits • Maternal severe preeclampsia in the
only? mid-trimester
• Are there other structural anomalies of the • Maternal bilateral, enlarged cystic ovaries
fetus? (theca lutein cysts)
• Are there changes suggestive of a skeletal o Apert Syndrome
dysplasia? • "Mitten" syndactyly of hands and feet
• Is the fetus normally grown or is there • Severe soft tissue and bony syndactyly
associated severe growth restriction? • Coronal craniosynostosis
7
36
ABNORMAL DIGITS 3:
c:
III
o Carpenter Syndrome o Radial Ray Malformation

"c0":
• Complex syndactyly, associated with • Associated with hypoplasia or aplasia of ,..
III
-
CD
broad, deviated toes and thumbs one or both thumbs CD
• Abnormal calvarial shape due to complex • Radial deviation of wrists !.
craniosynostosis • Isolated anomaly vs. part of a syndrome
• Abnormal Hands o Clenched Fingers
o Clinodactyly • Trisomy 18
• 5th finger most common, but can affect • Arthrogryposis/akinesia sequence
any digit o "Hitchhiker Thumb"
• Commonly seen in Down syndrome • Adducted thumb (also great toe)
o Oligodactyly • Seen in diastrophic dysplasia
• Hand or foot may appear "too narrow" • Generalized shortening of all long bones
• May be seen in cases of amniotic bands • Abnormal Feet
• May be an isolated defect vs. part of o Sandal Gap Foot
complex limb reduction defect • Gap between the 1st and 2nd toes
o Camptodactyly • "Soft marker" for Down syndrome
• Inability to fully extend fingers o Broad Toes
• Usually involves multiple fingers • Associated with deviation of toes
o Brachydactyly o Brachydactyly
• Shortened digits • May be associated with brachydactyly of
• Often bilateral; may affect both hands fingers, shortened long bones
and feet o Overlapping Toes
• Common in skeletal dysplasias • May appear "crowded" or "jumbled" on
o Trident Hand ultrasound
• Fingers appear to be of a similar length Helpful Clues for Less Common Diagnoses
• Achondroplasia • Ectrodactyly
• Thanatophoric dysplasia o Split hand-split foot malformation
o Arachnodactyly
("lobster claw")
• Long "spider-like" fingers associated with o Characterized by deficiency/hypoplasia of
Madan syndrome and homocystinuria digits, deep median cleft and fusion of
• Not usually appreciated on prenatal remaining digits
ultrasound o Defects often asymmetrical, discordant
o Broad Thumbs
• ± Abnormal deviation of digit
Trisomy 13
Clinical
polydactyly
photograph shows bilateral postaxial
in an in/ant with a normal karyotype.
Clinical photograph shows a term growth restricted
infant with trisomy 13. Several anomalies are noted
7
This was an isolated finding. including postaxial polydactyly Id! a small ompha/ocele
~ and bilateral oro/adal cle/ts ffi
37
ABNORMAL DIGITS
polydactyly =
shows both preaxial
and
syndactyly 1'.1:I in an inFant
with bilateral Femoral
hypoplasia due to diabetic
embryopathy. Nail
hypoplasia is also noted on
the syndactylous digits.
(Right) Ultrasound shows a
complex hand malFormation
in a mid-trimester fetus.
There is soft tissue
3rd digits =.
syndactyly of the 2nd and
Ulnar
deFiciency resulted in
oligodactyly with missing
digits 4 and 5 81.
Triploidy Clinodactyly
shows overlapping toes =
in a Fetus with syndactyly ..... -
associated with triploidy.
Abnormal leg posture 81
due to sacral agenesis and
• t. . ,;: . a,
ambiguous genitalia'" in ~ •.....
' 1·~·f}
...•" ~4'· ·
'. ,'",
"'/:
lhis male Fetusare also '.# .
evident. (Right) Radiograph
shows lhe hand of an inFanl
with multiple anomalies.
Clinodactyly of the 5th and ~
tf•. _".,,:~i
'.'
2nd Fingers can be seen.

Both abnormalities are
associaled with hypoplasia
of the middle phalanges =. ..•" ,t ...
Also note the shorl broad
thumb 81.
·,·····W"·····,··
"
-..
.. "
~
Oligodactyly Camptodactyly
(Left) Ullrasound shows a
very abnormal hand in a
Fetus with multiple
anomalies. Only 4 digits
were present with absence of
thelhumb=.
Camptodactyly of the
remaining digits was noted.
The ulnar deviation of the
wrist H1 is unusual with a
radial deFiciency. (Right)
wilh absent thumb

camplodactyly of the
=
the same inFant aFter birth
and
remaining digits III
7
38
ABNORMAL DIGITS 3:
c:
(II
n
=.o
(II
~
Trident Hand
(Left) Ultrasound shows very
short toes III in a 3rd
-
11I
CD
!.
trimester fetus with a
nonlethal skeletal dysplasia.
There is a proximally placed,
short great toe IllIl (Right)
significant brachydactyly and
a "trident hand" III in a
stillborn felUs with
thanatophoric dysplasia.
Note the tiny chest ~
associated with severe
Radial Ray Malformation

(Left) Clinical pholOgraph
shows a radial ray
abnormality in an infant with
multiple anomalies. The
thumb is hypoplastic and
deviated. CamplOdactyly
of the other digits is also
apparent. (Right) 3D
ultrasound shows the typical
abnormal hand posture of a
3rd trimester fetus with
trisomy 18. There is a
clenched fist with an
overriding 2nd finger".
Arthrogryposis, Akinesia Sequence Sandal Gap Foot

(Left) Photograph of a
stillborn with fetal akinesia
sequence shows an
adducted, hypoplastic
thumb _ Fingers are
extended, with a wide gap
between 2nd & 3rd fingers
HI The absence of flexion
creases !lID proves lack of
fetal movement in utero.
(Right) US shows a sandal
gap (oot in a mid-trimester
fetus at risk for trisomy 21
based on an abnormal
maternal serum screen. Note
wide gap between 1st & 2nd
toes III. This was persistent
despite fetal movement.
7
39
-
III
Gl
Gi
~
1/1
POLYDACTYlY
.2 DIFFERENTIAL DIAGNOSIS Helpful Clues for Common Diagnoses

:l
U
1/1 Common • Familial
:l o Most commonly postaxial
::E • Familial
• Trisomy 13 o Increased prevalence in African Americans
• Diabetic Embryopathy • Trisomy 13
o Multiple anomalies: Orofacial clefts,
Less Common holoprosencephaly, cardiac, IUGR, AMA
• Meckel-Gruber Syndrome • Diabetic Embryopathy
• Smith-Lemli-Opitz Syndrome o Multiple anomalies: Neural tube defects,
• Carpenter Syndrome holoprosencephaly, anorectal, cardiac
• Asphyxiating Thoracic Dysplasia
Rare but Important • Meckel-Gruber Syndrome
• Short Rib-Polydactyly o Classic triad of polydactyly, posterior
• Ellis-van Creveld encephalocele, dysplastic kidneys
• Majewski Syndrome • Smith-Lemli-Opitz Syndrome
• Mohr Syndrome (Oral-Facial-Digital o Severe early onset IUGR, cardiac defects,
Syndrome) holoprosencephaly, very low estriol
• Bardet-Biedel Syndrome • Carpenter Syndrome
o Craniosynostosis, complex digital
ESSENTIAL INFORMATION anomalies, cardiac anomalies
• Asphyxiating Thoracic Dysplasia
Key Differential Diagnosis Issues o Short horizontal ribs, cystic kidneys,
• Clinical history important postaxial polydactyly, short extremities
o Maternal history of diabetes, advanced
maternal age (AMA) Helpful Clues for Rare Diagnoses
o Family history of polydactyly
• Short Rib-Polydactyly
o Pre- and postaxial polydactyly, short
• Are there other associated limb anomalies?
• Are there other structural anomalies? horizontal ribs, micromelia, hydrops
• Is there evidence of a skeletal dysplasia? • Ellis-van Creveld
o Postaxial polydactyly, cardiac anomalies,
• Is there growth restriction (IUGR)?
• Where is the extra digit (preaxial vs. short extremities, small thorax
postaxial)?
7 Clinical photograph shows a newborn infant, one of

monozygotic twins, born with preaxial polydactyly
Clinical photograph shows an unusual insertional
polydactyly in a stillbornfetus with trisomy 13. Note the
The infant was otherwise normal and had a normal extra hypoplastic appearing digit m. Polydactyly in
karyotype. trisomy 13;s more commonly postaxial.
40
POLYDACTYLY 5:
c
UI
n
c
0-
,..
UI
(Left) Coronal 3D ullrasound

..
CD
CD
!!!..
in this (etus of a poorly
controlled diabetic clearly
shows polydactyly 11IIII. There
was also a short tibia and
fibula with severe angulation
at the ankle. (Right) Clinical
confirms polydaClyly and
clubbing of both feet
Polydactyly is one of the
many anomalies seen in
diabetic embryopathy.
Smith-lemli-Opitz Syndrome
hand of a mid-trimester fetus
with Smith-Lemli-OpilZ
syndrome. The "jumbled"
appearance of multiple digilS
III is commonly seen in
polydactyly in the fetus. Six
digits can be seen and
correlated with the postnatal
appearance of the hand.
shows the hand of the same
infant at birth. Postaxial
polydactyly is seen 11IIII as
well as camptodactyly of
multiple digilS 11IIII.
(Leh) Ullrasound shows the

hands of a mid-trimester
fetus with Carpenter
syndrome. The hands appear
clenched E!llI. Preaxial
polydactyly can be
suspected on one of the
hands _ which appears
"too wide". (Right) Clinical
photograph shows the hand
of the same Carpenter
syndrome infant at birth with
preaxial polydactyly ffi
Extensive soft tissue
syndactyly was also apparent
and likely correlated with the
prenatal appearance of
persistently clenched hands.
7
41
SYNDACTYlY
DIFFERENTIAL DIAGNOSIS • Acrocephaly

o Carpenter Syndrome
Common
• Craniosynostosis
• Syndromic Syndactyly • Brachydactyly with clinodactyly,
o Apert Syndrome camptodactyly and syndactyly
o Carpenter Syndrome o Triploidy
o Triploidy
• Classic 3-4 syndactyly of the hands
o Pfeiffer Syndrome o Pfeiffer Syndrome
o Smith-Lemli-Opitz Syndrome • Craniosynostosis/cloverleaf skull
• Non-Syndromic Syndactyly • Complex partial syndactyly of hands,
o Amniotic Band Syndrome feet
o Familial o Smith-Lemli-Opitz Syndrome
Less Common • 2-3 toe syndactyly
• Diabetic Embryopathy • Non-Syndromic Syndactyly
Rare but Important
• Distal digits "stuck" together by bands
• Greig Cephalopolysyndactyly
• Actual band may be difficult to see
• Ectrodactyly • May cause amputations & "slash" defects
o Familial
ESSENTIAL INFORMATION • 2-3 toe syndactyly
Key Differential Diagnosis Issues Helpful Clues for Less Common Diagnoses
• Are there associated limb anomalies? • Diabetic Embryopathy
• Are there other structural anomalies? o Preaxial polydactyly & multiple anomalies
• Abnormal calvarium/craniosynostosis? Helpful Clues for Rare Diagnoses
• Evidence of amniotic bands? • Greig Cephalopolysyndactyly
• Is there growth restriction (IUGR)? o Postaxial polydactyly of hands with 3-4
• Must look carefully syndactyly
o Syndactyly is frequently missed by o Preaxial polydactyly of feet with 1-3
prenatal ultrasound syndactyly
Helpful Clues for Common Diagnoses • Ectrodactyly
• Syndromic Syndactyly o Split hand-split foot malformation
o Apert Syndrome o Subtle syndactyly present in otherwise
• "Mitten" syndactyly of hands and feet normal carriers
Carpenter Syndrome
7 Clinicalphotograph shows a stillborn fetus with Apert Ultrasound shows the broad foot of a mid-trimester
42
syndrome. The characteristic •millen' syndactyly
seen, as well as the acrocephaly
coronal synostosis.
is
which is due to =
fetus with Carpenter syndrome. Extensive syndactyly of
all the toes is noted.
SYNDACTYlY

hand of a mid·trimester fetus
with triploidy. Syndactyly of
digits] and 4 11II is noted.
Digit 5 is closely
approximated to 4 ••
suggestive of further
syndactyly. (Right) Clinical
photograph shows the hand
or a stillborn mid-trimester
fetus with triploidy. The
classic ]-4 syndactyly ~ is
seen. In addition, partial
syndactyly between digilS 4
and 5 can be seen.
Clinodactyly of digit 2 is also
apparent~
Pfeiffer Syndrome Pfeiffer Syndrome

shows extensive soft tissue
syndactyly between all the
toes ~ in a newborn with
Pfeiffer syndrome. Note also
the broad great toe ~
which is actually duplicated.
(Right) Radiograph shows
the foot of the same infant
with Pfeiffer syndrome. The
soft tissue syndactyly seen
clinically is difficult to
appreciate. Note the
duplicated metatarsal a
and proximal phalanx of the
great toe •.
Smith-lemli-Opitz Syndrome Smith-lemli-Opitz Syndrome

foot of a fetus with
Smith-Lemli-Opitz syndrome.
Syndactyly of the toes is
difficult to diagnose on
ultrasound, but the
"crowded" appearance of
the toes 11II correlated with
syndactyly at birth. (Right)
the feet of a young adult
with Smith-Lemli-Opitz
syndrome. Characteristic 2-]
toe syndactyly 11II can be
seen.
7
43
Membranes in Multiple Gestations 8-2
Discordant Twin Growth 8-6
Asymmetric Fluid Distribution 8-10
Twin Related Anomalies 8-14
Conjoined Twins 8-20
1Il
C MEMBRANES IN MULTIPLE GESTATIONS
o
-
;;
III
1Il
GI
Cl
DIFFERENTIAL DIAGNOSIS • In second and third trimester use high
frequency transducer to count layers if
GI Common chorionicity otherwise unclear
Q.
E • Dichorionic Diamniotic Twins o "Twin peak" or "lambda" sign
:l
~ • Monochorionic Diamniotic Twins • Echogenic chorionic tissue extends
• Monochorionic Monoamniotic Twins between layers of amnion
Less Common • Triangle shape with base on placental
• Bleed Between Membranes surface
• Synechiae • Apex of triangle fades into inter-twin
• Chorioamniotic Separation membrane
• Amniotic Band Syndrome o Two placentas
• Can be difficult to determine if placentas
Rare but Important
implanted side by side or fused
• Uterine Duplication o Different genders = dizygotic = dichorionic
by definition
ESSENTIAL INFORMATION • Monochorionic Diamniotic Twins
o First trimester: One thick echogenic outer
ring containing two thin rings of amnion
• Twin types • Count yolk sacs if amnion not yet visible
o 70% dizygotic: Two separate fertilized ova
• Number of yolk sacs = number of
o 30% monozygotic: Single zygote splits at
amnions
various times post conception o Thin membrane
• Zygote splits at < 3 days post conception • 2 layers of amnion + no chorion = thin
- dichorionic twins (30%) membrane
• Split occurs 4-8 days post conception - o "T" sign
monochorionic diamniotic twins • Thin membrane abuts placental surface
(60-65%) at 90° without echogenic triangle of
• Split occurs 8-12 days post conception - chorionic tissue
monoamniotic twins (5-10%) o Single placenta
• Split occurs> 13 days post conception - • Beware pitfall of fused placentas in
conjoined twins « 1%) dichorionic twins
• Dichorionic twins have best prognosis with • Do not confuse succenturiate lobe with
high likelihood of two liveborn infants second complete placenta
• Important to recognize monochorionic o Monochorionic twins must be same
twins due to specific complications gender
o Twin twin transfusion syndrome (TITS)
• Monochorionic Monoamniotic Twins
o Twin reversed arterial perfusion (TRAP)
o First trimester: One thick echogenic ring
sequence containing two embryos inside a single
• Important to recognize monoamniotic twins amniotic sac with single yolk sac
as high risk of cord accidents, as well as o No inter-twin membrane
other complications of monochorionic • Beware pitfall of TITS with
twinning anhydramnios of one twin
Helpful Clues for Common Diagnoses • "Stuck" twin stays adherent to uterine
• Dichorionic Diamniotic Twins wall
o First trimester: Two complete thick • Membrane difficult to see: Look carefully
echogenic chorionic rings between extremities or where head is
o Thick membrane adjacent to uterine wall
• 2 layers chorion + 2 layers amnion = 4 o Monoamniotic twins free to move around
layers = thick membrane each other
• Cord entanglement only occurs in
absence of membrane
8
2
MEMBRANES IN MULTIPLE GESTATIONS ~
c
;::;:
-6"
o Single placenta o Chorioamniotic separation in singleton CD
• Cord insertion sites often closely pregnancy Cl
approximated
• One fetus with "membrane" tending to
parallel margins of cavity rather than
divide it
--
CD
III
III
o:;,'
III
• Bleed Between Membranes
o Apparent thick membrane but
• Do not confuse with failed twin
echogenicity < chorion gestation
o Echogenicity and thickness changes quite
o Very variable presentation: Constriction
rapidly as clot breaks down
bands on extremities to major
• Synechiae
o Ask patient about prior surgeries
amputation/destructive defects
o Look for fine filaments in amniotic fluid
o In first trimester, can cause distorted sac
o Fetus often "tethered" by bands; may need
shape
to vary maternal position to float fetus
o Synechiae cross uterine cavity, may look
away from uterine wall
like thick membrane
• In singleton pregnancy, look for fetus Helpful Clues for Rare Diagnoses
straddling synechia or placenta on one • Uterine Duplication
side/fetus on the other o In first trimester, use 3D to create coronal
• In twin pregnancy look at relationship to image for fundal contour
placenta: Membranes reflect off placenta, o Beware pregnancy in rudimentary horn -
synechia I attachment to myometrium risk rupture with catastrophic hemorrhage
can be anywhere Other Essential Information
• Chorioamniotic Separation • Twins account for 1.1 % of births in USAbut
o Visualization of chorion and amnion as
10% of perinatal morbidity and mortality
separate layers after 14-16 weeks • Prognosis in multiple gestation relates to
o May be associated with aneuploidy when
chorionicity
seen early in second trimester • Best imaging tool for membrane
o More usually complication of intervention
assessment/determination of chorionicity is
• Amniocentesis first trimester transvaginal ultrasound
• Amnioreduction in TITS or for • "Twin peak" sign is reliable indicator of
polyhydramnios in one twin dichorionicity but is not absolute
• Hysteroscopic laser ablation of abnormal • "T" sign most often seen in monochorionic
vascular connections in TITS or TRAP twins but does not exclude dichorionicity
Dichorionic Diamniotic Twins Dichorionic Diamniotic Twins
Transvaginal ultrasound shows two thick, echogenic

rings =:I typical of dichorionic twinning. By the second
Ullrasound shows a thick membrane
peak" ~
= and "twin
sign. However in this case, the different
8
trimester the membrane looked thin, but chorionicity genders indicate that the twins are dizygotic and
had been firmly established in the first trimester. therefore dichorionic by definition.
3
MEMBRANES IN MULTIPLE GESTATIONS
Monochorionic Oiamniotic Twins Monochorionic Oiamniotic Twins

ullrasound shows two yolk
sacs !lEI within a single
chorionic sac 11II. The
amnion is not yet visible but
two yolk sacs correlates
strongly with diamnionicity.
Monochorionic diamnioUc
twinning was confirmed at
follow-up. (Right) TZWI MR
following successful shunt
obliteration for twin-twin
transfusion syndrome shows
two fetuses, a single
placental mass at and a
thin inter·twin membrane ~
with symmetric amniotic
fluid distribution.
Monochorionic Monoamniotic Twins Monochorionic Monoamniotic Twins

(Leh) TZWI MR shows two
fetuses 11II with a single
placenta ElII and no
inter·twin membrane. Note
fetal proximity despite
polyhydramnios. Real time
observation excluded
conjoined twins. (Right)
Gross pathology shows a
cord knot in a pair of
monoamniotic twins with
demise of one twin at 27
weeks. The dark cord ElII
was thrombosed and
belonged to the dead twin.
The living twin was
premature but did well.
Synechiae Synechiae
(Leh) Axial uluasound shows
an apparent inter-twin
membrane 11II and twin peak
sign ~ In fact this is a
singleton in a patient with
synechiae. Fetal par15 ElII are
seen on both sides of the
synechia. The fetus was
freely mobile, distinguishing
this from amniotic bands.
(Right) Axial ultrasound early
in the second trimester
shows the edge of the
placenta 11II apparently lifted
off the uterine wall. This
appearance ;s secondary to
placental implantation upon
a uterine synechia III
8
4
MEMBRANES IN MULTIPLE GESTATIONS ~
c:
::;
'6'
j;'
C)
Chorioamniotic Separation Chorioamniotic Separation

ultrasound shows the thin
--
CD
UI
III
0'
:I
UI
amnion 11:I separated from
the chorion and draped over
the fetal extremities 81. This
patient had been treated
with serial amnioreduction.
(Right) Sagittal ultrasound at
16 weeks shows delayed
fusion of the amnion
the chorion. Note how the
=
with
membrane parallels the

uterine wall 81. Multiple
associated anomalies were
due to trisomy 18.

a band trapping fetal fingers
~ In this case, a band
constricted the cord causing
Fetal demise. Inter-twin
membranes do not attach to
the fetus. Even with a
"stuck" twin the membranes
are closely applied to, but
not adherent to, the fetus.
ultrasound shows a band
within the amniotic fluid =.
Bands extend from the
uterine wall to the fetal
surface often "anchoring"
the fetus in a fixed position.
Uterine Duplication Uterine Duplication

(Left) Ultrasound shows an
apparent very thick
inter-twin "membrane" Ia.
In fact, this is a uterine
septum. It is essential to
follow all linear echoes in the
amniotic fluid to differentiate
membranes from synechia
from septa. (Right) Axial
shows a dichorionic twin
pregnancy 81. The
separating "membrane" 1m
is much thicker and more
hypoechoic than expected
and is actually myometrium.
This is a twin pregnancy in a
bicornuate uterus.
8
5
III
C DISCORDANT TWIN GROWTH
o
-
;:
III
III
Gl
Cl ---
DIFFERENTIAL DIAGNOSIS • Preterm delivery confers risks of
prematurity to both but may be a better
Gl Common option than continuing the pregnancy
ii
E • Idiopathic and Normal with risk of demise of one twin
~ • Intrauterine Growth Restriction of One Twin
::E o In dichorionic twins with one at-risk fetus,
• Twin-Twin Transfusion Syndrome goal is to maximize outcome for healthy
• Unequal Placental Sharing fetus
less Common Helpful Clues for Common Diagnoses
• Anomaly of One Twin • Idiopathic and Normal
Rare but Important o Appropriate interval growth even if at low
• Twin Reversed Arterial Perfusion end of normal range
o Normal amniotic fluid volume, normal
Doppler studies, no anomalies
,--_ESSENTIAL INFORMATION • Intrauterine Growth Restriction of One
Key Differential Diagnosis Issues Twin
• Must differentiate small but normal twin o Less than expected interval growth
from abnormally grown twin o Associated with unequal placental sharing
o By convention term "discordance" is used • Look for velamentous or marginal cord
when one twin meets criteria for insertion
intrauterine growth restriction (IUGR) o Look at placental location
• Estimated fetal weight (EFW) < 10th • Implantation on septum or over large
percentile fibroids
o Size difference in twins not clinically o Look for evidence of abruption
significant if both show appropriate o Early onset concerning for anomaly,
interval growth and normal fluid syndrome or aneuploidy
• Determination of chorionicity essential for • Consider amniocentesis
management o Late onset more suggestive of placental
o Disparate size not uncommon in insufficiency
dichorionic gestation • Use Doppler to evaluate fetoplacental
• Exclude anomaly/aneuploidy circulation
• Check placental cord insertion sites • Twin-Twin Transfusion Syndrome
• Track growth/deepest fluid pockets at 3-4 o Monochorionic twins with artery-to-vein
week intervals anastomoses in the placenta
• Doppler studies if either twin meets o Asymmetric size with true discordance in
criteria for IUGR many cases
o Certain conditions only occur in o Recipient: Larger twin with
monochorionic (MC) gestations polyhydramnios
• Twin-twin transfusion syndrome (TTTS) o Donor: Smaller twin with oligohydramnios
• Twin reversed arterial perfusion sequence o Staging of TTTS
(TRAP) • Stage 1: Donor bladder visible, Doppler
• Unequal placental sharing normal
o In MC twins, demise of one twin has • Stage 2: Donor bladder empty, Doppler
profound consequences for the survivor normal
• Demise of one MC twin may - "twin • Stage 3: Donor bladder empty, Doppler
embolization syndrome" (better thought abnormal
of in terms of exsanguination or • Stage 4: Hydrops in recipient
hypotension rather than embolization) • Stage 5: Demise of one or both twins
• Results in ischemic brain/cardiac injury • Unequal Placental Sharing
in survivor o Velamentous cord insertion
• Cord inserts onto membranes away from
placental margin
8
6
DISCORDANT TWIN GROWTH
• Strong association with TITS; monitor o Pathognomonic feature of TRAP sequence

carefully for fluid volume/growth is umbilical artery flow away from placenta
• Look for associated vasa previa; if present toward abnormal fetus
mandates delivery by cesarean section o Unlike most other anomalous twins, TRAP
before onset of labor fetus is often very large due to edema
o Marginal cord insertion Other Essential Information
• Cord inserts at edge of placenta rather • Risk of aneuploidy in one twin is greater
than onto placental disc than a priori risk for singleton
o Eccentric cord insertion on placenta
• Birth defects rate in twins higher than for
• One twin has less than half of placenta singletons
Helpful Clues for Less Common Diagnoses • Birth defects rate in twins conceived with
• Anomaly of One Twin assisted reproduction higher than for those
o Anomalies more common in multiples conceived naturally
than in singletons • MC diamniotic twins with unequal placental
• Severe structural malformations seen in sharing have 9.8x likelihood of birth weight
2.6% of monochorionic twins in one discordance compared to twins with equal
series placental sharing
o Careful anatomic survey mandatory • Fetal intervention possible in some
o Multiple anomalies increase suspicion for circumstances
aneuploidy or syndrome o TITS: Laser of anomalous vascular
o Amniocentesis may be offered connections now preferred over serial
o Fetal reduction may be offered amnioreduction
o TRAP: Radiofrequency ablation of TRAP
• Twin Reversed Arterial Perfusion twin cord obliterates shunt - protects
o TRAP twin often looks very abnormal
pump twin from hydrops
• Absent cranial structures/upper Alternative Differential Approaches
extremities strongly suggests this • Small twin with no anomaly, normal fluid
diagnosis o Idiopathic and normal
• Heart maybe "absent" or rudimentary • Small twin with oligohydramnios/small
• Extensive subcutaneous edema often bladder
with cystic spaces o Renal anomaly
o IUGR
o TITS (only seen in monochorionic twins)
Idiopathic and Normal Idiopathic and Normal
Clinical photograph shows twins who were delivered at

]5 weeks when the smaller fetus' estimated fetal weight
Photograph of the same twins at age] shows continued
size discrepancy but otherwise rambunctious, good
8
dipped below the 10th percentile. health in both boys.
7
!II
c: DISCORDANT TWIN GROWTH
o
;:
••III
!II
GI
C) Intrauterine Growth Restriction of One Intrauterine Growth Restriction of One
Gl
Q. Twin Twin
B (Leh) Table shows a typical
:l example of severe
:IE asymmetric IUCR of one
fetus in dichorionic twins. Fetus A MA = 24wOd:!:1Od
Twin B is markedly small
with the abdominal
...••Fetus B~ MA = 18wOd :!:8d
circumference and femur
length lagging behind the BPD 19w5d:!:12d 4.55cm
head measurements. (Right)
Axial ultrasound of the head HC 19w4d:!:10d 16.97cm
of twin B shows mild
ventriculomegaly (calipers) AC 15wOd:!:12d 8.67cm
and exaggerated frontal bone
concavity =. Hypertelorism
was shown on other images.
FL 17w6d:!:10d 2.59cm
Intrauterine Growth Restriction of One Intrauterine Growth Restriction of One

Twin Twin
(Left) Coronal ultrasound in
image, shows that the torso
=:I of twin B appears very
small compared to the head
Ea. Surrounding fluid
volume is low. (Right)
Sagittal ultrasound of twin A
shows a normal head Ea to
abdomen =:Iratio and
normal surrounding fluid
volume. Amniocentesis
revealed normal
chromosomes for twin A and
triploidy for twin B.
Twin-Twin Transfusion Syndrome Twin-Twin Transfusion Syndrome

(Leh) Chart shows unusually
marked discordance Fetus A MA = 24wld!13d
between the twins in this Fetus B MA = 19w3d!10d
case of twin-twin transfusion
syndrome. (Right)
Ultrasound shows the
"stuck" smaller donor twin
-+Fetus A4- -+Fetus 84-
with no urine in the bladder
Ea and the membrane =:I
MA ±SD MA ±SD
tightly draped around the BPD 25wOd±15d BPD 21wld±12d
extremities. Cord Doppler HC 23w6d±10d HC 20wld±10d
showed absent end-diastolic
flow. This is stage 3 TITS. AC 24wld±15d AC 19w5d±14d
FL 24w5d±15d FL 18wOd±13d
8
8
DISCORDANT TWIN GROWTH
Unequal Placental Sharing

(Leh) Growth data from a
twin gestation shows fetus A
with an EFW < 10th
percentile. No structural
anomalies were seen and
there was no evidence of
twin-twin transfusion
syndrome. (Right) Color
marginal cord insertion with
the cord for twin A 11:I
inserting at the edge of the
placental disc IllIl Twin 8's
cord was centrally placed.
Discordant growth was from
unequal sharing of the
placenta, not artery-ta-vein
anastomoses as in TTTS.
Unequal Placental Sharing

fLeh) Transabdominal
ultrasound in the same case,
shows reduction of fluid
volume around twin A 11:I
compared to that around the
normally grown twin 8 Ill.
through the torso of a
monoamniolic twin shows a
large omphalocele and a
meningocele _ on either
side of the lower extremities
EiilI. Other images showed a
large neural tube defect and
ventriculomegaly. The
bladder was never identified.
Thus, this fetus has OEIS
complex.
Anomaly of One Twin Twin Reversed Arterial Perfusion

(Left) T2WI MR in the same
case as previous image,
shows the normal twin's
cranium ~ and the
abnormal twin's torso ~
There was polyhydramnios
as well as IUGR of the
abnormal twin.
Chromosomes were normal.
fRight) Axial ultrasound
shows large cystic areas 11:I
within the edematous skin of
the TRAP twin, which
became so large that it
compressed the norma/twin
• against the uterine wall.
8
9
III
c: ASYMMETRIC FLUID DISTRIBUTION
o
;l
III
•• o Look for signs of growth restriction
III
Ql DIFFERENTIAL DIAGNOSIS
Cl • Decreased abdominal circumference ,
Ql Common estimated fetal weight < 10th percentile,
Q.
;l • Twin-Twin Transfusion Syndrome oligohydramnios
'3
~ • Discordant Twin Growth o Differentiate from normal but asymmetric
• Unequal Placental Sharing twins
• Oligohydramnios of One Twin • Serial evaluation shows appropriate
• Polyhydramnios of One Twin interval growth with normal fluid
Less Common volume around both
• Premature Rupture of Membranes • Unequal Placental Sharing
• Myomatous Uterus o Best time to look at placental cord
insertion site is late first trimester
o Look for eccentric cord placement
ESSENTIAL INFORMATION • Twin with smaller area of placenta at risk
Key Differential Diagnosis Issues for growth restriction/oligohydramnios
• Asymmetric fluid distribution may be caused o Velamentous cord: Cord inserts onto
by primary abnormality in one twin or membranes away from placental disc
complication of placental sharing o Marginal cord: Cord inserts at edge of
• Determination of chorionicity vital to placental disc
management • Oligohydramnios of One Twin
o Anomaly in one dichorionic twin o Demise
• Management focused on maximizing o Bilateral renal anomaly

outcome for normal fetus • Renal agenesis: Absent kidneys, absent
• Early intervention for anomalous twin renal arteries, "lying down" adrenals
confers additional risks of prematurity • Multicystic dysplastic kidneys: Variable
on normal twin sized cysts, no normal renal parenchyma
o Monochorionic twins • Severe UP] obstruction: Dilated
• Demise of one twin has potentially pelves/calyces without hydroureter
disastrous consequences for survivor • Obstructive cystic dysplasia: Multiple
• Intervention may be appropriate despite cysts within echogenic parenchyma ±
risks of prematurity residual hydroureter
o Twin-twin transfusion syndrome (TTTS) o Posterior urethral valves
has high mortality for both twins if • Dilated bladder
untreated • "Keyhole" appearance due to dilated
o Twin reversed arterial perfusion (TRAP) posterior urethra
sequence • Bilateral hydronephrosis
• Management is focused on maximizing • Look for urinoma/urinary ascites
outcome for pump twin o Intrauterine growth restriction (IUGR)
• Estimated fetal weight < 10th percentile
Helpful Clues for Common Diagnoses • Decreased abdominal circumference
• Twin-Twin Transfusion Syndrome • Use spectral Doppler to assess
o Monochorionic placentation
uteroplacental circulation/fetal response
o Fetuses often discordant in size: Donor to adverse environment
small/recipient large • Polyhydramnios of One Twin
o Donor twin: Oligemic -+ ~ urine o Idiopathic
production -+ "absent" bladder + o Gastrointestinal obstruction
oligohydramnios • Look for dilated loops of bowel or
o Recipient twin: Plethoric, polyhydramnios, "double bubble" sign
at risk for hydrops • May not become apparent until 3rd
• Discordant Twin Growth trimester
o Smaller twin may be structurally abnormal o eNS impairment -+ inability to swallow
± aneuploid
8
10
ASYMMETRIC flUID DISTRIBUTION
o Obstructed swallowing: Goiter, oral mass, • Small abdominal circumference

neck mass • Abnormal Doppler studies
• Scan head and neck in axial plane o Fibroids increase risk for abruption
• Look for splaying of carotid arteries with • Chronic abruption associated with
goiter growth restriction/oligohydramnios
o High output state • Use color Doppler to look for avascular
• Arteriovenous malformation: Use color clot deep to vascular placenta
Doppler to assess any apparent "cystic" Other Essential Information
structure • Assessment of fluid volume
• Tumor: Most fetal tumors are o In singletons, amniotic fluid index (AFI) is
large/rapidly growing, use color Doppler used
to assess internal vascularity • Sum of four quadrants, deepest vertical
• Chorioangioma: Hypervascular placental pocket free of cord and fetal parts
mass o In multiple gestations use maximum
o Musculoskeletal anomaly vertical pocket around each fetus
• Skeletal dysplasia: Assess bone o Show relative fluid distribution on either
mineralization, measure all long bones side of membrane
• Arthrogryposis/akinesia sequence: • TITS may occur in monoamniotic twins
Evaluate movement/swallowing in real o Lack of membrane precludes presentation
time with oligohydramnios/polyhydramnios
Helpful Clues for less Common Diagnoses o Look for absent bladder in smaller twin
• Premature Rupture of Membranes o Doppler may be abnormal depending on
o Premature membrane rupture of one sac severity
results in oligohydramnios around that • Renal agenesis in one of monoamniotic
twin twins is easily missed
o Appropriate clinical history o Normal twin produces urine, no inter-twin
o Positive speculum examination with membrane therefore fluid may look
ferning normal
• Myomatous Uterus o Check bladder carefully: Urine production
o Unable to support pregnancy due to poor - changing bladder volume over course of
placentation scan
o Look for signs of placental insufficiency
• Less than expected growth
Transabdominal ultrasound shows the "anli*gravily"

appearance of a stuck twin. The membrane • is
Ultrasound shows the other twin
mobile within
= who was freely
large volumes of fluid. It is vital to
8
closely applied to the stuck fetus. All of the visible fluid demonstrate an inter-h¥in membrane in cases like this,
relates to the other twin. which can be mistaken for monoamniolic twinning.
11
ASYMMETRIC FLUID DISTRIBUTION

ultrasound at presentation
(1 B weeks) shows
measurement of the
maximum vertical pocket
(calipers) around the
recipient twin. At 73 em this
indicates severe
Color Doppler ultrasound in
the same case as the
previous image shows
absence of urine in the
bladder of the donor twin
who has oligohydramnios.
Normally the bladder is
visible in the pelvis between
the umbilical arteries III.
Discordant Twin Growth Discordant Twin Growth

(Left) Table shows biometric
data for one of a dichorionic
pair. Fetus A was concordant
with dates in this assisted
reproduction pregnancy.
Fetus B was smaller with a
lagging abdominal
circumference. (Right)
in the same case shows two
placentas and a thick
membrane EEl indicating
dichorionicity. The fluid
volume IllIl around the
smaller twin was diminished.
Follow-up at one monlh
showed demise of lhis twin.
Discordant Twin Growth Discordant Twin Growth

ultrasound shows
oligohydramnios with
membranes" closely
draped over the fetus_ Other
images showed normal
kidneys and bladder. (Right)
image, shows absent end
diastolic flow III and
pulsalile umbilical venous
flow EllI. These were
dkhononktwmsat24
weeks gestation.
8
12
ASYMMETRIC FLUID DISTRIBUTION
Discordant Twin Growth Unequal Placental Sharing

ultrasound from the same
case, shows a marginal cord
insertion. for the twin with
oligohydramnios and 3 week
growth lag. (Right) Color
Doppler ultrasound in a
different case, shows one
cord III inserting on the
membranes rather than onlO
the placental disc proper E!II
(i.e., velamentous insertion).
This twin was smaller with
low fluid throughout the
pregnancy. By convention,
twins are not considered
discordant unless one has
IUGR.
Oligohydramnios of One Twin Polyhydramnios of One Twin

(Left) Ultrasound of IVF
twins at 16 weeks shows
very liule fluid IJIII around
one twin which was a/so
small. Although not visible
on this image, fluid was
normal around the co-twin
•. At 3 week follow-up, the
twin with oligohydramnios
had died. (RighI) T2WI MR
shows polyhydramnios ~
around one twin. Note thin
membrane~
Encephalomalacia from
co-twin demise caused
impaired swallowing.
Polyhydramnios of One Twin Myomatous Uterus

(Left) Image of membranes
from the same case as prior
image, confirms
polyhydramnios IJIII. Despite
the suggestion of a twin peak
sign" these were
monochorionic twins with
vascular connections.
Encephalomalacia in the
survivor compromised
swallowing. (Right) Axial
shows low fluid volume
around a twin attributed to
poor placentation in this
myomatous uterus. Note
=
multiple large transmural
myomata
8
13
TWIN RELATED ANOMALIES
DIFFERENTIAL DIAGNOSIS • Look for "stuck" twin with

shrink-wrapped membrane in severe
Common cases
• Fetal Demise o TTTS staging
• Twin-Twin Transfusion Syndrome • Stage 1: Donor bladder visible, normal
• Conjoined Twins Doppler
• Twin Reversed Arterial Perfusion • Stage 2: Donor bladder empty, normal
Rare but Important Doppler
• Fetus-in-Fetu • Stage 3: Donor bladder empty, abnormal
Doppler
• Stage 4: Hydrops in recipient
ESSENTIAL INFORMATION • Stage 5: Demise of one or both
Key Differential Diagnosis Issues • Conjoined Twins
• Most important step in evaluation of o Monoamniotic gestation", no inter-twin
multiple gestation is determination of membrane
chorionicity o Must have contiguous skin covering
o Certain problems only occur in between fetuses
monochorionic gestation o Nomenclature
• Twin-twin transfusion syndrome (TTTS) • Site of attachment & "pagus" (e.g.,
• Twin reversed arterial perfusion (TRAP) cephalopagus)
• Conjoined twins • "Di" & site of duplication (e.g.,
• Assess fluid distribution dicephalus)
o Show fluid on either side of inter-twin • Twin Reversed Arterial Perfusion
membrane o Monochorionic gestation with one normal
o Measure maximum vertical pocket for each "pump" twin and one anomalous twin
twin o Anomalous twin
o If fluid is asymmetric, determine which • Absent cardiac activity or rudimentary
side is abnormal heart
• Decreased in one twin: Oligohydramnios • Often well-developed torso/lower
differential extremities
• Increased in one twin: Polyhydramnios • Upper extremities/cranium poorly
differential developed or absent
• Increased in one twin & decreased in the • Marked skin edema ± effusions/ascites
other: TTTS most likely diagnosis o Hallmark of this condition is umbilical
artery flow toward the abnormal fetus
Helpful Clues for Common Diagnoses rather than toward the placenta
• Fetal Demise
o Not uncommon in early pregnancy Helpful Clues for Rare Diagnoses
o Cardiac activity should always be seen in • Fetus-in-Fetu
an embryo> 5 mm in crown rump length o Apparent singleton: "Twin" is incorporated
o If early, sac may completely resorb - into the "singleton" as a mass
"disappearing twin" o Always think about this with an unusual
o If later in monochorionic gestation, TRAP fetal mass
sequence may develop o If vertebral column present ~ fetus-in-fetu
o Cord entanglement is a specific cause of more likely than teratoma
demise in monoamniotic twins Other Essential Information
• Twin-Twin Transfusion Syndrome • Anomaly rate higher in twin than singleton
o Monochorionic gestation pregnancies
o Asymmetric or discordant growth • Any anomaly/aneuploidy can occur
o Abnormal fluid distribution: One twin regardless of chorionicity
with oligohydramnios, one with • Specific entities arise from vascular
polyhydramnios connections in monochorionic placentas
8
14
TWIN RELATED ANOMALIES ~
c
;;
-a'
o TITS arises secondary to artery to vein o Both twins in TITS at risk for hydrops iD
C)
shunt within monochorionic placenta
• Donor twin shunts arterial blood into
(greater in recipient due to volume
overload) ....
CD
UI
DI
recipient twin's venous circulation -+ o May have hydrops from other causes 0"
::I
donor oligemia -+ effective "hypotension" unrelated to placental sharing UI
• ~ Renal perfusion -+ ~ urine output -+ • All cases need careful anatomic survey,
oligohydramnios infection work up ± chromosome
• ~ Blood to placenta -+ ~ return of evaluation
oxygenated blood -+ chronic hypoxia -+ • Perform formal fetal echocardiography
poor growth for structure, function, rate and rhythm
• Recipient twin receives all its own return • Twin with encephalomalacia
from placenta & portion of co-twins -+ o Any destructive process may end in
plethora/fluid overload encephalomalacia regardless of
• t Volume status -+ t cardiac output -+ chorionicity
eventual development of hydrops o May occur secondary to chronic hypoxia
o TRAP sequence arises secondary to artery in donor twin in TITS
to artery shunt within monochorionic o Monochorionic twin demise places
placenta surviving twin at risk for ischemic injury
• Pump twin deoxygenated blood -+ described as "twin embolization syndrome"
co-twin umbilical arteries -+ preferential • Shared placental circulation -+ vascular
perfusion of lower extremities lack of -+ communications between fetuses
upper body/cranial development • Death of one twin -+ sudden drop in
• Blood enters fetus via VA not UV -+ lack peripheral resistance for survivor -+
of normal circulation through heart -+ effectively severe hypotensive episode
abnormal cardiac development • Ischemic injury seen in
Alternative Differential Approaches brain/ m yocardi urn/kidneys
o Sonographic findings
• Twin with hydrops
• t Echogenicity in periventricular white
o Anomalous twin in TRAP sequence:
matter, loss of grey-white matter
Massive skin edema/effusions common
differentiation
o Pump twin in TRAP sequence at risk for
• Eventual cystic encephalomalacia,
hydrops from cardiac compromise
porencephaly, microcephaly
Fetal Demise Fetal Demise
= and a 8
with poor decidual reaction =
Sagitta/transabdominal ultrasound shows two sacs, one
which contained a
dead embryo. At follow-up the other embryo died.
Ultrasound shows an inter-twin membrane
twin peak sign ~ Fluid volume in the smaller sac is
low due to /Win demise. The dead twin and sac shrank
Etiology for pregnancy failure unknown. over serial follow-up scans.
15
III
C TWIN RELATED ANOMALIES
o
;;
••l'lIIII
GI
C)
QI
ii Fetal Demise Fetal Demise
;; (Left) Axial transabdominal
'3 ullrasound shows a normal
~ appearance of this twin's
brain at presentation. (Right)
ultrasound 10 days following
co-twin demise shows
developing ventriculomegaly
=:I and loss of grey-white
maller differentiation =:I
concerning for
encephalomalacia.
Monochorionic twin demise
places the surviving twin at
risk (or ischemic injury
(I'twin embolization
syndrome").

ultrasound allhe same visit
shows ventriculomegalyand
intraventricularclot" The
infant died within hours of
delivery and autopsy
confirmed encephalomalacia
allributed to the
hemodynamic effects of
co-twin demise. (Right)
Coronal T2WI MR in a
different case shows diffuse
abnormal signal of the cortex
EB ventriculomegaly
and intraventricular clot
consistent with ischemic
encephalomalacia from
co-twin demise.

ultrasound shows diffuse skin
thickening" over the scalp.
(Right) Coronal
the same fetus as previous
image, shows ascites =
pleural effusion IIiIl and more
skin thickening E!lI indicating
hydrops. This was the
recipient twin in a
monochorionic pair affected
by twin·twin transfusion
syndrome.
8
16
c
i:E
'tI
iii
G)

.•.•
CD
III
II
(Leh) Clinical photograph 0"
shows plethora, abdominal :l
III
distension and diffuse edema
secondary to hydrops in the
recipient twin of a
monochorionic pair with
twin·twin transfusion
syndrome. (Right)
Radiograph as part of an
autopsy shows skin
thickening" and
abdominal distension 11II
secondary to ascites in the
hydropic twin.

ultrasound of a recipient
and polyhydramnios
reflecting volume overload.
=
twin, shows a full bladder 81
ultrasound shows
oligohydramnios around a
donor twin with the
inter-twin membrane =
closely applied to the fetus.

ultrasound shows absent end
diastolic flow in a donor twin
umbilical artery indicating
stage J twin·twin transfusion
syndrome. (Right) Coronal
a different case shows ascites
11II and pleural effusion 11II
indicating hydrops in this
recipient twin (i.e., stage 4
syndrome).
8
17
TWIN RELATED ANOMALIES

fetuses =
shows thoracoomphalopagus
facing each other.
The heart IllIl is shared. Note
that the contiguous skin
covering BI extends to the
level of the abdomen.
confirms
joined at the chest and
=
abdomen. An omphalocele
is often a component of
omphalopagus conjoined
twinning.

(Leh) Transabdominal
ultrasound shows an
amorphous mass (calipers)
with calcific elements =.
ultrasound in an orthogonal
plane in the same case again
shows the amorphous mass
limbs =
(calipers) adjacent to the
co-twin.
of the normal

ultrasound shows umbilical
arterial flow IllIl extending
into this mass, away from the
placenta BI. Pulsed Doppler
shows reversed arterial
perfusion 11:I confirming the
diagnosis of TRAP sequence.
shows the typical
appearance of a TRAP fetus
with marked soft tissue
edema and no normal
cranial/facial structures.
8
18
c:
~
"tJ
ii'
Q
Fetus-in-Fetu Felus-in-Felu
(Left) Coronal
--
CD
III
III
0'
~
III
shows an unusual
intra·abdominal mass" in a
female fews. The mass grew
quite rapidly on serial
evaluation. (Right) Axial
oblique transabdominal
ultrasound in the third
trimester shows an apparent
long bone" within the
abdominal mass.
Fetus-in-Fetu Fetus-in-Felu
(Left) Ultrasound of the
abdomen after delivery
shows the large, complex
mass (calipers) with cystic
components !lIIl and bony
elements =:I. (Right)
Ultrasound confirms the
presence of a long bone =:I
that was seen on the
prenatal swdy.
Fetus-in-Fetu Felus-in-Felu
(Left) Ultrasound through
another section of the mass
shows part of a vertebral
column lID confirming the
diagnosis of fetus·jn·(etu
rather than teratoma. (Right)
Gross pathology of the
resected specimen shows the
feet =:I of the fews-in-few.
8
19
III
C
CONJOINED TWINS
o
••
-
III
III
GI
Cl
• Thoracopagus
GI Common
'ii. o Fetuses face each other
~ • Thoracopagus
~ o Fused from thoraces to umbilicus
~ • Omphalopagus
o Always some degree of cardiac fusion
Less Common • Precludes separation in 75%
• Pygopagus o Common pericardial sac in 90%
• Ischiopagus o Livers invariably fused
• Cephalopagus • 25% share biliary system
• Craniopagus o 25% have common small intestine, usually
Rare but Important duodenum
• Dicephalus • Omphalopagus
• Fetus-in-Fetu o Fetuses face each other
• Parasitic Twin o Fusion of ventral abdominal cavities from

umbilicus ± lower thorax
o 80% liver fusion, biliary anomalies
ESSENTIAL INFORMATION common
Key Differential Diagnosis Issues o 30% have shared small intestine at distal
• Monochorionic ileum at level of Meckel's diverticulum
o Single placenta Helpful Clues for Less Common Diagnoses
o Twins same gender • Pygopagus
• Monoamniotic o Fetuses face away from each other
o No inter-twin membrane o Joined at sacrum/buttocks
• Fetuses fused at some location o 15% share urinary system with single
o Contiguous skin covering at site of fusion bladder
is hallmark of this diagnosis o One anus ± rectum, rest of bowel separate
o Conjoined twins with narrow or pliable o May have spinal cord fusion
area of fusion may vary in orientation to • Ischiopagus
each other o Joined from umbilicus to single pelvis
• May see fused umbilical cord o Fetuses face-to-face or end-to-end
o More than three cord vessels o Variable number kidneys/bladder
• Important to differentiate conjoined from o Cloacal malformation/anal
monoamniotic twins given different atresia/vesicocolic fistulas occur
prognosis o Internal and external genitalia may be
o Monoamniotic twins are within the same shared
sac but not fused o Variable number of extremities
o May have relatively fixed orientation if • Tetrapus = 4
cord entanglement • Tripus = 3
o Prognosis better for monoamniotic • Bipus = 2
• No need for separation o Major challenges to separation are
• Majority of conjoined twins die in utero genitourinary and orthopedic
or shortly after delivery o Genitourinary
• Formal fetal echo cardiography mandatory in • Continence, adequate bladder/bowel
all conjoined twins emptying/sexual function
o Complex congenital heart disease may o Orthopedic
preclude separation attempt • Number of lower limbs
o Fetal echocardiography easier than • Pelvic reconstruction for prosthetic limb
postnatal echo attachment
• Multiple acoustic windows through • Cephalopagus
amniotic fluid o Joined from vertex to umbilicus with faces
• No interference from aerated lung on opposite sides of common head
8
20
CONJOINED TWINS
o Inseparable o "Di" + site of duplication (e.g., dicephalus =

• Craniopagus twins with two heads on a single torso)
o Joined at skull anywhere except face or • Suffix may be used to describe number of
foramen magnum extremities
o Separability depends on degree of shared • Ischiopagus tripus = twins joined at
dural sinuses lower body with single pelvis and three
o Shared neural tissue precludes separation lower extremities
Helpful Clues for Rare Diagnoses • Overall prognosis for conjoined twins is
poor
• Dicephalus
o 40-60% stillborn
o Two heads
o 35% liveborn twins die in first 24 hours
o Single torso
o Usually single set of extremities
• Each set of conjoined twins is unique
o Associated malformations in some may
o Inseparable
constitute lethal condition
• Fetus-in-Fetu
o If lethal/inseparable, management focus is
o "Twin" forms a mass within an apparent
singleton on maternal safety
o Key difference between teratoma and
• Delivery mode should minimize
fetus-in-fetu is presence of vertebral morbidity
column • Aim to avoid classical cesarean section or
o Mass is well-demarcated as contained
bivalved uterus
within a membranous sac • Extensive uterine incision - risk accreta
o Commonest in upper retroperitoneum
spectrum/uterine rupture in future
o No malignant potential
pregnancies
o Excision is curative • Evolution of surgical technique has led to
• Parasitic Twin increasing numbers of separation attempts
o Ethical dilemma
o Vestigial fetal parts or incomplete twin
o Pre-operative surgical planning with
attached to fully developed co-twin
• Intact twin known as autosite multidisciplinary team
• Any vestigial parts may be seen • Skin expansion
• Post-operative wound care
Other Essential Information • Psychological counseling after separation
• Nomenclature in older twins
o Site of attachment + "pagus" (e.g.,
thoracopagus = twins joined at chest)
Axial ultrasound shows two fetuses III facing each

other with contiguous skin covering III and a shared
Cross pathology shows fused thoracic cavities splayed
open at autopsy. Note the contiguous skin covering III
8
heart HI. and separate spines HI.
21
III
C CONJOINED TWINS
o
-
;:
III
III
QI
Cl
QI
a.
;: (Left) Axialuansabdominal
'3 ultrasound shows anterior
~ fusion at the level of the
abdomen with two separate
stomachs EilI but a shared
liver=. Note the
contiguous skin cover III
which proves conjoined
twinning. (Right) Sagillal
common liver =
oblique T2WI MR shows a
in grossly
abnormal conjoined twins,
both of which are hydropic.
Note ascites and skin
edema IaE. Both twins also
had pleural effusions and

shows liveborn, conjoined
twins with omphalocele
rupture ~ complicating
delivery. This precipitated
emergent separation, which
was successful. (Right) Axial
CfCT in the same case as
previous image shows a
massively dilated common
=-
duodenum/proximal jejunum
This had been identified
in utero as a cystic structure,
but the exact nature was not
clear until after delivery.
(Left) Sagittal T7 WI MR
covering =
shows contiguous skin
but a relatively
small amount of bony fusion
EilI. (Right) Clinical
photograph of the same case
as previous image shows the
typical site of fusion in
pygopagus twins. The actual
skin allachment was smaller
than the areas touching,
which made separation
easier as the defect requiring
closure was quite small.
8
22
CONJOINED TWINS ~
c
;:;
is'
iD
Cil
....
ell
(II
DI
(Leh) Coronal T2WI MR
0'
shows IwO upper bodies BE. :l
(II
a single pelvis ICB and parI
of two lower extremities =.
There were in fact three
lower extremities, but one
was rudimenlary. (Right)
ullrasound shows bilateral
hydronephrosis =
in one 01
Ihe ischiopagus pair shown
in the previous image.
Hydronephrosis was
secondary to obstruction as
the twins had a common
cloaca. Only one 01 lour
kidneys had adequale
drainage and function.
Craniopagus Dicephalus
(Leh) Coronal oblique T2WI
MR shows a common skull
vaull wilh separale cerebella
= =.
brain
bUI shared supralenlOrial
(Right) Coronal
shows Iwo separale heads
!Ill wilh a single IOrso
and two upper extremities
=
Ell. This pregnancy was
terminated.
Fetus-in-Fetu Parasitic Twin

ullrasound shows a long
bone _Ihoughlto be a
femur, within an
intra·abdominal mass in a
lema Ie lelus. Postnatal
excision confirmed
le/us-in-Ietu. (Right) Gross
=
pathology shows the head
and upper exlremilies IIll
of a parasitic twin protruding
lrom the epigaslrium ollhe
co-twin.
8
23
Placental Sonolucencies 9-2
Abnormal Placental Location 9-6
Abnormal Placental Margin 9-10
Placental Mass-like Lesions 9-14
Placentomegaly 9-18
Abnormal Placental Cord Insertion 9-22
Abnormal Umbilical Cord 9-26
Abnormal Umbilical Vessels 9-32
•..o
'tl PLACENTAL SONOLUCENCIES
(.)
C'll
.~ DIFFERENTIAL DIAGNOSIS • Subchorionic towards fetal surface
:0 o Occasional PL are normal
E Common • Late second trimester
:)
all
• Placental Lake (PL) • Third trimester
~ • Placental Abruption (PA) o Numerous PL or early PL associated with
C
Gl • Marginal Sinus Vessels placental insufficiency
U
.!!! • Tornado-Shaped Vessels of Accreta • Intrauterine growth restriction (IUGR)
Q.
Less Common • Oligohydramnios
• Placental Cord Insertion Cysts • High resistive umbilical artery flow
• Complete Hydatidiform Mole o Power Doppler shows no flow in most PL
• Triploidy • Swirling flow seen with real time
scanning
o Can thrombose and fibrose
ESSENTIAL INFORMATION • Increased echogenicity
Key Differential Diagnosis Issues • Discernible wall
• Obtain standard placenta views • No swirling flow seen
o Sagittal long views • Placental Abruption (PA)
• Midsagittal to include lower uterine o Marginal PA is most common
segment • Hematoma has no blood flow
• Parasagittal • Placenta margin is lifted off uterus
o Axial views • Estimate how much placenta is detached
• Upper, mid, lower uterus o Retroplacental PA
• Use color Doppler in evaluating placental • May look like thick placenta when acute
lesions • Often presents with preterm labor not
o Marginal sinus vessels have flow but bleeding
abruption does not o Preplacental PA is rare
• Both can present with retroplacental • Blood in subchorionic/subamniotic space
hypoechoic region • May cause cord compromise if near cord
o Placental lakes often have no discernible insertion site
flow • Marginal Sinus Vessels
• Use real time grayscale findings to see o Retroplacental sonolucency
swirling flow o Normal maternal venous vessels
• Obtain cine clip if documentation of • Mostly myometrial veins
flow is important o Doppler will often show flow
• Correlate placental findings with fetal • Tornado-Shaped Vessels of Accreta
findings o Enlarged intra placental lacunae
o Fetal anomalies suggest triploidy o Triangle-shaped bizarre lucencies
o Intrauterine growth restriction suggests • Slow flow like with PL
triploidyor placental insufficiency o Look for signs of accreta
• Loss of myometrium
Helpful Clues for Common Diagnoses • Invasion beyond uterine confines: Scan
• Placental Lake (PL) with full bladder to look for invasion
o Enlarged intervillous vascular spaces
• Use color Doppler to evaluate for
• Contain maternal blood vascular flow
• May have fluid/fluid level o MR may help with diagnosis
o Variable size
o Transient nature Helpful Clues for less Common Diagnoses
• Change size and shape with time • Placental Cord Insertion Cysts
• Can completely resolve o Originate from cord or placental surface
o Location o Often multiple
• Within placenta without appreciable o t Morbidity with large cysts (> 5 cm)
border • IUGR
9
2
PLACENTAL SONOLUCENCIES "tI
iii
"C::::ID
• Hemorrhage Other Essential Information
..
III
• Rare cord accident Qo

• PLs rarely need follow-up c
o Can grow during pregnancy
o Common in the late second and early 3
• Complete Hydatidiform Mole third trimesters !:.
o Gestational trophoblastic neoplasia o Transient
n"
III
• 100% paternal genetic makeup • If numerous PLs then look very carefully at o
• 46 XX is most common karyotype o
..•
fetus Q.
o First trimester or early second trimester
o Triploidy
diagnosis o IUGR from placental insufficiency
• Abruption symptoms related to location of
• Cystic placenta PA
• Vascular mass o Marginal abruption present with bleeding
• No fetus o Retroplacental PA present with pain, fetal
• Periplacental hemorrhage common distress and pre term labor
o Clinical presentation
o Preplacental PA often asymptomatic unless
• Bleeding cord compression
• Hyperemesis • Have high index of suspicion for accreta
• Elevated maternal serum hCG levels o Patients often at high risk secondary to
• Triploidy prior cesarean sections
o Karyotype reveals 69 chromosomes
o Suspect placenta accreta if placenta previa
• Diandry if extra haploid is paternal (also and tornado-shaped vessels both present
called partial mole) o Look for loss of myometrium and vessels
• Digyny if extra haploid is maternal beyond myometrium
o Variable placenta appearance depending
• Evaluate location and pattern of
on source of extra chromosomes sonolucencies
• Large and cystic placenta if diandry o Placental lakes are infrequent and scattered
• Small placenta if digyny o Abruptions are most often marginal
o Abnormal fetus
o Marginal sinus vessels are retroplacental
• Severe IUGR but not mass-like
• Oligohydramnios
• Multiple anomalies, potentially
involving all organ systems
Placental Lake (PL) Placental Lake (PL)
Axial ultrasound shows a large venous lake =:I in the

placenta, near the cord insertion site HI. A follow-up
Axial ultrasound of the same placental region several
weeks later shows that the venous lake 11:I is much
9
study was recommended because the lucency was smaller. The cord insertion site ;s once again shown HI.
large and persistent.
3
•..
"C
o
PLACENTAL SONOLUCENCIES
o
III
.!:!
:c
E Placental Abruption (PAl Placental Abruption (PAl
::::l
(Lefl) Sagittal ultrasound
-
all
III shows a hypoechoic
colleclion of blood al the
C
Ql
U
placental margin =. The
III patient had a history of
ii: trauma, and the finding is
typical for a subacute
placental abruption. (RighI)
large relroplacental and
marginal abruplion. The
hematoma morphology is
complex and cystic" and
the abruption /if Is the
placenta EllI off the
myometrium.
Marginal Sinus Vessels Marginal Sinus Vessels

(Lefl) Axial ultrasound shows
typical normal subplacental
as well as marginal placental
and myometrial veins III
These vessels should not be
mistaken for abruption.
(RighI) Axial ultrasound
shows an abundance of
marginal sinus and
myometrial veins m.
Although the size of the
vessels was extreme in this
case, the outcome was still
normal.
Tornado-Shaped Vessels of Accreta Tornado-Shaped Vessels of Accreta

(Lef!) Axial ultrasound shows
enlarged vascular lacunae
= associated with placenta
accreta in this patient with
two prior c·sections and
placenta previa. No
appreciable myometrium is
seen EllI. (RighI) Sagittal
shows the typical
lacunae =
appearance of vascular
associated with
placenta accrela. Note the
area of myometrial absence
EllI
9
4
PLACENTAL SONOLUCENCIES "lI
i»
-
C'l
CD
::::I
III
lID
c:
Placental Cord Insertion Cysts Placental Cord Insertion Cysts 3
(Leh) AKial ultrasound shows 2:
a large cyst =:I at the cord
n'
insertion site of the placenta. III
Umbilical vessels are seen (')
within the cyst Eil (Right) ..,
o
AKialcolor Doppler Co
ultrasound of the same case
as previous image confirms
that the cyst =:I
is associated
with the umbilical cord
insertion site. Pregnancy and
fetal outcome were normal.

(Left) AKialtransabdominal
placenta is completely
replaced with cysts =-
There was no associated
fetus. (Right) AKial color
another molar pregnancy.
Note that the cystic placental
mass fills the uterus and is
markedly vascular =:I.

shows a cystic placenta =:I
and a fetus =- The fetus
had multiple mild anomalies
and intrauterine growth
restriction. Amniocentesis
results revealed triploidy.
the same fetus with triploidy
shows echogenic bowel =:I
and oligohydramnios.
9
5
•..
'C
o
ABNORMAL PLACENTAL LOCATION
o
iii
.!:! DIFFERENTIAL DIAGNOSIS Helpful Clues for Common Diagnoses
:c Common • Placenta Previa
E
::I o Subtypes of PP are based on the distance
• Placenta Previa
-
all between placenta margin and cervix
IV • Marginal Sinus Previa
C • Placenta Accreta Spectrum internal os (10)
GI
U • Complete PP completely covers 10
..!!! Less Common
Q. • Partial PP partially covers 10
• Succenturiate Lobe • Marginal PP within 2 cm of 10
o Second trimester PP often resolves
ESSENTIAL INFORMATION • Most PP seen < 20 wks resolve by 34 wks

• 5% PP incidence at 15-16 wks
Key Differential Diagnosis Issues • 0.5% PP incidence at term
• Rule out lower uterine segment (LUS) • Placental "migration" (trophotropism):
placentation in 2nd and 3rd trimesters Areas of placenta atrophy as others grow
o Transabdominal routine images • LUS "stretches" later in pregnancy
• Midsagittal view o Associated with placental abruption
• Parasagittal views • Patient presents with bleeding
o Perform transvaginal ultrasound (TVUS)if • Placental edge lifted by hematoma
LUS not seen with routine views • Mass-like hematoma seen by cervix
• Bleeding is not a contraindication o Associated with preterm labor
• Use careful technique • More common if also bleeding
• Watch screen while inserting probe • Assess cervical length
o Perform translabial/transperineal • Assess for 10 distention/funneling
ultrasound if TVUS not.possible • Cervical canal may be distended with
• Collapsed vagina is acoustic window blood
• Elevate maternal hips to minimize bowel o 5% of PP will have associated accreta
artifact • Marginal Sinus Previa
• Place probe on perineum (labia minora) o Marginal sinus PP is a subtype of marginal
• Is fetus or fluid in direct contact with cervix? PP
o Placenta may block direct contact o Evaluate marginal placental vein distance
o Floating fetus in 3rd trimester to 10
o Transverse presentation • Placental vessels < 2 cm from 10
• Does the uterus look asymmetrically thick? • Veins are maternal, not fetal
o Placenta & myometrium vs. area with only • Do not confuse with vasa previa
myometrium • Placenta Accreta Spectrum
• Succenturiate lobes often missed o PA: Pathologic nomenclature based on
o Placenta location assigned before uterus depth of placental invasion
completely evaluated • Accreta means myometrial attachment
• Have a high index of suspicion for accreta without muscle invasion
o Suspect accreta if previa & prior cesarean • Increta means myometrial invasion
section • Percreta means invasion through uterus
• t Risk with t number of cesarean sections • Imaging does not differentiate between
• Use color and pulse Doppler subtypes well
o Placenta accreta o PP & invasion of cesarean section scar
• Vessels may extend beyond myometrium • ~ Subplacental hypoechoic myometrial
o Succenturiate lobe zone « 2 mm)
• Vessels connect placentae • Vessels extending through myometrium
• Rule out vasa previa o Distended placental lacunae
o Pulse Doppler can help differentiate • Bizarre large sonolucencies
maternal from fetal vessels • "Tornado-shaped"
• Fetal vs. maternal heart rate • Often near PA site
9
6
ABNORMAL PLACENTAL LOCATION "tI
Qi
n
o MR findings
• Loss of normal low signal myometrium
o Cocaine use
• Symptoms at presentation
-
CD
:l
III
IlO
c
with T2WI o Incidental finding
3
• Avoid gadolinium o Painless bleeding !2:
o Fetal distress n
Helpful Clues for Less Common Diagnoses III
o Preterm labor
• Succenturiate Lobe o
o SL: Accessory placental lobe or lobes
• Multiple diagnoses often seen together ..•
o
Co
o Previa associated with accreta
• Often smaller than main lobe
o Succenturiate lobe may cause previa
o Identify placental cord insertion site
• Rule out vasa previa in every case of low
• Most often on main lobe
placentation
• May be velamentous (between lobes)
o Use color Doppler to find vessels in close
o Rule out vasa previa
proximity to 10
• Low SL o Use pulse Doppler to prove vessels are fetal
• Crossing vessels cover 10
and not maternal
• At risk for fetal hemorrhage
o Vasa previa and succenturiate lobe
o SL is often missed if the entire uterus not
• Vessels between placentae cross 10
imaged
o Vasa previa and PP/PA
• S% of all deliveries have SL
• Low placenta with velamentous cord
• Most often asymptomatic and discovered
insertion near 10
at delivery
• May present with bleeding if SL previa • Prognosis
o Placenta previa prognosis excellent with
• May present as retained product of
appropriate management
conception
• < 1% mortality
Other Essential Information o Placenta accreta prognosis related to
• High risk patients for abnormal placental predelivery planning
implantation • 7% mortality
o Prior placenta previa o Succenturiate lobe prognosis is excellent if
o Prior cesarean section no vasa previa
o Prior suction curettage • 60-80% fetal mortality if vasa previa
o Prior uterine surgery missed prenatally
o Advanced maternal age
o Multiparity
o Smoking
Placenta Previa Placenta Previa
Sagiltallfansa/xJominal ultrasound of a second trimester

pregnancy shows a complete placenta previa. The
Sagitlal color Doppler ullrasound in the third trimester of
the same pregnancy shows a marginal placenta previa.
9
inferior edge of the posterior placenta ID completely The placental edge I!lJ:I is close to but does not cover the
covers the internal cervical 05 &l. internal 05=. 7
•..o
1:1 ABNORMAL PLACENTAL LOCATION
o
"iii
.~
:c
E Placenta Previa Placenta Previa
~
(Left) Sagittal color Doppler
-
all
III
c:
GI
U
III
complete placenta previa
and bleeding shows the
placenta !Ill covering the
ii: cervix HI. In addition, there
is a subtle subplacental
abruption anteriorly =:I.
cervical canal =:I distended
with blood. The closed
portion of the cervix HI is
short.
Marginal Sinus Previa Marginal Sinus Previa

placental edge =:I is more
than 2 em from the internal
cervical as H:I. However, the
marginal placental vessels
!Ill are close to the cervical
os. (Right) Sagittal color
Doppler ultrasound conFirms
that the vessels are venous
and are located very close to
the internal 05 of the cervix.
The diagnosis of marginal
sinus placenta previa was
made in this patient with
second trimester bleeding.
Placenta Accreta Spectrum Placenta Accreta Spectrum

shows an exophytic bulge of
the lower uterine segment in
the region of placentation
and a prior cesarean section
scar. In addition, the normal
hypoechoic myometrium is
lost in this area HI. (Right)
Sagittal T2WI MR confirms
loss of myometrium HI in
this case of a placenta
percrela, which involved a
large portion of the placenta.
The =:I points to regions of
intact myometrium.
9
8
ABNORMAL PLACENTAL LOCATION ~
ill
-
l")
ftl
~
III
IlO
c:
Placenta Accreta Spectrum Placenta Accreta Spectrum 3
(Left) Sagittal color Doppler 2:
ultrasound shows multiple (j'
large placental vessels =:I III
extending beyond the o
confines of the myometrium o
in this case of placenta a.
percreta. (Right) Sagittal
shows loss of the
subplacental hypoechoic
myometrium .:I and a
distended "tornado-shaped"
placental lacuna Ea. The
pathologic final diagnosis in
this case was placenta
increta.
Succenturiate lobe Succenturiate lobe

shows an anterior placenta
=. However, asymmetric
posterior uterine wall
thickening HI suggests a
possible second placenta.
the lower uterine segment in
image, shows a second,
smaller, posterior placenta
=:I. The inferior edge of the
succenturiate lobe lies near
the cervical internal 05 •.
Succenturiate lobe Succenturiate lobe

the lower uterine segment
shows placental tissue
anterior = and posterior HI
to the cervix" It is difficult
to tell if there is connecting
tissue between the two
placental "masses". (Right)
Endovaginal color Doppler
as previous image. The
umbilical cord inserted
eccentrically upon the larger
posterior placenta and
crossing fetal vessels =:I are
identified between the main
placenta and the
succenturiate lobe.
9
9
•..o
't:I ABNORMAL PLACENTAL MARGIN
o
iii
,g DIFFERENTIAL DIAGNOSIS • Caused by discrepant size between
:c Common
chorion and basal plates
E o Placental marginal "shelf" seen with
::l
• Marginal Placental Abruption ultrasound
-
all
."c: • Circumvallate Placenta • Elevated margin of placenta
CIl • Synechiae • Placenta lifted towards cord insertion site
u
.!!! • Marginal Cord Insertion • Placenta edge appears to be floating free
a..
Less Common in fluid
• Chorioamniotic Separation o Short bands of tissue
• Placenta Accreta Spectrum • Extend from placental margin to
placental margin
Rare but Important
• Thicker earlier in pregnancy
• Vasa Previa • Tissue may become fibrosed
• Synechiae
ESSENTIAL INFORMATION o Fibrous band in uterus
• Secondary to uterine scar
Key Differential Diagnosis Issues • Amnion and chorion drape over
• Always scan entire placental surface synechiae
• Doppler essential for evaluating placental o Long bands of tissue
pathology • Extend from uterine wall to uterine wall
o Document cord insertion site
• Bands are thicker earlier in pregnancy
o Marginal cord insertion versus
• Stretch thin as uterus grows
velamentous cord insertion o Fetus moves freely around synechia
• Are branching vessels on surface of • Differentiates from amniotic bands
placenta or submembranous? o Placental implantation common
• Marginal insertion if all vessels on • Edge of placenta lifted onto synechia
surface of placenta • Follow course of synechia to show
• Velamentous cord insertion if any fetal uterine attachment
vessel is submembranous o Doppler may show flow in synechia
• Vasa previa if fetal vessels are near cervix • Marginal Cord Insertion
o Vessels beyond uterine wall with accreta
o Eccentric placental cord insertion
• Look for invasion of bladder • Within 2 em of placental margin
o Synechiae may show flow
o BattIedore placenta is a subtype
o Pulsed Doppler differentiates fetal vessels
• Thick placenta
from maternal • Small surface area of attachment
• Fetal arterial flow similar to cord Doppler • Higher risk for abruption
waveform o At risk for becoming velamentous cord
Helpful Clues for Common Diagnoses insertion
• Marginal Placental Abruption • Cord insertions < 5 mm from placental
o Most common type of placental abruption margin
o Detachment of edge of placenta • Placenta may involute and leave vessels
• Raised placental margin seen in 50% subplacental
• Submembranous blood • At risk for vasa previa if vessels near
o Appearance of hematoma related to age cervix
• Acute blood can be isoechoic to placenta Helpful Clues for Less Common Diagnoses
• Becomes hypoechoic with time • Chorioamniotic Separation
• Sonolucent if old o Persistent unfused amnion after 16 wks
• Circumvallate Placenta • Primary nonfusion
o Membranes attach to fetal surface of
• Post amniocentesis
placenta instead of villous margin o Ultrasound findings
9
10
ABNORMAL PLACENTAL MARGIN "ll
iii
n
CD
::l
• Thin amniotic membrane separate from • Rare complications of significant S'
uterine wall circumvallate placenta 110
C
o Associations with nonfusion o Abruption
3
• Trisomy 21 o Intrauterine growth restriction !2:
• Genitourinary anomalies o t Risk if > 2/3 of margin involved n
!.
• Oligohydramnios • Look for fetal anomalies if chorioamniotic o
• Placenta Accreta Spectrum separation seen o
o Placenta grows beyond endometrial lining o Markers for trisomy 21
a.
o Associated with multiple prior cesarean o Maternal serum screen results
sections • Pathologic classification of accreta
o Ultrasound and MR findings o Accreta vera
• Loss of subplacental myometrium • Invasion through endometrium
• Vessels or placental tissue beyond uterus • No muscle invasion
• Distended vascular lacunae o Increta
Helpful Clues for Rare Diagnoses • Myometrial invasion

o Percreta
• Vasa Previa
o Submembranous fetal vessels within 2 em • Invasion beyond uterus
o Imaging with only 33-38% sensitivity for
of internal cervical os
o Clinical scenarios
all types of accreta
• Succenturiate lobe crossing vessels • Must have high clinical suspicion for
• Velamentous cord insertion near cervix diagnosis
o Transvaginal Doppler essential for Alternative Differential Approaches
diagnosis • Placenta implanted on a band of tissue
• Color Doppler shows crossing vessels o Synechia versus circumvallate placenta
• Pulsed Doppler to prove fetal vascularity • Follow band to show insertion sites
Other Essential Information • Synechia extends from uterine wall to
• Size of abruption is associated with outcome uterine wall
o Excellent prognosis if < 30% detached
• Circumvallate extends from placenta to
o Poor prognosis if > 50% detached
placenta
o Rule out amniotic bands
o Look for other areas of abruption once one
abruption is seen • Thinner than synechia or placental shelf
• Retroplacental, preplacental, multiple • Fetus becomes entrapped in bands
margins • Fetal defects and amputations
Marginal Placental Abruption Marginal Placental Abruption
Sagittal transabdominal ultrasound shows the inferior Long axis ultrasound shows the superior margin of the
9
hypoechoic wedge-shaped hematoma
clot;s near the cervix (ex).
=-
margin of the placenta III lifted off the uterus by a
The blood
placenta is flattened and displaced. A marginal
hypoechoic collection of blood BI is causing this mass
effect.
11
•..o
'C ABNORMAL PLACENTAL MARGIN
(.)
III
.!:!
:c
E Circumvallate Placenta Circumvallate Placenta
::::I
-
all
III
C
GI
U
placenta =
shows the edge of the
uterine wall_
lifted off the
There is no
.!!! associated hematoma .
0.. (Right) Sagittal oblique
ultrasound of the same
placenta as previous image
shows a marginal shelf =
that extends from one margin
of the placenta to the other
Ea. This finding differentiates
circumvallate placenta from
uterine synechia.
Synechiae Synechiae
the edge of the placenta

lifted by a uterine band _
=

as previous image shows that
the band inserts on the
uterine wall. and is
therefore a uterine synechia.
placenta =
A significant amount of
this synechia.
is implanted on
Marginal Cord Insertion Marginal Cord Insertion

attachment =
the umbilical cord
on the lateral
edge of the posterior
placenta _ (Right) Axial
shows that the umbilical
vessels from the cord branch
on the fetal surface of the
placenta III. No
velamentous vessels were
seen; however, this
extremely marginal cord
insertion is at risk for
becoming a velamentous
cord insertion.
9
12
ABNORMAL PLACENTAL MARGIN "ll
iii
n
..
CD
::l
III
go
c
Chorioamniotic Separation Chorioamniotic Separation 3
(Leh) Sagittal ultrasound !2:
shows the placental edge HI (j'
and the amnion 11:I III
extending from the margin. o
(Right) Coronal ultrasound o
..•
confirms significant amniotic Q.
membrane = separation
from the placenta and
uterine wall. The fetus had
multiple anomalies and
trisomy 18, one of the causes
of delayed chorioamniotic
fusion.

(Left) Sagittal
shows uterine wall
irregularity and loss of the
normal myometrial
hypoechoic zone =.
Sagittal color Doppler
(Right)

large subplacental vessels
extending beyond the
expected confines of the
uterus=.
Vasa Previa Vasa Previa

ultrasound shows an anterior
placenta III and a posterior
placenta HI with an
intervening placental
sonolucency 11:I overlying
the internal 05 of the cervix
ffi (Right) Sagittal pulsed
fetal arterial flow between
the two placentas. The
sonolucency was a vein that
changed caliber during
scanning. Here it is quite
small =. The fetal vessels
cover the internal as III
9
13
•..
't:l
o
PLACENTAL MASS-LIKE LESIONS
o
c;
.~ DIFFERENTIAL DIAGNOSIS o Doppler shows no flow in hematoma
:c Common
o Look for signs of fetal distress
E • Assess fetal heart rate
::)
• Acute Placental Abruption • Fetal tone and movement
•.
all
ra
c:
GI
• Placental Implantation on Myoma
• Focal Myometrial Contraction (FMC)
• Cord Doppler evaluation
o Assess amount of placenta detached
u
ra • Chorioangioma • < 30% associated with good prognosis
ii: • Complete Hydatidiform Mole • > 50% associated with> 50% fetal death
Less Common • Placental Implantation on Myoma
• Placental Teratoma o Myoma appearance
• Hypoechoic to uterus and placenta
• Calcifications are common
ESSENTIAL INFORMATION o Degenerating myomas
Key Differential Diagnosis Issues • Central cystic change
• Routinely evaluate the whole placenta • Decreased blood flow
o Sagittal views o Retroplacental myomas are associated with
• Midsagittal (with lower uterine segment) abruption
• Right and left para sagittal • Use Doppler to differentiate blood from
o Axial views myoma
• Upper, mid, lower o Rarely associated with intrauterine growth
• Identify location of mass restriction
o In the placenta • Large amount of placenta implanted on
• Chorioangioma myomatous uterus
• Extension of abruption • Focal Myometrial Contraction (FMC)
• Teratoma (rare) o Normal finding throughout pregnancy
o Behind the placenta o Uterine wall contraction
• Abruption o Inner contour affected most
• Myoma • Inner uterine bulge

·FMC • Outer contour relatively preserved
o Replaces the placenta o FMC tends to be isoechoic to uterine wall
• Complete hydatidiform mole o Will resolve or change with time
• Interrogate mass with Doppler • May take more than 30 minutes
o Masses with flow • May need to reassess on follow-up exams
• Chorioangioma • Chorioangioma
• Complete hydatidiform mole o Benign, vascular placental tumor
o Masses with little or no flow • Most < 5 em
• Abruption o Common location is on fetal side of
.FMC placenta, near cord insertion site
o Characterize pattern of flow o Ultrasound features
• Peripheral flow with myoma • Well-defined mass
• Linear contiguous flow with FMC • Generally hypoechoic
• Heterogeneous if hemorrhage, infarction
Helpful Clues for Common Diagnoses or degenerating
• Acute Placental Abruption • Variable amount of blood flow
o Identify abruption location
• Complete Hydatidiform Mole
• Marginal (most common) o Most common type of gestational
• Retroplacental trophoblastic neoplasia
• Preplacental (most rare) • 100% paternal genetic makeup
o Retroplacental abruption can mimic mass
o Variable ultrasound appearance
• Thick placenta may be only finding • Placental cysts
• Acute blood isoechoic to placenta • Anembryonic gestational sac
• Blood becomes hypoechoic with time
9
14
PLACENTAL MASS-LIKE LESIONS "ll
iii
n
o
• Associated perigestational hemorrhage
Doppler findings
o Evaluate placenta first and quickly if fetal
distress
-
CD
::::I
III
Il"
c:
• t Flow between cysts • If large abruption seen then curtail exam 3
• High-velocity, low-impedance flow • Viable fetus may need emergent delivery 2:
o Associated theca lutein cysts o Patients at high risk for abruption c;'
III
• Bilateral, multi septated ovarian cysts • Prior history of abruption
• Seen in 50% of cases • Trauma
• Hypertension
..
o
o
Co
• Placental Teratoma • Cocaine use
o Extremely rare • Smoking
o Benign mature teratoma
• Increased parity
o Calcifications suggest diagnosis
• Advanced maternal age
o Differentiate from demised twin next to
• Placenta implanted on myoma
placenta • Signs and symptoms of molar pregnancy
o Bleeding
o Histogenesis theories
o Rapid uterine enlargement
• Twin incorporated in placenta
o Hyperemesis
• Primitive gut tissue grows in placenta
• t Human chorionic gonadotropin levels
Other Essential Information o Preeclampsia
• Placental masses may be either incidental at • Signs and symptoms associated with large
time of exam or symptomatic chorioangioma
• Symptoms associated with abruption o > 5 em considered large
o Retroplacental abruption o Elevated maternal serum alpha-fetoprotein
• Preterm labor o Hydrops fetalis
• Pain • t Arterial flow leads to high output
• Fetal distress cardiac failure
o Marginal abruption • Fetal anemia
• Bleeding with or without contractions o Polyhydramnios
o Preplacental o Preterm labor
• Asymptomatic o Preeclampsia
• Fetal distress
o Large abruptions can be multifocal
• Can bleed directly into placenta
Acute Placental Abruption Acute Placental Abruption
collection=
Sagittalultrasound shows a complex hypoechoic blood
that has lifted the placenta E!lI off the
myometrium. This large abruption was retroplacental
Sagittal ultrasound of the placenta in a patient wiU,
=
preterm labor but no bleeding shows both a
retroplacentalPlllla
and a preplacental abruption.
9
and marginal.
15
•..
'C
o
PLACENTAL MASS-LIKE LESIONS
(,)
III
.~
:c
E Acute Placental Abruption Acute Placental Abruption
:::l
..
all
III
c:
Ql
abruption =-
shows a large retroplacental
which mimics
a placental mass. The
U
..!!! placenta HI is lifted off the
Q. uterine walt and a large
portion is detached. (Right)
Axial ultrasound of the same
case as previous image
shows the different
echogenicities of the
myometrium" hematoma
and placenta HI. The
hematoma is hypoechoic.
Placental Implantation on Myoma Placental Implantation on Myoma

shows placental implantation
on a leiomyoma. The fibroid
•• is hypoechoic, and the
placenta HI implants directly
upon it. (Right) Sagiltal
myoma =
shows a more heterogeneous
The placenta HI
is again seen implanting
directly upon the myoma.
Focal Myometrial Contraction (FMC) Focal Myometrial Contraction (FMC)

shows a retroplacental focal
myometrial contraction _
which mimics a
retroplacental myoma.
Follow-up ultrasound was
necessary to prove this was a
contraction. (Right) Axial
site of the FMC =

myometrium is thick at the
more typical appearance

This
shows how the inner

myometrium is preferentially
thickened.
9
16
PLACENTAL MASS-LIKE LESIONS 1:1
iii
n
ell
:::J
••
III
Qo
C
Chorioangioma Chorioangioma 3
(Left) Axial color Doppler ~
ultrasound shows a typical C:;'
chorioangioma. The mass III !!!.
is hypoechoic with blood o
flow. It is located on the fetal o
..,
side, near the umbilical cord Co
insertion Site" (Right)
Axial color Doppler
heterogeneous placental
mass with vascular flow.
Large chor;oangiomas III are
uncommon and associated
with fetal cardiac failure.

(Left) Sagittal pulsed
Doppler ultrasound of an
early second trimester
pregnancy shows that the
uterus is filled by a cystic,
vascularmass" and that
there is no fetus. (Right)
shows a molar pregnancy
and a coexistent twin. The
mole" is cystic and is
separated from the normal
placenta BI by a thick
dividing membrane IIll.
Placental Teratoma Placental Teratoma

a well-marginated
heterogeneous mass
arising from the placenta BI.
The mass has diffuse
medium level echoes with
floating debris. (Right)
focal echogenicity ~ with
shadowing consistent
with a large calcification, in
the mass. Calcification is the
most specific finding (or this
rare mass.
9
17
•..o
'0 PlACENTOMEGAl Y
(.)
III
.!:! DIFFERENTIAL DIAGNOSIS • Reversed diastolic flow always abnormal
:0 o Fetal middle cerebral artery (MCA) Doppler
E Common • Higher resistive flow than UA
::l
• Hydrops • Severe IUGR leads to ~ resistance
-
all
III • Acute Placental Abruption • Use MCA peak systolic velocity to assess for
C
Gl • Macrosomia fetal anemia
U
.!!! • Twins o Insonation angle is important
ll.
less Common • 00 angle on MCA
• Battledore Placenta o Use normogram to compare with
• Intrauterine Growth Restriction (IUGR) gestational age
• t Velocity suggests anemia
Rare but Important
• Triploidy Helpful Clues for Common Diagnoses
• Hydrops
o Excessive fetal body fluid
ESSENTIAL INFORMATION • Skin edema
Key Differential Diagnosis Issues • Pleural effusion
• Normal placenta is < 40 mm thick • Ascites
• Placenta grows approximately 1 mm/wk • Pericardial effusion
o 10 wk placenta = 10 mm o Hydrops if t fluid in 2 areas
o 20 wk placenta = 20 mm o Amniotic fluid findings variable
o 30 wk placenta = 30 mm • Polyhydramnios
• Evaluate placental attachment • Oligohydramnios
o Normal attachment o Placenta edema
• Hydrops • More likely if immune hydrops

• Macrosomia o Common causes of nonimmune hydrops
• Diabetes • Infection
• IUGR • Aneuploidy (Turner most common)
o Small attachment • Heart failure
• Battledore placenta • Fetal anemia of any etiology
o Heterogeneous attachment • Acute Placental Abruption
• Abruption o Acute blood has same echogenicity as
• Evaluate placental morphology placenta

o Increased sonolucencies • Mimics thick placenta
• Triploidy • Becomes hypoechoic with time
o Direct hemorrhage into placenta can occur
• IUGR
o Focal thickening • Most common with retroplacental
• Dichorionic twins abruption
• Focal abruption • Arterial hemorrhage
o Large thin placenta o Use power Doppler
• Monochorionic twins • No flow in hematoma
o Heterogeneous thick placenta o > 50% detachment associated with> 50%
• Abruption fetal death

• IUGR • Macrosomia
• Use Doppler to assess placental function o Definition
o Uterine artery Doppler • Estimated fetal weight> 90th percentile
• Low resistive flow in second trimester • Birthweight > 4500 g
• Post systolic notch abnormal> 18 wks o Causes
o Umbilical artery (UA) Doppler • Hereditary
• Low resistive flow after 2nd trimester • Diabetes
• Absent diastolic flow abnormal> 16 wks • Beckwith-Wiedemann (BW)
• Systolic/diastolic ratio < 3.0 if> 30 wks o Polyhydramnios
9
18
PlACENTOMEGAl Y "'tl
iii
n
• Both hereditary causes and diabetes

associated with t fluid
• TripIoidy
-
CD
:l
III
Qo
c:
• Impaired swallowing if macroglossia and o Karyotype is 69 XXV or 69 XYY 3
BW IT
• Diandry is 69 XYV C;O
• Twins • Digyny is 69 XXV !!!.
o Dichorionic twins may have appearance of
o Partial mole if diandry C')
single large placental mass o
~
o Placental findings with triploidy Q.
• "Twin peak" or "delta" signs are focal • Thick cystic placenta more common if
point where 2 placentas meet partial mole
• Thick membrane (4 layers) extends from • Thin placenta more likely if digyny
"peak" or "delta" o Fetal findings
o Large thin placenta of monochorionic
• Severe IUGR
twinning • Multiple anomalies
• No triangular peak o Theca-lutein cysts in maternal ovaries
• Thin membrane (two layers) • Enlarged ovaries with multiple cysts
Helpful Clues for less Common Diagnoses • Seen more often with partial mole
• Battledore Placenta o Oligohydramnios
o Thick placenta with small attachment
• t Risk for abruption
• Look for treatable causes of hydrops
o Marginal cord insertion site
o Fetal anemia
• Within 2 cm of placental margin • Use MCA peak systolic velocity values
• At risk for becoming velamentous • Treated with in-utero transfusion
• Intrauterine Growth Restriction (IUGR) o Fetal tachyarrhythmia
o Estimated fetal weight < 10th percentile
• Treated with medication
o Variable placenta appearance
• Severe IUGR can mimic triploidy
• t SonoIucencies
o Placenta with sonolucencies
• Calcifications o Oligohydramnios
• Thin or thick placenta o Preeclampsia presentation
o Doppler findings
o Need amniocentesis to differentiate
• Uterine artery with post systolic notch
• High resistive UA waveform
• Low resistive MCA waveform
o Oligohydramnios
Sagittal ultrasound shows placentomegaly from immune

hydrops. The placenta measures 7.3 cm thick. In shows polyhydramnios =-
Axial ultrasound of the same case of immune hydrops
Once again the thick
9
addition, there is fetal anasarca Bl pleural effusion III placenta is seen anteriorly • as is the torso of the
and ascites III. hydropic fetus Elll
19
'E PLACENTOMEGALY
o
u
"iii
.2
:c
E Acute Placental Abruption Acute Placental Abruption
:::)
-
011
III a markedly thick and
C heterogeneous placenta. In
41 this case there was a large
U
.!!! acute retroplacental and
Il.. intraplacental hemorrhage.
(Right) Axial ultrasound in
another case shows what
initially appears to be a thick
heterogeneous placenta III
However, a large
hypoechoic subacute
retroplacental abruption 81
has Ii(ted the placenta IIlIIl off
the uterine wall, and the two
together mimic a thick
placenta.
Twins Twins
the Htwin peak" or "delta"
sign =:I of a dichorionic,
diamniotic gestation. The
two placentae meet at the
area of focal thickening, and
the thick 4 layer membrane
arises from the peak 81.
(Right) Sagittal T2WI MR
shows a long, thin placenta
in a case of monochorionic
twinning 1IlIIl. Notice the lack
of any focal placental
thickening.
Battledore Placenta Battledore Placenta

a thick placenta with a
relatively small attachment
surface area to the uterus
=:I. (Right) Axial oblique
placenta shows that the cord
insertionsite. is near the
placental margin I!lIIl. This
pregnancy was complicated
by placental insufficiency
and IUCR.
9
20
PLACENTOMEGALY ::!!
III
n
..
lD
:l
III
IlO
Intrauterine Growth Restriction (IUGR)
c:
Intrauterine Growth Restriction (IUGR) 3
(Left) Sagi!lal ultrasound 2:
shows a thickened placenta
IIIlI in a pregnancy
n'
III
complicated by o
hypertension, o
..•
oligohydramnios, and IUGR. Q,

image once again shows a
thick placenta (calipers) as
well as oligohydramnios.
Note the lack of fluid
surrounding the fetus 1IIlI.
Intrauterine Growth Restriction (IUGR) Intrauterine Growth Restriction (IUGR)

(Left) Sagittal pulsed
UA in the same pregnancy
absent diastolic flow 1IIlI.
(Right) Axial pulsed Doppler
ultrasound of the MCA
shows lower resistive flow
than the UA. There is more
diastolic flow IIIlI in the MeA
than in the UA. This reversal
of the normal relationship
between the two vessels
suggests the fetus is in "brain
sparing" physiology
secondary to severe
Triploidy
shows a thick placenta
which contains multiple
=
cysts ElII. The fetus had
severe IUGR and multiple
anomalies. (Right) Axial
ultrasound of one of the
ovaries, in the same case as
previous image, shows
enlargement secondary to
multiple theca lutein cysts.
The fetus had triploidy.
9
21
'E ABNORMAL PLACENTAL CORD INSERTION
o
(.)
CII
.!:! DIFFERENTIAL DIAGNOSIS o Good prognosis if isolated finding
:c '---- o Sometimes associated with other placental
E Common abnormalities
::::l
all
• Marginal Cord Insertion • Small placenta
-CII
c:
Gl
U
• Velamentous Cord Insertion (VCI)
Less Common
• Unusually thick placenta (Battled ore)
• Monochorionic twinning
CII
• Umbilical Cord Cyst • Abruption
a:: • Intrauterine growth restriction
• Vasa Previa (VP)
o Progression to velamentous cord insertion
Rare but Important
• Rare complication
• Umbilical Cord Aneurysms • More likely if PCI is < 5 mm from margin
• Follow-up scans indicated
ESSENTIAL INFORMATION • Velamentous Cord Insertion (VCI)
--- o Membranous cord insertion
• VCI is often adjacent to placenta
• Placental cord insertion (PCI) identification • Some or all vessels are submembranous
o Easily achievable
• VCI may be seen between two placental
• Seen in almost 100% 2nd trimester cases lobes
• More difficult if posterior placenta and o Atypical vessel appearance from lack of
3rd trimester fetus placental support
o Use grayscale first
• Dilated vessels
• Find general area of PCI • Excessively separated vessels
• Less motion artifact than Doppler o Doppler essential for diagnosis
o Use color Doppler to confirm
• Helps identify VCI
• Rule out adjacent cord • Shows vessels extending from VCI to
• Show insertion and branching vessels placenta
• All vessels should be on fetal surface of • Pulsed Doppler proves vessels are fetal
placenta
• Rule out submembranous vessels Helpful Clues for Less Common Diagnoses
o Use pulsed Doppler to show fetal flow • Umbilical Cord Cyst
• Low resistive arterial flow o 33% of all UC cysts are at PCI
• Document fetal heart rate • Other 2/3 are mid cord or near fetus
• Look for PCI routinely in high risk cases o Often multiple and clustered at PCI
o Monochorionic twins o PCI cysts are less likely to resolve
o Placenta previa • First trimester UC cysts often resolve
o Succenturiate lobe o Rare complication includes intracystic
o Abnormally large or small placenta hemorrhage
o Intrauterine growth restriction • May lead to cord compromise
o Anomalous fetus o Rarely associated with fetal anomalies and
• Use Doppler to make a specific diagnosis aneuploidy
o Look for submembranous vessels • Genitourinary anomalies
• Velamentous cord • Trisomy 18
• Vasa previa • Amniocentesis probably not necessary if
o Cyst versus aneurysm isolated finding in low risk patient
• Identical appearance without color • Vasa Previa (VP)
Doppler o Submembranous fetal vessels near internal
o Use pulse Doppler cervical os
• Differentiate maternal from fetal vessels • Within 2 cm of os considered VP
o VP from succenturiate lobe
• Most common etiology
• Marginal Cord Insertion
o PCI is within 2 cm of placental edge
9
22
ABNORMAL PLACENTAL CORD INSERTION "'tl
iii
o
• Communicating vessels between main Other Essential Information
.•
ClI
:l
Dl
lobe and succenturiate lobe located near go
• Do not confuse VP with marginal sinus c:
internal cervical os previa (MSP) 3
• Associated with low lying placenta o MSP definition 2:
(primary or succenturiate) • Low lying placenta
o
!!!.
o Vasa previa from VCI • Marginal placental vessels < 2 cm from o
• Low lying placenta with VCI internal cervical os ..•Co
o
• Velamentous vessels near internal o MSP vessels are maternal
cervical os • Pulse Doppler shows placental venous
o Prenatal diagnosis is imperative flow
• 60-80% fetal mortality associated with • No fetal arterial flow detectable
missed diagnosis • Bleeding from MSP is maternal blood
• Fetal exsanguination with cervical o VP vessels are fetal
dilatation o Vasa previa vs. marginal sinus previa
Helpful Clues for Rare Diagnoses management
• Umbilical Cord Aneurysms • MSP managed as marginal placenta
o Umbilical artery (UA) aneurysm previa
• Most common location is at PCl • MSP may resolve with advancing
• Saccular dilatation of UA pregnancy
• May have arteriovenous fistula to • VP managed with elective cesarean
umbilical vein section delivery
• Associated with single umbilical artery, • 3rd trimester VP often managed as an
fetal anomalies and trisomy 18 inpatient
• Best prognosis if isolated finding • Look for PCI in multiple gestation cases
o Umbilical vein (UV) varix o Not all discordant twin growth is
• Most common location is twin-twin transfusion
intraabdominal in fetus • Suspect diagnosis if no fluid discordance
• Rarely in free floating loops of cord • Monochorionic twinning at higher risk
• Associated with increased venous for VCI
pressure and hydrops • Unequal sharing of placenta is possible
• Rarely can thrombose or rupture cause of discordant growth
Marginal Cord Insertion Marginal Cord Insertion
Sagittal transvaginal ultrasound shows the placental

cord insertion III is located within S mm of the thin
Sagittal color Doppler ultrasound confirms that the
umbilical cord inserts on the margin of the placenta HI
9
placental margin HI There is risk of progression to a All the vessels are attached to the placenta •• and no
velamentous insertion. velamentous vessels are seen.
23
•..o
'a ABNORMAL PLACENTAL CORD INSERTION
o
iij
.!:!
:c
E Marginal Cord Insertion Marginal Cord Insertion
::J
~ (Left) Sagittal ultrasound
.."'
C insertion site =
shows the umbilical cord
along the
Ql
u margin of a thick placenta
with a small uterine
"'
ii: implantation surface area
(battledore placenta). Note
the dividing vessels at the
insertion site. (Right) Sagittal
ultrasound from the same
patient as previous image,
shows an associated
marginal abruption
extending
=
from the inferior
placental margin III to the
cervix ~ This pregnancy
was complicated by
Velamentous Cord Insertion (VCI) Velamentous Cord Insertion (VCI)

(Left) Transverse power
Doppler ultrasound in a case
of monochorionic twinning
and discordant growth
shows the small twin's cord
inserts upon the posterior
uterus EB The cord vessels
travel beneath the
membranes III to reach the
anterior placenta BII. (Right)
Sagitlal color Doppler
ultrasound shows another
case with velamentous cord
insertion -= =
between an
anterior placenta and a
posterior succenturiate lobe
EB
Umbilical Cord Cyst

two anechoic cysts III
adjacent 10 the umbilical
cord BII and placenta Ill.
the cyst =
umbilical cord drapes over
which is located
near the insertion site •.
9
24
ABNORMAL PLACENTAL CORD INSERTION
Umbilical Cord Cyst Umbilical Cord Cyst

anechoic cord insertion cyst
11:I incidentally noted in a
second trimester case.
ultrasound in the third
trimester, shows the cyst 11:I
is no longer anechoic. It now
contains diffuse low level
echoes E!lI and echogenic
materia/la At delivery, a
hemorrhagic cyst was found
at the cord insertion site.
Vasa Previa (VP) Vasa Previa (VP)

ultrasound shows prominent
vessels 11:I within 2 em of the
internal cervical 05 •.
(Right) Sagittal pulsed
fetal arterial flow within the
vessels. The placental edge
11:I is also seen on this
image. The patient has a
velamentous cord insertion
with fetal vessels in close
proximity of the internal
cervical as.
Umbilical Cord Aneurysms Umbilical Cord Aneurysms

shows two cyst-like lesions
11:I at the placenta cord
insertion site. (Right) Sagittal
power Doppler ultrasound
shows blood flow in these
lesions 11:I. Pulsed Doppler
showed arterial (low in these
umbilical artery aneurysms.
This fetus had trisomy 78.
9
25
"•..o
(J
ABNORMAL UMBILICAL CORD
III
.!:! DIFFERENTIAL DIAGNOSIS • Patent urachus: Cystic mass superior to,
:c Common
and communicating with, bladder
E • Obstructed bladder decompresses into
~
• Umbilical Cord Cyst urachus and base of cord
-
all
III o Allantoic Cyst with Patent Urachus o Omphalomesenteric Duct Cyst
C
Gl o Omphalomesenteric Duct Cyst • 2° to omphalomesenteric duct remnant
lJ
.!!! o Pseudocyst • + Abdominal wall anomalies
11. • Cystic Wharton Jelly • + Intraabdominal mesenteric cysts
• Omphalocele (Mimic) • + Other severe anomalies
• Physiologic Gut Herniation (Mimic) o Pseudocyst
Less Common • Often associated with cystic Wharton
• Cord Knot jelly
• Short Cord • May also be sequela of cord hematoma
• Abnormal Cord Coiling • Cystic Wharton Jelly
• Cord Hematoma o Mucoid degeneration of abnormal
• Cord Thrombosis Wharton jelly
o Innumerable small pseudocysts develop
surrounding cord vessels
ESSENTIAL INFORMATION o Likely to be associated with aneuploidy
Key Differential Diagnosis Issues and syndromes
• Cord assessment is an important part of all • Omphalocele (Mimic)
OB scans o Smooth mass protruding from central
o Look at abdominal cord insertion site anterior abdominal wall with covering
o Look at placental cord insertion site membrane
o Evaluate cord structure o Umbilical cord inserts onto membrane ,
• Are the vessels normal? usually central but may be eccentric
• Is the cord length normal? o Liver and small bowel most common
• Is there an appropriate degree of "twist" contents (those with small bowel most
to the vessels? likely to be confused with abnormal cord)
• Physiologic Gut Herniation (Mimic)
Helpful Clues for Common Diagnoses o Normal embryological developmental
• Umbilical Cord Cyst phenomenon
o Equally common at fetal & placental ends
o Bowel elongates, herniates into base of
and in free loops of cord cord, rotates 270°, then returns to
o May be paraxial (eccentric, do not displace
peritoneal cavity
vessels) or axial (centrally located and o Bowel returns to abdomen by 11.2 weeks
splay vessels) o Should not extend more than 1 cm into
o Generally thin-walled, anechoic, often
base of cord
multiple o Never contains liver
• If echogenic content, consider intracystic
hemorrhage, which may lead to cord Helpful Clues for Less Common Diagnoses
compromise • Cord Knot
o May be true cysts (allantoic, o True knot
omphalomesenteric duct cysts) or • Most common in monoamniotic twins
pseudocysts • Rarely also seen in singletons
o Isolated cord cysts may spontaneously • Risk factors include advanced maternal
resolve with etiology never determined age, multiparity, long umbilical cords
o Allantoic Cyst with Patent Urachus • May restrict flow - hypoxia, growth
• Always near fetal insertion restriction
• May grow and compress cord • May occlude cord - fetal demise
• Allantoic cysts may be isolated or • Reported to lead to a 4-fold increase in
communicate with the urachus fetal loss
9
26
ABNORMAL UMBILICAL CORD "ll
iii
n
o False knot o Lack of flow on color or power Doppler ..
CD
:l
III
• Due to kinks in vessels, not a true knot o Venous thrombosis is a cause of sudden Qo
• No known clinical significance fetal demise C
3
• Short Cord o Most cases with surviving fetuses are !l.
o Average cord is 55 cm (range 35-80 cm) reported as pathological finding after n'
III
o Not possible to measure length prenatally, emergency delivery for distress in labor
o
but short cord subjectively associated with o Umbilical vein varix is a risk factor o
fetus being "tethered" o May occur following invasive prenatal a.
o Watch fetal movement in real time to procedures, especially if large hematoma
assess for akinesia/arthrogryposis sequence compresses vessels
o Associated with abruption/cord rupture o May occur in association with large cord
• Abnormal Cord Coiling cysts, particularly at placental end of cord
o Normal cord is helical, with up to 380
helices
• Cord embryology
o Coiling is well established by 9 weeks and
o Early connecting stalk connects the
is thought to strengthen cord
embryo to the chorion
o Lack of normal coiling and length
o Allantois forms from caudal end of yolk
associated with fetal akinesia
sac
• Look at movements in real time o Cord formed from fusion of allantois and
• Assess joints for abnormal posture connecting stalk
• Cord Hematoma o Allantois functions as primitive bladder
o True cord hematoma is due to and early blood forming organ
extravasation of blood into Wharton jelly • Persistent segments of allantois are
surrounding cord vessels termed urachal remnants
o Use Doppler to look for increased vascular
• Urachus serves as "pop-off valve" to
resistance if large hematoma decompress bladder if outlet obstruction
o May occur following invasive prenatal
• Allantois involutes to become median
procedures umbilical ligament
o May also be seen adherent to cord
• Multiple umbilical cord cysts associated with
secondary to intra-amniotic bleeding from 7.6x increased risk of poor outcome
any cause • Straight cords with few or absent helices are
• Cord Thrombosis associated with adverse fetal outcomes
o Look for hypoechoic material distending
vessels on grayscale images
Umbilical Cord Cyst Umbilical Cord Cyst
Transvaginal ultrasound shows the yolk sac ~ outside

the amnion !Ill thai conlains the embryo lEI and
Axial oblique color Doppler ultrasound shows an axial
simple cysl !Ill wiUlin U,e cord. splaying the vessels,
9
developing cord. A cord cyst E!1 is seen. This resolved close to the abdominal insertion. This was an isolated
spontaneously, and the infant was normal at birth. finding in an otherwise normal fetus.
27
•..
't:l ABNORMAL UMBILICAL CORD
o
o
Cij
.2
:c
E Allantoic Cyst with Patent Urachus
~
(Left) Sagi!lal ultrasound
-
all
shows a large allantoic cyst
", =:I at the fetal end of the
r:::
CI> umbilical cord. A patent
u
", urachus was not seen
ii: prenatally but was
suspected, given the size and
location of this umbilical
cord cyst. (Right) Clinical
photograph of a newborn in
a similar case shows a
urine·filled umbilical cord
cyst. A palent urachus was
diagnosed on voiding
cystourethrogram and was
surgically treated.
Allantoic Cyst with Patent Urachus

(Left) Cross pathology of a
fetus with prune belly
syndrome shows fluid 11II
within the cord; which was
attributed to communication
with the bladder through a
patent urachus. (Right)
Ultrasound of the umbilical
cord shows a cyst =:I and
cystic Wharton jelly
There were multiple other
=
anomalies including an
omphalocele, which is a
common associated finding
with omphalomesenteric
duct cyst.
Cystic Wharton Jelly

fLeft) Color doppler
ultrasound shows flow in the
umbifical vessels that are
encased in thickened
Wharton jelly. There are tiny
cystic areas =:I indicating
mucoid degeneration.
ultrasound shows a
bowel-only omphalocele III
associated with mucoid
jelly=-
degeneration of Wharton
Amniocentesis was
normal. After clinical
evaluation, the infant was
diagnosed with
Beckwith-Wiedemann
syndrome.
9
28
ABNORMAL UMBILICAL CORD
"
iii
n
-
CD
~
III
lID
c:
Omphalocele (Mimic) Physiologic Cut Herniation (Mimic) 3
(Left) Axial ultrasound in the 2:
second trimester shows a
c'i"
bowel-only III omphalocele !!!.
in the base of the cord BI. In o
this case chromosomes were o
normal, and surgical repair a.
was relatively simple. (Right)
Axial color Doppler
ultrasound in the first
herniation of bowel =
trimester shows physiological
into
the base of the cord Eill This
normal embryological
process should not be
mistaken for an omphalocele
or cord mass.
Cord Knot Cord Knot

cord loops =
shows several inseparable
between
monoamniotic twins. The
orientation of the loops did
not change during the scan
concerning for
entanglement. (Right) Color
fetuses.
=
same case shows flow in all
cord loops and both
indicating no
evidence of compromise
secondary to cord
entanglement allhis lime.
Cord Knot Cord Knot

pregnancy three weeks later
edema III and
shows skin
overlapping skull bones=.
indicating the demise of twin
B. Cord entanglement can
result in demise of one or
both twins. (Right) Pulsed
same case shows normal
umbilical arterial and venous
flow to twin A despite the
cord knot. In this case twin A
suffered no apparent adverse
consequences of co-twin
demise and was delivered
close to term.
9
29
'E ABNORMAL UMBILICAL CORD
o
o
jij
.~
..c
E Cord Knot Cord Knot
::l
(Left) Cross pathology shows
-
all
III cord entanglement in
c: monoamniotic twins. Note
GI the close proximity of the
U
III
CL =
placental cord insertion sites
ultrasound shows an
apparent cord knot 11:I close
to the abdominal waif
insertion site in a singleton
pregnancy. There were no
other findings. This was a
false knot due to kinked
vessels rather than a true
knot
Short Cord Short Cord

ultrasound shows a short
segment of cord 11:I at the
placental insertion site. A
fixed position lower
extremity. is a/50 seen.
(Right) Sagillal oblique
the same case (at 1S weeks
gestation) shows extensive
edema of the IOrso 11:I. Note
"pike" position =
that the fetus is in a fixed
movement was observed

No
during the examination

indicating fetal akinesia
sequence and shorl umbilical
cord.

a short cord~ with
diminished coiling from a
dizygotic twin with fetal
akinesia sequence. The cord
measured 38 cm in length.
The other fetus was normal.
(Right) Cross pathology in
abnormal extremity posturing
in the twin who died
immediately after delivery.
There were fixed flexion
deformilies of the hips and
knees, camplOdactyly ~ of
the fingers. and rocker
bOllom feet ffi
9
30
ABNORMAL UMBILICAL CORD 'tI
iii
n
..
CD
:l
III
Qo
Abnormal Cord Coiling Abnormal Cord Coiling

c:
3
ultrasound shows
2:
hypercoiled cord with
o'
normal venous flow.
e!-
n
Amniotic fluid volume and
cord Doppler were normal,
..•
o
Co
as was the infant at birth.
(Right) Ultrasound of a third
trimester fetus with a two
vessel cord IIlllI shows
diminished cord coiling ••.
Fetal movement and growth
were normal in this case.
Cord Hematoma Cord Thrombosis

"raggecr, amorphous
material III surrounding the
cord vessels 1IlllI. The patient
had severe vaginal bleeding
and had an emergency
C-section for abruption. This
is clot adherent to the
surface of the cord. (Right)
Gross pathology shows an
amniotic band" wrapped
tightly around the cord,
result;ng in thrombosis and
fetal demise. This was
particularly unfortunate as
the only fetal anomaly
involved the fingers of one
hand.
Cord Thrombosis Cord Thrombosis

ultrasound shows thrombosis
of one umbilical arlery 1IlllI.
This was the pump twin in a
TRAP pregnancy treated
with radiofrequency
ablation. Cord thrombosis is
not a generally recognized
complication. (Right) Pulsed
Doppler ullIasound in the
same case shows normal
umbilical vein flow. The fetus
was normally grown and
active; therefore no
intervention occurred.
Delivery was close to term
with no adverse
consequences detected.
9
31
•..o
'0 ABNORMAL UMBILICAL VESSELS
(J
l'lI
,g DIFFERENTIAL DIAGNOSIS o Asymmetry in size of umbilical arteries
:c o One artery smaller than the other adjacent
E Common to bladder
~ • Single Umbilical Artery
oI.l • Velamentous Cord
.l! • Hypoplastic Umbilical Artery o Submembranous cord insertion (i.e.,
c • Velamentous Cord
Ql umbilical cord inserts onto membranes not
U
l'lI
less Common placental disc)
ii: o Often adjacent to placenta
• Persistent Right Umbilical Vein
• Fused Umbilical Cords o Cord vessels are dilated due to lack of
• Conjoined Twins support from surrounding tissue

• Twin Reversed Arterial Perfusion o Submembranous vessels are extremely
fragile
Rare but Important o Associated with succenturiate lobe of
• Body Stalk Anomaly placenta, placenta previa, twin gestations
• Umbilical Cord Aneurysms o Vasa previa: Submembranous fetal vessels
o Umbilical Vein Varix cross cervical os
o Umbilical Artery Aneurysm • If membranes rupture fetus can
exsanguinate
ESSENTIAL INFORMATION • 60-80% fetal mortality if diagnosis
missed
• Cord assessment is an important part of all Helpful Clues for less Common Diagnoses
obstetric scans • Persistent Right Umbilical Vein
o Look at abdominal cord insertion site o Associated with SUA in most cases
o Look at placental cord insertion site o May be either intrahepatic or extrahepatic
o Evaluate cord structure o Intrahepatic: UV passes to right (lateral) of

• How many vessels are there? gallbladder (GB) curving toward stomach
• Is the cord length normal? • GB medially displaced
• Is there an appropriate amount of "twist" • GB transversely oriented
to the vessels? • UV fuses with left portal vein
o Follow umbilical vein o Extrahepatic: UV bypasses liver and portal
• Normal course of umbilical vein (UY) is system running anterior to liver
to enter left lobe of liver medial to • Drains into systemic veins
gallbladder • Associated with aneuploidy
• UV connects with left portal vein (LPV) • Associated with multiple anomalies
• LPV connects with inferior vena cava via • Fused Umbilical Cords
ductus venosus o Abnormal number of cord vessels in excess
of the usual 3
Helpful Clues for Common Diagnoses • Most commonly seen with conjoined
• Single Umbilical Artery twins
o Seen best on free loop of cord cross-section
• Described in monoamniotic twins where
o Only 1 artery adjacent to fetal bladder cords fuse proximal to placental
o Single umbilical artery (SUA)is larger than
insertion site
normal UA (i.e., in a 3-vessel cord) o Differentiate from cord knot in
• Carries twice the blood volume monoamniotic twins
o 15% develop intrauterine growth
• Cord vessels appear to "branch" within
restriction (lUGR) the knot
o Look for additional fetal anomalies
• In fused cords, the vessels are tubular
• 50% risk of aneuploidy if other with the usual helical twist but no
anomalies in addition to SUA entanglement
• Hypoplastic Umbilical Artery • Fetuses may lie close to each other but
o Within spectrum of SUA do not have contiguous skin covering
9
32
ABNORMAL UMBILICAL VESSELS "'ll
iii
n
• Conjoined Twins
o Monochorionic twin gestation
• Focal dilatation of UV > 9 mm diameter
or varix diameter 50% > intrahepatic
-
CII
j
III
llD
c::
o Contiguous skin covering between fetuses portion of UV 3
o Variable cord vascular anomalies described • Cyst-like space in upper abdomen with 2:
o Most common is fused cord with 6 vessels venous flow on Doppler n"
!!!.
(2 arteries and 1 vein from each fetus) • Rarely seen in free-floating loops of cord (")
• Twin Reversed Arterial Perfusion • Evaluate with color and spectral Doppler o
~
Co
o Monochorionic twin gestation • Increasing turbulence on spectral or
o Pump twin structurally normal incomplete filling on color concerning
o "Acardiac" twin dysmorphic with extensive for thrombus
soft tissue edema • Associated with increased venous
o Single umbilical artery in 66% of acardiac pressure and hydrops
twins o Umbilical Artery Aneurysm
o Hallmark of diagnosis is abnormal • Saccular dilatation of umbilical artery
direction of flow in UA • Usually near placental end of cord
• Normal UA flow is toward placenta, away • Spectral Doppler shows arterial waveform
from fetus • May have arteriovenous fistula to
• In TRAP sequence UA flow is away from umbilical vein
placenta, into anomalous fetus • Look for associated anomalies (associated
Helpful Clues for Rare Diagnoses with trisomy 18)
• Body Stalk Anomaly Other Essential Information
o Absent or very short umbilical cord • SUA may be an incidental finding but may
• Vessels seen running between placental be associated with multiple anomalies
surface and fetal torso o Careful fetal assessment required for
o Large thoraco-abdominal wall defect structural malformation
without covering membrane o If additional malformations seen, risk of
o Scoliosis is a prominent feature aneuploidy up to 50%
o Fixed fetal/placental relationship essential o Even if no other findings fetus at risk for
for this diagnosis IUGR
• Umbilical Cord Aneurysms • Follow up growth in 3rd trimester
o Umbilical Vein Varix o Consider Doppler studies of cord vessels
• Increased systolic to diastolic ratio
associated with increased risk of IUGR
Single Umbilical Artery Single Umbilical Artery
Ultrasound shows only 2 vessels in the free-floating

loops of the cord. The larger vessel is the UV lilt and
Ultrasound. with clinical correlation. shows a 2-vessel
cord with a single umbilical artery lID wrapping around
9
the smaller is the UA lID. The fetus was otherwise the veinal
normal.
33
•..
't:l
o
ABNORMAL UMBILICAL VESSELS
(,)
CIl
.!:!
.c
E Hypoplastic Umbilical Artery
::::l
all (Left) Axial color Doppler
•..c:
CIl ultrasound at the fetal
bladder shows asymmetric
Gl size of the umbilical arteries
U
.!!!
ll.
=. Three vessels were
present in the cord, with one
artery significantly smaller
than the other. (Right) Axial
oblique color Doppler
ultrasound shows 2 umbilical
arteries adjacent to the
bladder 1m. The left = is
smaller than the right (Sp =
spine). The left artery is more
often hypoplastic or absent
than the right
Velamentous Cord Velamentous Cord

(Left) Sagillal color Doppler
ultrasound shows cord
vessels Illllthat insert on the
membranes
the cervix =
and run across
to the placenta
Vasa previa was
confirmed by transvaginal
scans. (Right) Gross
pathology shows a
velamentous
=
cord insertion
with umbilical vessels
running along the
membranes before entering
the placenta disc Illll.
Persistent Right Umbilical Vein

Axial oblique power
(Left)
Doppler uluasound shows a
=-
persistent right umbilical vein
The gallbladder HI is
located to the left of the
umbilical vein and is
displaced medially. No other
anomalies were detected.
shows the characteristic
curve of a persistent right
umbilical vein. As it enters
the abdomen and fuses with
the left portal vein it forms a
curve Ell apex to the right,
stomach =
convex away from the
(spine 111I.
9
34
ABNORMAL UMBILICAL VESSElS
Fused Umbilical Cords Fused Umbilical Cords

(Left) Ultrasound in a case of
omphalopagus conjoined
twins shows 2 placental cord
insertion sites ilia quite close (')
to each other. (Right) ..,
o
Ultrasound of a free floating Q.
loop in the same case shows

fusion of the cords to form a
veins =
single 6-vessel cord with 2
and 4 arteries HI.
Fused Umbilical Cords Fused Umbilical Cords

shows that the vessels
branch immediately after
insertion onto an
omphalocele, extending into
both abdomens (A, B). Both
twins had normal portal
veins, but there was only one
gallbladder and common
bile duct. (Right) Cross
pathology in a different case
of omphalopagus conjoined
twins shows the cord
insertion with as-vessel
fused cord (3 arteries, 2
veins) inserting on the apex
of an ompha/ocele.

(Left) Axial oblique color
an unusual large vesse/lll!l
traversing the livers of
conjoined twins, both of
whom have ascites =.
(Right) Sagittal T2WI MR in
same large vessel.
thought to be an abnormal
ductus venosus, shunting
placental return (via an
anomalous umbilical vein)
from the anterior twin ~ to
the posterior twin
Hydrops with skin edema HI
and ascites 1m is evident
9
35
•..
'g
o
ABNORMAL UMBILICAL VESSELS
o
IV
.2
:c
E Twin Reversed Arterial Perfusion Twin Reversed Arterial Perfusion
~
(Left) Ultrasound at 16
-
all
IV weeks shows the normal
C pump twin's abdominal cord
GI insertion site lEI. Note the
U
IV grossly edematous acardiac
ii: twin Ill. (Right) Color
the abnormal fetus with few
recognizable structures,
although there were 2
flipper-like lower extremities
Ill. Umbilical cord III flow
is present.

ultrasound shows a shunt
vesse/llll on the placental
surface. extending from the
pump twin's cord insertion
site III toward the
anomalous twin's cord
insertion. (Right) Pulsed
normal UA flow lEI from the
pump twin entering the
placenta (i.e., away from
the fetus). Contrast this with
the reversed flow in the UA
&:I of the acardiac twin (i.e_,
away from the placenta,
toward the anomalous fetus
1lIlJ.

(Left) Gross pa thology shows
the shunt vesselllll
extending from the pump
twin's cord IIlI to the
acardiac twin's cord The
acardiac twin was small, but
cord entanglement resulted
;n pump twin demise (note
the dark thrombosed cord
vessels 1IlIJ. (Right) Gross
pathology from a different
case, treated with
radiofrequency ablation,
shows the post-treatment
defect in the acardiac
twin. This treatment
obliterates the shunt and
prevents cord entanglement.
9
36
ABNORMAL UMBILICAL VESSElS "ll
iii
o
ell
::::l
••
III
$lO
C
Body Stalk Anomaly Body Stalk Anomaly 3
(Left) Ultrasound shows that !2:
the umbilical vessels IIlI run c;"
directly from the fetus (F) !.
into the placenta (P), as o
there ;s no normal cord
formed in this condition,
..•
o
D.
shows the typical findings m
body stalk anomaly. The
peritoneal cavity ~ is in
continuity with the amnion
and the fetus was
adherent to the placenta [;8
There is no normal cord
insertion site, and the liver
IIlI and bowel. are
extruded.
Umbilical Vein Varix Umbilical Vein Varix

the typical appearance of an
umbilical vein varix =
as an
apparently cystic structure in
the abdomen. (Right) Axial
the same case shows blood
swirling in the varix. Note
that color fills the entire
varix. Lack of complete filling
is concerning for peripheral
thrombus.
Umbilical Artery Aneurysm Umbilical Artery Aneurysm

ultrasound shows vascular
spaces IIlI adjacent to the
placental cord insertion sile.
Note the arterial waveform
IIlI. (Right) Cross pathology
confirms 2 umbilical artery
aneurysms IIlI and a single
umbilical artery ffi The
fetus had multiple other
anomalies, and
amniocentesis revealed
trisomy lB.
9
37
SECTION 1 0
Fl u id
o l igoh ydra m n ios 1 0-2
Polyhydramn ios 1 0-6
Echogenic A m n iotic Fluid 1 0- 1 0
Linear Echoes in A m n iotic F l u i d 1 0- 1 2
OLIGOHYDRAMNIOS
DIFFERENTIAL DIAGNOSIS • t Uterine artery resistance

• * Middle cerebral artery resistance
Common • Renal Agenesis
• Preterm Premature Rupture of Membranes o Ultrasound findings
(PPROM) • Anhydramnios (no fluid)
• Intrauterine Growth Restriction (IUGR) • Absent kidneys and bladder
• Bilateral Renal Anomaly -. No renal arteries (color Doppler)
o Renal Agenesis • Clubfeet, other joint contractures
o Ureteropelvic Junction Obstruction (UP]) o Pitfalls
o Multicystic Dysplastic Kidney (MCDK) • May have normal fluid early « 17 weeks)
o Autosomal Recessive Polycystic Kidney • Bladder secretions may mimic urine
Disease • Adrenal gland may mimic kidney
• Bladder Outlet Obstruction • Bowel in renal fossa may mimic kidney
o Posterior Urethral Valves o Fatal prognosis
o Urethral Atresia • Pulmonary hypoplasia
Less Common • Ureteropelvic Junction Obstruction (UPJ)
• Twin-Twin Transfusion Syndrome o Ultrasound findings
• t Renal pelvis is hallmark finding
Rare but Important
• Renal pelvis" 7 mm after 33 weeks
• Prune Belly Syndrome • Associated caliectasis
• No distended ureter or bladder
ESSENTIAL INFORMATION o Evaluate contralateral kidney
• Bilateral UPJ in 10%
Key Differential Diagnosis Issues • UPJ + contralateral renal anomaly in 25%
• Diagnosis of oligohydramnios o Prognosis
o Subjective • Depends on severity of obstruction
• * Pockets of fluid • Early oligohydramnios => pulmonary
• Fetus:fluid ratio> 1:1 hypoplasia
o Objective
• Post-obstructive cystic dysplasia
• Maximum vertical pocket is * 2 cm • Multicystic Dysplastic Kidney (MCDK)
• Amniotic fluid index < 5 cm o Renal tissue replaced by cysts
Helpful Clues for Common Diagnoses o Ultrasound findings
• Preterm Premature Rupture of Membranes • Multiple variable-sized cysts
(PPROM) • Kidney may lose reniform shape
o Clinical diagnosis • t Renal size initially, then *
o Etiology • Severe oligohydramnios if bilateral
• Spontaneous o 20% of MCDK are bilateral
• Infection (anhydramnios)
• Post-amniocentesis o 40% have contralateral renal anomaly
o Worse prognosis if PPROM early or o Poor prognosis if bilateral anomalies
prolonged • Autosomal Recessive Polycystic Kidney
• Early: PPROM < 25 weeks Disease
• Prolonged: PPROM > 14 days o Single gene disorder
• Intrauterine Growth Restriction (IUGR) • Distal tubule/collecting duct dilatation
o Estimated fetal weight < 10th percentile o Ultrasound findings
o Oligohydramnios often earliest finding • Enlarging echogenic kidneys
o Causes • Majority detected> 24 weeks
• Placental insufficiency • Macrocysts rarely seen
• Fetal aneuploidy/syndrome • Variable oligohydramnios
o Doppler assessment o Perinatal, neonatal, infantile and juvenile
• t Umbilical artery resistance presentations
10
2
OLIGOHYDRAMNIOS
• Perinatal form with 30-50% mortality • Associated cryptorchidism

• Severe oligohydramnios '* pulmonary o Gross dilatation of collecting system is
hypoplasia hallmark finding
• Hepatic fibrosis (rarely in utero) • Large, thin-walled bladder
• Posterior Urethral Valves • Bilateral hydroureter
o Partial or complete obstruction • Bilateral hydronephrosis
o "Keyhole" appearance o Variable oligohydramnios
• t Bladder + t posterior urethra o Difficult to differentiate from posterior
o Variable hydronephrosis/hydroureter urethral valves
• ± Post-obstructive renal cystic dysplasia • No "keyhole" bladder with prune belly
o Spontaneous decompression may occur • Entire urethra may be dilated
• Bladder rupture '* urinary ascites Other Essential Information
• Renal fornix rupture '* urinoma • Worsening oligohydramnios '* worse
o In-utero treatment if severe
prognosis
oligohydramnios o Associated with fetal acidosis and death
• Serial bladder drainage o Further fetal assessment indicated
• Vesicoamniotic shunt • Fetal growth and Doppler
o In female fetuses, consider urethral atresia
• Nonstress test
Helpful Clues for less Common Diagnoses • Biophysical profile
• Twin-Twin Transfusion Syndrome • Reassess fetal anatomy carefully
o Complication of monochorionic twinning • Biophysical profile fluid assessment
• Artery to vein anastomosis in placenta o Score of 0 or 2 for fluid
• Donor twin partly perfuses recipient twin • 2 = at least 1 pocket of fluid measures ~ 2
o Donor twin with oligohydramnios x2cm
• "Stuck" twin if severe • 0 = no fluid pocket measures> 2 x 2 cm
• lUGR o BPP not same as amniotic fluid index
• t Resistive flow in umbilical artery • Can have BPP score of 2 for fluid and still
o Recipient twin with polyhydramnios have oligohydramnios
• Larger twin • Pay close attention to contralateral kidney
Helpful Clues for Rare Diagnoses when renal anomaly seen
o Bilateral/contralateral anomalies common
• Prune Belly Syndrome
o Unilateral renal anomaly usually not
o Deficient abdominal musculature '*
collecting system dilatation associated with oligohydramnios
Preterm Premature Rupture of Preterm Premature Rupture of

Membranes (PPROM) Membranes (PPROM)
Axial ultrasound of a 22 week pregnancy shows severe

oligohydramnios. The presence of fluid in the fetal
Axial ultrasound of a pregnancy with PPROM after
amniocentesis shaws lhe amnion • displaced away
10
bladder HI rules out renal agenesis. PPROM was from the uterine wall. The presence of fluid on both
suspected clinically. sides of the amnion is from a defect in the membrane.
3
OLIGOHYDRAMNIOS
Intrauterine Growth Restriction (IUGR) Intrauterine Growth Restriction (IUGR)

(Left) Four quadrant US
shows no measurable
pocke15 of fluid in a
hypertension and IUCR. All
the hypoechoic "pocke15"
contain umbilical cord 1:1:I.
(RighI) Sagittal pulsed
left uterine artery in the same
case shows high resistive
flow and a post-systolic
notch EE This is abnormal
in the third trimester and is
highly suggestive of placental
insufficiency. The 28 week
fetus was delivered
immediately.
Renal Agenesis Renal Agenesis

ultrasound of the aorta 1:1:I
shows absent renal arteries.
There was no amniotic fluid
(anhydramnios), and the
bladder was empty. (Right)
Axial ultrasound through the
fetal abdomen in a different
case shows bowel 1:1:I in the
renal fossa. Fetal bowel and
adrenal glands can mimic
kidneys.
Ureteropelvic Junction Obstruction

(UPJ) Multicystic Dysplastic Kidney (MCDK)
a massively distended renal
pelvis IIIIl and compressed
renal tissue Ea. There was
no amniotic fluid
surrounding the fetus, and
therefore a contralateral
renal anomaly was
suspected. (Right) Axial
shows that the contralateral
kidney is small and cystic
III In this case, both
kidneys lost their normal
reniform shape. The neonate
had severe pulmonary
hypoplasia and died.
10
4
OLIGOHYDRAMNIOS "Tl
c:
Q.

Disease Posterior Urethral Valves
shows bilateral enlarged
echogenic kidneys lEI and a
small bell-shaped chest Ea.
There is no amniotic fluid in
this case, but ARPKD can
have variable degrees of
oligohydramnios depending
on the severity of renal
disease. (Right) Sagittal
ultrasound of a fetus with
posterior urethral valves
shows a massively distended
fetal bladder lEI and severe
oligohydramnios. Posterior
urethral valves can be
partially or completely
ob tructive.

a "stuck" twin III A very
small pocket of fluid
surrounds the fetus
the membranes
= and
entrap it
along the uterine wall. The
other twin is surrounded by
excessive fluid 81. (Right)
Axial ultrasound of another
pregnancy shows a thin
separating membrane lEI
with a small pocket of fluid
around the small, donor twin
81. There is polyhydramnios
in the sac of the the larger,
recipient twin 111

severe bladder distention 81
and bilateral hydronephrosis
lEI. Although decreased,
amniotic fluid is present •.
Since bladder outlet
obstruction was suspected,
vesicocentesis was
performed in this case.
the same fetus after
vesicocentesis shows a
markedly redundant and lax
abdominal wall_ more
consistent with the diagnosis
of prune belly syndrome
than bladder outlet
obstruction.
10
5
POLYHYDRAMNIOS
DIFFERENTIAL DIAGNOSIS • Diabetes

o Gestational diabetes (most common)
Common • Glucose intolerance during pregnancy
• Idiopathic • Oral glucose tolerance test given between
• Macrosomia 24-28 wks
• Diabetes o Pregestational diabetes (type 1 or 2)
• Hydrops o Polyhydramnios associated with poor
• Twin-Twin Transfusion Syndrome glucose control
• Fetal Bowel Obstruction • May be first finding in pregnancy
Less Common • Associated with macrosomia
• Arthrogryposis, Akinesia Sequence • Hydrops
• Skeletal Dysplasia, Severe o Excessive fetal fluid accumulation (2 or
• Chorioangioma more body cavities)
• Cystic Adenomatoid Malformation • Anasarca
• Pleural effusion (± pericardial)
Rare but Important
• Ascites
• Mesoblastic Nephroma o Amniotic fluid may be t or ~
• Unilateral Ureteropelvic Junction o Immune hydrops (10%)
Obstruction • Hemolytic disease '* fetal anemia
o Non-immune (90%)
ESSENTIAL INFORMATION • Infection
• Any cause of fetal anemia
Key Differential Diagnosis Issues • Any cause of fetal heart failure
• Amniotic fluid index (AFI) • Lymphatic obstruction
o Divide uterus into 4 equal quadrants o Aneuploidy associations
o Measure maximum vertical pocket (MVP)
• Turner syndrome (cystic hygroma)
• Avoid fetal parts/cord in MVP • Trisomy 21
o Add the 4 MVPs to calculate AFI
• Trisomy 18
o AFI/gestational age normogram tables • Twin-Twin Transfusion Syndrome
available o Monochorionic twinning
• > 24 cm AFI = polyhydramnios • Artery-to-vein anastomoses in shared
• Twin fluid assessment placenta
o Measure MVP for each fetus
• Donor twin partly perfuses recipient twin
o ~ 8 cm = polyhydramnios o Fluid discrepancy may be 1st sign of
Helpful Clues for Common Diagnoses developing twin-twin transfusion
• Idiopathic syndrome (need to follow carefully)
o Most common cause (2/3) o Recipient twin with polyhydramnios
• Mild, stable finding • Larger twin
o Normal patient and fetus o Donor twin with oligohydramnios
• No diabetes or fetal anomalies • Smaller "stuck" twin
o 28% with fetal macrosomia • Fetal Bowel Obstruction
• Macrosomia o Late polyhydramnios (> 24 wks)
o Estimated fetal weight> 90th percentile o Esophageal atresia
o Large abdominal circumference is a • Absent or small stomach
hallmark finding • 1/3 with trisomy 18 or 21
• t Truncal echogenic fat • Associated with VACTERLsyndrome
o Causes o Duodenal atresia
• Hereditary characteristics • "Double-bubble" appearance
• Maternal obesity • 1/3 with trisomy 21
• Diabetes o Jejunal, ileal atresia
• Beckwith-Wiedemann syndrome • "Sausage-shaped" bowel loops
10
6
POLYHYDRAMNIOS
o Microcystic and macrocystic types

o Polyhydramnios etiology
• Arthrogryposis, Akinesia Sequence
o Heterogeneous group of disorders
• Esophagus compression
• Associated with hydrops
• Lack of extremity motion
• Mass may make fluid
• Contractures
o Polyhydramnios from ~ fetal Helpful Clues for Rare Diagnoses
movement/swallowing • Mesoblastic Nephroma
o Associations o Benign solid mesenchymal tumor
• Trisomy 18 o 70% with polyhydramnios
• Autosomal dominant and recessive • Often progressive and severe
syndromes o Proposed etiologies for polyhydramnios
• Skeletal Dysplasia, Severe • Hypercalcemia ~ polyuria
o Common dysplasias • Renal hyperemia ~ t urine output
• Thanatophoric • Bowel obstruction (large mass)
• Achondroplasia • Unilateral Ureteropelvic Junction
• Achondrogenesis Obstruction
• Osteogenesis imperfecta o Dilated renal pelvis is hallmark finding
o Common skeletal findings • Distention ends abruptly at UP]
• Short limbs • Normal ureters and bladder
• Poor ossification o Polyhydramnios in 1/3 of cases
• Bowed or broken bones • Apparent paradox that obstruction
• Craniosynostosis would lead to polyhydramnios but
o Polyhydramnios common in 3rd trimester etiology thought to be from impaired
• Chorioangioma renal concentrating ability which causes
o Benign, vascular placental tumor t urine output
o Large masses (> 5 em): t Complications o Contralateral renal anomaly in 25%
o Polyhydramnios • ~ Fluid if severe
• Transudate from leaky vessels Other Essential Information
o Hydrops
• Amniocentesis for polyhydramnios
• Arteriovenous shunting in mass o Not indicated if idiopathic etiology
• Fetal anemia from hemolysis o Polyhydramnios + growth restriction has t
• Cystic Adenomatoid Malformation risk for aneuploidy/syndromes
o Lung hamartoma
• Trisomy 18 most common
Macrosomia Diabetes
Axial ullrasound shows moderate polyhydramnios. The

four quadrant fluid measurement is 38.9 em. fetal
Axial ullrasound shows polyhydramnios lllIl in a
pregnancy complicated by uncontrolled diabetes. There
10
anatomic survey was normal, however the fetus was was also fetal macrosomia (excessive subcutaneous
large for gestational age (macrosomia). truncal fat alii.
7
:2::::s POLYHYDRAMNIOS
LL
Hydrops Hydrops
maternal Rh sensitization
shows features of hydrops
fetalis. There is
polyhydramnios 11II:I and skin
edema, particularly involving
the scalp HI. Pleural
effusions lEI are also present.
and placenta in the same
case shows placentomegaly
III anasarca III and ascites
HI. Polyhydramnios is more
often associated with
immune hydrops than
non·immune.

a large amount of fluid
surrounding fetus A
(calipers) and a barely
visible thin separating
membrane 11II:I between the
monochorionic twins. (Right)
Another image of the same
case shows calipers
measuring the largest pocket
of fluid surrounding twin B.
The severe polyhydramnios
11II:I associated with twin A is
again seen. Twin B is the
"stuck" donor twin with
oligohydramnios. Twin A is
the recipient twin with
polyhydramnios.
Fetal Bowel Obstruction Fetal Bowel Obstruction

abdomen in a fetus with
esophageal atresia shows
polyhydramnios lEI and lack
of a fluid-filled fetal stomach
(fetal spine BI). (Right) Axial
ultrasound of the abdomen
in a different fetus shows a
"double bubble' Hlthe
classic appearance of
duodenal atresia. There is
associated polyhydramnios
11II:I.Both esophageal atresia
and duodenal atresia are
associated with aneuploidy.
10
8
POLYHYDRAMNIOS
Arthrogryposis, Akinesia Sequence Skeletal Dysplasia, Severe

shows severe
polyhydramnios !llilI and a
gravity dependent fetus •.
The fetus lay motionless in
the posterior uterus
throughout the exam. (Right)
Axial ultrasound of a fetus
with thanalophoric dysplasia
type II shows
polyhydramnios !llilI and very
extremities =-
short "flipper-like" upper
All the long
bones were severely
shortened and the skull had
a "clover-leaf" morphology.
Chorioangioma
a large chorioangioma •
extending from the anterior
surface of the placenta Ell.
Although rare, large
chorioangiomas are
associated with
polyhydramnios and hydrops
fetalis. (Right) Axial
ultrasound shows a
unilocular medial cystic
chest mass III which is
causing mass effect upon the
aorta !llilI. Polyhydramnios
can occur from esophageal
compression or hydrops.
Unilateral Ureteropelvic Junction

Mesoblastic Nephroma Obstruction
renal mass =-
a large, predominantly solid,
The
contralateral kidney and
bladder were normal. There
was severe polyhydramnios
necessitating therapeutic
amniocentesis. (Right) Axial
ultrasound shows a
pelvis=-
massively distended renal
The pregnancy
was also complicated by
mild polyhydramnios.
Unilateral renal anomalies
are sometimes associated
with polyhydramnios
secondary to impaired renal
concentrating ability.
10
9
ECHOGENIC AMNIOTIC FLUID
DIFFERENTIAL DIAGNOSIS • May see clot adherent to cord or fetus

o Clot decreases in echogenicity as it ages -
Common linear echo from chorion with amniotic
• Normal Variant, Third Trimester fluid on one side, old hypoechoic clot on
• Placental Abruption other side
• Bowel Anomalies • Jejunal, Ileal Atresia
o Jejunal, Ileal Atresia o Fetal regurgitation secondary to small
o Gastroschisis bowel obstruction
less Common o Multiple dilated loops of bowel within
• Exencephaly, Anencephaly abdomen
• Umbilical Vessel Disruption • Gastroschisis
o Non membrane-bound abdominal wall
defect
ESSENTIAL INFORMATION o Cord inserted adjacent to defect
Key Differential Diagnosis Issues o Bowel loops float freely in amniotic fluid
• Echoes in amniotic fluid may be normal, o Meconium stained fluid typical at delivery
particularly with high resolution transducers of gastroschisis infants
• Look for anomalies, especially of Helpful Clues for less Common Diagnoses
gastrointestinal tract • Exencephaly, Anencephaly
• Ask about vaginal bleeding o Skull vault bones absent
o 50% of abruption cases have no o Proptotic orbits create "frog eye"
sonographic findings acutely appearance
• Ask about previous procedures o Trauma to exposed brain results in
o Patient may be asymptomatic despite fragmentation
intraamniotic, subchorionic bleeding o Look for linear amniotic bands as etiology
secondary to intrauterine procedure • Umbilical Vessel Disruption
Helpful Clues for Common Diagnoses o Umbilical vessel bleeds into amniotic fluid
• Normal Variant, 3rd Trimester o Risk factors include intrauterine
o Vernix may layer over cervix procedures, rupture of varix in free loops
• Placental Abruption Other Essential Information
o Initial subchorionic bleed - small breach • Check fetal cardiac activity and look for
in membranes - blood mixes with bleeding at the end of every invasive
amniotic fluid - diffuse t echogenicity procedure
Normal Variant, Third Trimester Placental Abruption
10 Coronal ultrasound shows diffuse low-level echoes in

the amniotic fluid around the nose Ill! and lips ., of
Ultrasound shows hypoechoic blood Illil adjacent to
the placenta lilting the membranes Illil off the uterine
this normal third trimester fetus. wall to create linear echoes in the fluid, as well as
creating intermediate echoes in the subacute clot.
10
ECHOGENIC AMNIOTIC FLUID
Jejunal, Ileal Atresia

polyhydramnios (calipers)
with echogenic debris in the
amniotic fluid. Multiple loops
of distended fluid-filled
bowel were seen as well as a
rrtriple bubble sign" created
by distended stomach,
duodenum and jejunum.
(Right) Intra-operative
photograph in a similar
infant shows the very dilated
proximal jejunum IIlII
terminating at a fibrous cord
III. The mesentery E!lI is
intact.
multiple mildly dilated,
thick-walled loops of
externalized bowel in a fetus
with gastroschisis. (Right)
Another image in the same
fetus shows marked increase
in echogenicity of the
amniotic fluid with a lot of
suspended particulate
material. The fetus had
intrauterine growth
restriction and poor
biophysical scores, which
precipitated early delivery.
There was severe meconium
staining of the amniotic fluid
at birth.
Exencephaly, Anencephaly Umbilical Vessel Disruption

(Left) Ultrasound in a fetus
with exencephaly due to
amniotic band syndrome
shows amorphous residual
brain tissue 11II above the
orbital ridge 1IlII. The fluid is
echogenic & there is layering
debris E!lI within the
amniotic cavity. (Right)
Ultrasound shows new
development of highly
echogenic fluid III &
polyhydramnios. Biophysical
score was zero. The infant
was delivered alive by
emergency c-seclion & was
found to have a ruptured UV
varix in free loops of cord.
10
11
LINEAR ECHOES IN AMNIOTIC FLUID
DIFFERENTIAL DIAGNOSIS o Color Doppler may demonstrate flow

within synechiae
Common o In first trimester may cause distortion of
• Synechiae gestational sac shape
• Dichorionic Diamniotic Twins o May no longer be visible in 3rd trimester
• Monochorionic Diamniotic Twins due to rupture or compression
• Chorioamniotic Separation • Dichorionic Diamniotic Twins
• Placental Abruption, Old o Thick echogenic chorion completely
• Uterine Septum surrounds each embryo
• Placental Cysts o "Twin peak" sign: Wedge of chorionic
Less Common tissue extending into base of inter-twin
• Amniotic Band Syndrome membrane
• Circumvallate Placenta o Two fetuses in separate chorionic sacs
• Two amniotic sacs with two yolk sacs
o Dichorionic membrane actually separates
ESSENTIAL INFORMATION two amniotic cavities (i.e., extra-amniotic)
Key Differential Diagnosis Issues • Monochorionic Diamniotic Twins
• Single or multiple gestation? o Two fetuses in single chorionic sac
o If multiple, inter-twin membrane is most containing two amniotic sacs
likely cause of a linear echo in the o Thin inter-twin membrane formed by two
amniotic fluid layers of amnion without interposed
• Does linear echo cross cavity from side to chorion
side? o No "twin peak"
o Placental edge to placental edge ...• o Twins must be same gender
circumvallate placenta • Chorioamniotic Separation
o Uterine wall to uterine wall ...•synechia o Persistent unfused amnion and chorion>
• Does linear echo parallel wall of uterine 16 wks
cavity? o Amniotic membrane separate from uterine
• How do linear echoes relate to placenta? wall
• How do linear echoes relate to fetus? • Complete: Attached only at placental
• Is there a history of intervention? cord insertion site
o Prior uterine instrumentation • Incomplete: Unattached around part of
• D&C, myomectomy, metroplasty the uterine cavity, the commonest form
o Procedure performed during current o May be primary non-fusion
pregnancy? • Look for signs of aneuploidy
• Amniocentesis, amnioreduction, o May occur secondary to amniocentesis or
intrauterine transfusion, laser therapy or fetal intervention
radiofrequency ablation • Increases risk of membrane rupture in
twins ...•functional monoamniotic state
Helpful Clues for Common Diagnoses ...•t risk of cord entanglement
• Synechiae • Placental Abruption, Old
o Shelf or band-like structure which does not
o Hypoechoic blood clot near or behind
restrict fetal movement placenta
o Extra-amniotic: Fetal membranes wrap
o Marginal (most common), retroplacental
over synechiae or preplacental
o Straight, bulbous free edge with thinner
• Marginal: Bleed at edge of placental disc,
sheet extending to endometrial surface dissects between chorion and uterine
o V-shaped notch at endometrial base,
wall
created by membranes separating at
endometrial margin
o Placenta can abut or even wrap around
synechia
10
12
LINEAR ECHOES IN AMNIOTIC FLUID ."C
c:
• Retroplacental does not cause confusion o Creates two distinct endometrial cavities
for linear echoes in amniotic fluid as • Placental Cysts
located between placenta and o Chorionic cysts are simple cysts on fetal
myometrium placental surface
o Preplacental abruption is rare o Often near cord insertion site
• Hematoma on fetal surface of placenta o If multiple may appear to create linear
• Clot may compress cord if close to echoes in amniotic fluid
insertion site o Curvilinear shape and relationship to
o Subacute placenta indicate etiology
• May contain fluid-fluid level, septations o If large, or if hemorrhage occurs, may
common compress cord
o Old Helpful Clues for less Common Diagnoses
• Liquefying blood, eventually sonolucent • Amniotic Band Syndrome
and may mimic amniotic fluid o Entrapment of fetal parts by disrupted
o Hemorrhage can dissect under chorionic
amnion
membrane o Amniotic band in contact with deformity,
• Clot seen at a distance from placenta extends to uterine wall
• Look in front of cervical os o Bands in amniotic fluid appear as multiple
o Intraamniotic blood common - echogenic thin membranes
fluid - echogenic fetal bowel from o No flow in band on Doppler evaluation
swallowed blood • Circumvallate Placenta
o In twins, rarely, hematoma dissects o Placental margin elevated off uterine wall
between membranes o Scanning parallel to edge - "marginal
• When old may appear as fluid-filled mass shelf"
between membranes - increased linear o Scanning longitudinally - "curled lip" of
interfaces in amniotic fluid placental margin
• Uterine Septum
o Midline, arising from fundus Other Essential Information
• In first trimester use 3D to create coronal • Most linear echoes in amniotic fluid are of
images and confirm location, assess little clinical significance
fundal contour • Amniotic band syndrome can be lethal
o May be fibrous or composed of depending on extent of band-related
myometrium damage
o Thicker than synechiae
Synechiae Synechiae
Ultrasound shows linear echoes IIlII crossing the

amniotic cavity due to synechia. Note V-shaped base
Coronal T2WI MR shows a midlrimesler pregnancy in a
patient with synechiae m Felal parIS IIlII and cord HI
10
m=. The patient had a history of multiple D&C are seen in various compartments" and lhe placenta
I'
procedures for recurrenl abortions. ~ is partially implanted on the synechiae.

13
LINEAR ECHOES IN AMNIOTIC FLUID
Dichorionic Diamniotic Twins Dichorionic Diamniotic Twins

(Lefl) Ultrasound shows the
thick inter-twin membrane
11:I of a dichorionic twin
pregnancy in the first
trimester. The amniotic
cavities E!lI are completely
separate. (RighI) Ultrasound
shows how the membrane
III becomes thinner with
advancing gestational age.
These twins are dizygotic but
the membranes look thin
and there is no "twin peak"
=. The presence of two
fetuses makes inter-twin
membrane the most likely
cause for a linear struclUre in
the amniotic fluid.
Monochorionic Diamniotic Twins Chorioamniotic Separation

(Leh) T2WI MR shows the
thin membrane = in
monochorionic diamniotic
twins. (Right) Ultrasound
shows chorioamniotic
separation creating linear
echoes 11:I in the amniotic
fluid. This was a
complication of serial
amnioreduction in a case of
syndrome. Although the
membranes appeared
tangled around the fetal
extremities 11:I there were no
constriction defects at
delivery.
Placental Abruption, Old

(Leh) Color Doppler
ultrasound shows
myometrial vascularity III
without active flow into the
subacute abruption _
Elevation of the membranes
E!lI produces a linear
interface in the amniotic
fluid. (RighI) Ultrasound
shows a uterine septum.
creating two
"compartments" in the
uterus. The placenta III is
seen on one side of the
septum and the fetus E!lI on
the other. The fetus was
freely mobile.
10
14
LINEAR ECHOES IN AMNIOTIC flUID ."
C
c:
Placental Cysts Placental Cysts

(Left) Ultrasound shows two
of multiple curvilinear
echoes III in the amniotic
fluid. These are all arising
from the placental surface.
shows the placenta in the
same case. There are
multiple chorionic cysts III
some of which are
hemorrhagic Ill. Note the
central area of infarction HI
at the placental cord
insertion site. Delivery was
precipitated by abnormal
biophysical profile &
reversed end diastolic flow in
the umbilical artery.

abdominoschisis secondary
to amniotic bands =. Liver
BI and loops of bowel Ill.
are outside the abdominal
cavity. (Right) Clinical
shows a fine linear band III
wrapped around the fetal
arm. Isolated constriction
defects are not lethal, but
extensive abdominoschisis
and exencephaly are. The
bands themselves create fine
linear echoes within the
amniotic fluid.
Circumvallate Placenta Circumvallate Placenta

placental "shelf' III as the
edge of the placenta is lifted
off the uterine wall Ill. The
"shelf" looks like a band on
longitudinal views along the
edge of the placenta. The
band connects to the
placenta not the uterine wall,
differentiating it from a
synechia. (Right) Gross
pathology shows how the
membranes attach to the
fetal surface of the placenta
III instead of the edge Ill.
This curled edge creates a
"shelf-like" linear echo.
10
15
SIECTION 11
Growfh and Well Being
Intrauterine Growth Restriction 11-2
Macrosomia 11-8
Hydrops 11-10
Fetal Anemia 11-16
Abnormal Fetal Presentation 11-20
INTRAUTERINE GROWTH RESTRICTION
DIFFERENTIAL DIAGNOSIS • Biophysical profile (BPP)

• Placental Insufficiency • Placental Insufficiency
o Maternal causes
less Common • Hypertension (acute or chronic)
• Chromosome Abnormality • Uncontrolled diabetes mellitus
o Trisomy 18 (T18) • Thrombophilia
o Trisomy 13 (T13) • Collagen vascular disease
o Triploidy • Drugs/alcohol/smoking
• Twin-Twin Transfusion Syndrome • Malnutrition
• Isolated Anomalies with IUGR o Uterine-placental causes
o Gastroschisis • Chronic abruption
o Single Umbilical Artery • Infarction
Rare but Important • Confined placental mosaicism
• Infection • Marginal or velamentous cord insertion
o Doppler findings
• t Uterine artery (UtA) resistance with
ESSENTIAL INFORMATION post-systolic notch
Key Differential Diagnosis Issues • t Umbilical artery (UA) resistance
• Intrauterine growth restriction (IUGR) • t Ductus venosus (DV) resistance
defined as estimated fetal weight (EFW) < • ! Middle cerebral artery (MCA) resistance
10th percentile for gestational age (GA) o Findings in addition to IUGR
o Accurate GA essential for diagnosis • Oligohydramnios
• IUGR vs. small for gestational age (SGA) • Placental sonolucencies
o IUGR: Fetus not reached growth potential • Poor BPP score
o SGA: Fetus is small but normally grown o Management/treatment
o Difficult to differentiate prenatally • Manage maternal condition
• Look at parents and siblings • Increased surveillance
• Symmetric vs. asymmetric IUGR • Abnormal Doppler, fluid, BPP in 3rd
o Symmetric: All biometry equally affected trimester ~ consider delivery
• Often early and severe IUGR Helpful Clues for less Common Diagnoses
• Suggests fetal problem • Trisomy 18 (TI8)
• Possible early placental dysfunction o IUGR in 51% (rarely isolated)
o Asymmetric: "Head sparing" with • Early onset, symmetric IUGR
abdomen, extremities more severely o Anomalies associated with T18
affected • Cardiac defects
• Often presents later in pregnancy • Dandy-Walker continuum
• Suggests placental cause • Spina bifida
• Better prognosis if not severe • Omphalocele
• Early IUGR vs. late IUGR • Clenched hands + overlapping index
o Early IUGR more likely fetal cause finger, rockerbottom feet
• Look for anomalies o Markers associated with T18
• Consider amniocentesis • Choroid plexus cyst
o Late IUGR more likely placental cause • Single umbilical artery
• IUGR differential diagnosis approach • Umbilical cord cyst
o Rule out fetal anomaly as cause for IUGR • Nuchal thickening
• Amniocentesis if fetal anomaly suspected • Trisomy 13 (T13)
o Consider maternal medical history o IUGR in 50% (rarely isolated)
o Assess amniotic fluid • Early onset, with microcephaly
o Assess fetal/placental circulation o Anomalies associated with T13
• Doppler
11 • Holoprosencephaly, microcephaly
2
• Hypotelorism, cyclopia, proboscis o 50% develop lUGR

• Dandy-Walker continuum • Often leads to early delivery
• Polydactyly o Bowel complications may develop during
• Cardiac defects pregnancy
• Gastrointestinal anomalies • Dilatation, ischemia, rupture
o Markers associated with T13 • Single Umbilical Artery
• Echogenic cardiac focus o 15% of fetuses with an isolated single
• Single umbilical artery umbilical artery (SUA) have IUGR
• Nuchal thickening • Follow-up for growth into 3rd trimester
• Triploidy o Non-isolated SUA
o 69 chromosomes (extra haploid set) • 50% aneuploidy rate
• Maternal or paternal extra set • T18 most common
o Early severe lUGR is hallmark finding Helpful Clues for Rare Diagnoses
• Asymmetric if maternal extra set
• Infection
o Variable placenta findings according to
o lUGR and hydrops are early findings
source of extra set o Common infections: Parvovirus,
• Thick and cystic (paternal) cytomegalovirus, toxoplasmosis, varicella
• Small or normal (maternal) o Other findings
o Ovarian theca lutein cysts
• Echogenic bowel
o Fetal anomalies often severe but difficult to
• Brain, liver, spleen calcifications
completely characterize prenatally
• Small fetus Other Essential Information
• Oligohydramnios • Late presentation case: Is fetus small or are
• Thick cystic placenta displaces fetus dates wrong?
• Twin-Twin Transfusion Syndrome o Look for lower extremity ossification
o Monochorionic twinning with centers to verify dating
artery-to-vein anastomoses in placenta • Distal femoral epiphyseal ossification ""
• Donor twin partly perfuses recipient twin 32 weeks
o Donor twin with lUGR • Proximal tibial epiphyseal ossification ""
• Oligohydramnios 35 weeks
• Abnormal Doppler o Look at fluid and Doppler values
• Gastroschisis • IUGR + polyhydramnios ~ bad prognosis
o Bowel herniation through right paramedial o Associated with aneuploidy, syndromes
abdominal wall defect o Amniocentesis warranted
Placental Insufficiency Placental Insufficiency
Pulsed Doppler ultrasound of the umbilical artery shows

elevated UA resistance in a fetus with third trimester
Axial pulsed Doppler ultrasound of the MCA in the
same fetus shows an SID ratio of 2.5. MCA resistance is
11
IUCR and oligohydramnios. The systolic/diastolic rado normally higher than the UA, and the finding suggests
(5/0) is 5.6 and should be < 3.0. "head sparing" compensatory physiology.
3
Cl INTRAUTERINE GROWTH RESTRICTION
C
'Qi
1XI

(Leh) Table of a 28 week 3
day fetus with late care
shows IVCR, but only if the r-
LMP dates are accurate. GA(LMp) ~
Oligohydramnios was also
present, and Doppler
GA(AUA) 26wOd I
assessment was undertaken
to assess for IVCR. (Right)
?I'J Mp.it5Ulements m1 m' m3
Pulsed Doppler ultrasound of APll (Hadlock) J26wOd 24w6d-27w1 d <2.0'10

the umbilical artery, in lhe
HC (Hadlock) J26wOd 24w3d-27w3d <2.0'10
same case, shows absent
diastolic flow =:II and AC (Hadlock) J25W2d 24w2d-26w2d <2.0'10
occasional reversal of
diastolic flow E!ll suggesting
Fl (Hadlock) I26wld 25w2d-28wOd 3.2~
markedly increased placental
resistance. This finding is
highly suggestive of placental
insufficiency and IVCR.

(Leh) Sagitla/oblique
ultrasound of the right
uterine artery, in a
continuation of the same
case, shows high resistive
flow with post-systolic
notching =:II. (Right) Sagittal
oblique ultrasound of the left
uterine artery also shows
post-systolic notching =:II.
This pattern ;s abnormal in
the second lrimester (normal
in first trimester). Abnormal
UtA waveform carries a 71 %
positive predictive value for
adverse outcome.
Placental Insufficiency
ultrasound of the ductus
venosus, in the same case,
shows that normal flow is
severe IVCR. The S =.

still maintained despite the
=. D
and A E!llI waves refleel
systole, diastole, and atrial
contraction, respectively.
Flow should be continuously
towards the hear/. (Right)
another fetus with severe
placental insufficiency shows
reversal of the A wave E!llI.
The finding is associated
with fetal hypoxia and
cardiac decompensation.
11
4

a lhickened, cystic placenta
till and oligohydramnios IJ:I.
The findings were highly
suspicious for triploidy, but
amniocentesis results were
normal. (Right) Coronal
ultrasound on follow-up in
the same case shows fetal
demise with overlapping
calvarial sutures =.
the
Spalding sign. Placental
palhology showed placental
fibrin deposition and
infarction.

(Left) T2WI MR shows
oligohydramnios, IUCR, and
a heterogeneous placenta
till. The MR confirmed lhe
absence or fetal anomalies.
/UCR was lhe resull of
(Right) Cross seclion of a
placenta from a pregnancy
complicated by severe early
IUCR shows extensive
lannish fibrin deposits till
and diffuse thrombosis.
Severa/lakes WilhoUI
lhrombosis IJ:I are distended
10 compensale for lhe diffuse
thrombosis.

(Left) sagiltal ullrasound
shows a subacute abruption
=:I from lhe margin of a
posterior placenta Ell.
placenta shows a marginal
cord insertion" a single
umbilical artery Ell. and a
small "globufarll placenta
=. also known as a
baltledore placenta. The
pregnancy was complicated
by chronic bleeding and
IUCR. The fetus was
delivered at 30 weeks and
did well.
11
5
Cl INTRAUTERINE GROWTH RESTRICTION
l:
"Qj
al
Trisomy 18 (T18) Trisomy 18 (T18)

(Left) Table shows early,
symmetric IUCR in a fetus
septal defect=-
with a small ventricular
These
findings led to amniocentesis
and the diagnosis of trisomy
18. (Right) Clinical
photograph of a full-term
newborn with trisomy 18
who had in-utero symmetric
IUGR. There are minor
external anomalies, such as
overlapping fingers ~ and
poor tone. In-utero findings
also included a ventricular
septal defect. The baby died
at 2 months of age.
(Leh) Head measurement of

a fetus with trisomy 13
shows a normal biparietal
diameter, but that is
secondary to a very round
Bl brachycephalic shape.
The head circumference was
actually 2.5 weeks behind.
Microcephaly is a feature of
trisomy 13. (Right) Autopsy
shows polydactyly Bl a
minor anomaly associated
with trisomy 73. IUGR was
an important finding in the
prenatal diagnosis in this
case.

shows severe, early,
asymmetric IUGR, with the
body =-
head EillI/arger than the
Amniocentesis
results revealed triploidy.
shows asymmetric IVCR in a
case of triploidy. Late
asymmetric IUGR is
associated with placental
insufficiency, but early IUGR
is more suspicious for
aneuploidy. Triploidy with
an extra maternal set of
chromosomes classically
presents with early severe
asymmetric IUGR.
11
6

monochorionic twins with
discordant abdominal
circumferences. Twin A is
clearly smaller than twin B.
The difference in EFW was>
20%, and twin A had
oligohydramnios. (Right)
Pulsed Doppler ultrasound of
UA flow for twin A shows
reversal of diastolic flow Ei!l
while twin 8's VA waveform
is normal. Twin A is the
pump twin in this pregnancy
complicated by twin-twin
transfusion.
third trimester pregnancy
extracorporeal =
with gastroschisis shows
and
intra corporeal BI bowel
distention. (Right) Color
abdomen shows the superior
mesenteric artery =
extending from the aorta HI
through the abdominal
defeetlllto the extruded
bowel. Fetuses with
gastroschisis are at risk for
IUCR, oligohydramnios, and
bowel complications in the
third trimester, often leading
to early delivery.
Infection
umbilical cord shows a single
umbilical artery. and i/5
corresponding umbilical vein
BI. The SUA is larger than
expected because it carries
700% of the blood volume,
instead of 50%. /UCR
complicates /5% of
pregnancies with isolated
SUA. (Right) Sagittal oblique
ultrasound shows
oligohydramnios III and
diffuse skin edema BI in a
fetus with IUCR.
Amniocentesis confirmed
parvovirus infection.
11
7
MACROSOMIA
DIFFERENTIAL DIAGNOSIS o Associated anomalies

• Caudal dysplasia/regression
Common • Open neural tube defect
• Idiopathic Macrosomia • Cardiac anomalies (5x t risk)
• Diabetes • Polydactyly
less Common • GU/GI anomalies
• Hydrops • Single umbilical artery
Rare but Important Helpful Clues for less Common Diagnoses
• Beckwith-Wiedemann Syndrome • Hydrops
o Immune and nonimmune causes
o Excessive body fluid => large fetus
ESSENTIAL INFORMATION • Anasarca ± cystic hygroma
Key Differential Diagnosis Issues • Pleural effusion
• Large for gestational age fetus • Ascites
o t Estimated fetal weight (EFW) Helpful Clues for Rare Diagnoses
• > 90th or 95th percentile • Beckwith-Wiedemann Syndrome
• Birth weight> 4,000-4,500 g o Signs/symptoms
• AC alone can predict macrosomia • Macroglossia
037% risk of macrosomia if AC > 37 cm • Enlarged internal organs (especially
o < 1% risk of macrosomia if AC < 35 cm kidneys)
o AC often 1st measurement to t • Hemihypertrophy
• t Glycogen stores in liver • Omphalocele
• Truncal obesity o Prognosis
• Prevalence • 20% infant mortality
o 16-18% in diabetics • 7-10% tumor risk (Wilms tumor most
o 6-8% in non-diabetics common)
• Idiopathic Macrosomia • Fetal complications of macrosomia
o No fetal anomalies o Shoulder dystocia (10%)
o Hereditary factors (t risk if mom is large) o Asphyxia
o 1/3 with polyhydramnios o Hypoglycemia, hypocalcemia
• Diabetes • Macrosomia associated with
o Polyhydramnios common polyhydramnios
Idiopathic Macrosomia Idiopathic Macrosomia
11 Axial ultrasound of the fetal abdomen shows increased

truncal subcutaneous fat _. The abdominal
Anteroposterior radiograph shows newborn
complications of macrosomia. The baby is intubated =:I
circumference measurement was 5 wks greater than the because of meconium aspiration m
Also, there is a left
other fetal biometric measurements. clavicular fracture iii from birth trauma.
8
MACROSOMIA
Diabetes
polyhydramnios IIlliI and an
enlarged abdominal
subcutaneous fat =-
circumference with excessive
The
patient presented in the third
trimester with uncontrolled
diabetes. Multiple fetal
anomalies were also present.
the large abdomen =

of the same neonate shows
polydactyly & in/ernally

rotated, flexed feet =:II.
Caudal regression, abnormal
leg posturing, & polydactyly
are anomalies associated
with diabetic embryopathy.

through the abdomen shows
massive ascites" The fetal
bowel lEI is displaced
posteriorly towards the spine
E!ll The fetus is large
because of anasarca and
ascites. (Right) Clinical
photograph in a similar but
different case of a stillborn
with macrosomia from
hydrops. There is a massively
distended abdomen HI from
ascites and subcutaneous
edema involving the
extremities, face, and scalp.
Beckwith-Wiedemann Syndrome
shows an enlarged liver HI
and spleen. in a fetus with
Beckwith-Wiedemann
syndrome. The bowel is
displaced centrally!lllil. The
fetus also had macroglossia
and polyhydramnios. (Right)
Frontal radiograph of a
newborn with
Beckwith-Wiedemann
syndrome shows
hepatomegaly E!ll The fetal
bowel and feeding tube IIlliI
are displaced to the left by
the large liver.
11
9
Cl
c: HYDROPS
QI
CD
Gi DIFFERENTIAL DIAGNOSIS • Tachyarrhythmia
3: o Sustained heart rate> 200 bpm
'C
c: Common o Supraventricular tachycardia (SVT)most
III
.c
• Nonimmune Hydrops common cause
~ o Idiopathic o Hydrops develops in 50-75% fetuses with
o
•.. o Cardiac sustained tachycardia
<.') • Structural Cardiac Defect o Increased risk of ischemic brain injury
• Tachyarrhythmia when hydrops is present
• Bradyarrhythmia • Bradyarrhythmia
o Fetal Masses o 50% associated with cardiac malformation,
• Hemangioendothelioma particularly atrioventricular septal defects
• Teratoma o 50% of cases seen in mothers with
• Vascular Malformations connective tissue disease
o Placental Chorioangioma o Increased mortality with heart rate < 50
o Chromosome Abnormalities bpm
• Turner Syndrome (XO) • Fetal Masses
• Trisomy 21 o Any mass causing increased cardiac output
o Twin-Twin Transfusion Syndrome may lead to failure and hydrops
o Infection • Teratomas and vascular malformations
• Immune Hydrops most common
o Rh Incompatibility • Hemangioendothelioma may cause
o Other Antibodies hemolytic anemia in addition to
arteriovenous shunting
ESSENTIAL INFORMATION o Chest masses may also impede cardiac
return
• Placental Chorioangioma
o Benign, vascular placental tumor
o Fetal hydrops from arteriovenous shunting
or from fetal anemia secondary to
hemolysis
• Hydrops uncommon if mass is < 5 cm
o Polyhydramnios common with large
masses
• Turner Syndrome (XO)
o Female fetus with large, septated cystic
hygroma
• Failed or delayed connection between
internal jugular veins and nuchal lymph
sacs
o Hydrops secondary to fluid overload from
lymphatic obstruction
• Edema is diffuse and may be dramatic
• Dorsal pedal edema prominent feature
o Hydrops can be seen in first trimester
o Prognosis with hydrops is dismal
• Trisomy 21
o Small cystic hygroma (increased nuchal
translucency in 1st trimester) becomes
nuchal thickening in 2nd trimester
o May present with hydrops
o Other markers often seen
11
10
HYDROPS
• Twin-Twin Transfusion Syndrome o Rh Incompatibility

o Monochorionic twins with artery-to-vein • Maternal lack of D antigen on
anastomoses in the placenta erythrocyte membrane (Rh -)
o Recipient at risk for hydrops • Sensitization 2° to fetal-maternal
• Larger twin with polyhydramnios hemorrhage
o Donor at risk for growth restriction • Fetal D antigen causes maternal antibody
• Smaller twin with oligohydramnios response « 1 cc fetal cells can lead to
o Twin-twin transfusion syndrome (TTTS) anti-D antibody response)
staging • With subsequent pregnancy, maternal
• Stage 1: Donor bladder visible, normal antibodies attack fetal red blood cells
Doppler • Leads to lysis of fetal erythrocytes
• Stage 2: Donor bladder empty, normal • Causes anemia and may progress to
Doppler hydrops if left untreated
• Stage 3: Donor bladder empty, abnormal o Other Antibodies
Doppler • Non-D antigen causes alloimmunization
• Stage 4: Hydrops in recipient (usually from incompatible blood
• Stage 5: Demise of one or both transfusion)
• Infection • Kell, Duffy, Kidd, £, C, c, and others
o Parvovirus most common but can occur • Most are variably present in different
with any severe infection ethnic populations
o Infection - anemia, myocarditis Other Essential Information
o Look for other signs of infection
• First trimester hydrops .highly associated
• Intracranial and liver calcifications, with aneuploidy
ventriculomegaly, hepatosplenomegaly, o Turner, trisomy 21 most common
echo genic bowel, growth restriction • Nonimmune hydrops
• Immune Hydrops o Over 50% have no unifying diagnosis or
o Maternal antibodies cross placenta and directly identifiable cause
cause lysis of fetal red blood cells, leading o 22% have a cardiac defect
to fetal anemia 016% have aneuploidy
o Anemia causes an elevated middle cerebral
• Turner syndrome> trisomy 21
artery (MCA) peak systolic velocity (PSV) • Trisomy 18 and 13 less likely to present
o Need for intervention (transfusion) with hydrops (growth restriction more
generally based on relationship of MCA common)
PSV to gestational age
Axial color Doppler ultrasound of the pelvis shows

ascites • on eilher side of the bladder Elil which is
Sagittal ultrasound in the same case shows marked
scalp and face edema EEl. The scalp is one of the firsl
11
flanked by the umbilical arteries (skin edema!llD!.No places to see skin edema. This felus died in ulero with
obvious etiology was found for the hydrops. no unifying diagnosis found at autopsy.
11
HYDROPS
Structural Cardiac Defect Structural Cardiac Defect

shows the typical MR
findings of hydrops including
pleural effusions =.
high-signal skin edema E!ll
and
ascites !lEI. Hydrops resulted
from poor cardiac return
secondary to ectopia cordis
(seen on other images).
shows both a ventricular
septal defect !lEI and
absence of the atrial septum
=. The ventricular rate was
53 beats per minute. 50% of
fetuses with sustained
bradycardia will have a
cardiac malformation.
Tachyarrhythmia Tachyarrhythmia
(Left) M-mode ultrasound at
initial presentation shows a
fetal ventricular rate was 248
beats per minute. The heart
size. was normal,and
there was no evidence of
hydrops. Despite immediate
instigation of treatment, the
fetus remained in SVT.
fRight) Coronal ultrasound of
the same felUs shows the
development of hydrops
with pleural effusions
ascites (not shown), and
=.
hepatomegaly !lEI. The infant
was delivered by emergency
C-section at 29 weeks
gestation.
Tachyarrhythmia
(Left) M-mode ultrasound
shows a sustained ventricular
rate of 266 bpm. The fetus
was hydropic at presentation
(pleural effusion Eli. (Right)
Radiograph immediately
after delivery shows features
of congestive heart failure,
including cardiomegaly
ascites causing abdominal
distention E!ll and diffuse
skin edema =:1
11
12
HYDROPS
Bradyarrhythmia Teratoma
...• a hydropic fetus shows
cardiomegaly III ascites •.
It and skin edema Ea.
# Mortality approximates 7S%
when hydrops occurs with
,t!-
• .. -
•,
0:; bradycardia. (Right) ]0
ultrasound of a large
sacrococcygeal teratoma I!iEI
IA (sacrum. leg Ellli. Masses
of this size pUl a large strain
on cardiac output.
~f
"(1
~ \!
Teratoma Teratoma
(Left) Coronal color Doppler
ultrasound from the previous
case shows a large vessel
supplying the mass. The
=
vessel caliber was larger than
that of the aorta. (Right)
Coronal ultrasound higher in
the abdomen shows
dilatation of the inferior vena
cava lID; compare with the
aorta _ This is one sign of
impending cardiovascular
compromise. If hydrops
develops, the prognosis is
dismal.
Vascular Malformations Vascular Malformations

ultrasound of the fetal head
shows a midline, elongated,
cystic structure =..
ventriculomegaly HI and
scalp edema 1!iEI. (Right)
Axial oblique pulsed Doppler
ultrasound demonstrates
dramatic blood flow in this
"cyst", confirming an
arteriovenous fistula (vein of
Galen malformation).
Significant shunting leads to
high output failure and
hydrops. The
ventricuJomegaly was
secondary to ischemic
changes.
11
13
HYDROPS
Placental Chorioangioma Placental Chorioangioma

ultrasound of the placenta
shows a large, lobular,
hypoechoic mass, which
demonstrates marked
vascularity. A portion of
normal placenta lEI is also
seen. (Right) Axial
ultrasound of the fetal chest
==
cardiomegaly skin
edema and a small
(calipers). The large volume
of vascular shunting caused
hydrops in the fetus.

(Left) Gross pathology of
Turner syndrome shows a
large hygroma =
diffuse hydrops. The
and
abdomen is distended from

ascites III. There is dramatic
subcutaneous edema with
characteristic dorsal pedal
edema BII. (Right) Sagittal
ultrasound of the foot in
another case of Turner
syndrome shows marked
dorsal pedal edema lEI.
Turner Syndrome (XO) Trisomy 21

late , sl trimester fetus shows
diffuse edema BII and a large
posterior hygroma with two
large cysts lEI. Turner
syndrome typically has
larger, more complex
hygromas and more severe
hydrops than does trisomy
2/. (Right) Coronal
ultrasound shows a 1st
trimester fetus with diffuse
skin edema =.
Chromosomes showed
trisomy 21.
11
14
HYDROPS G')
a
!
::T
III
:l
Co
Twin-Twin Transfusion Syndrome Twin-Twin Transfusion Syndrome :E
(Leh) Axial ultrasound !.
through the abdomens of lXJ
monochorionic diamniotic CII
twins shows no apparent :l
Ie
membrane, because it is
tightly wrapped around the
donor twin Ea. The recipient
is severely hydropic with skin
edema !I:l and massive
ascites =. (Right) Gross
pathology (rom a different
case shows a hydropic
recipient twin with edema
E!lI and ascites at and a
small donor twin =.
Note
the close proximity of the
cord insertions ~
Twin-Twin Transfusion Syndrome Infection

(Leh) Sagillal ultrasound of
the recipient twin in another
TITS case shows
hepatomegaly = and
cardiomegaly with a small
pericardial effusion m
ultrasound shows ascites =.
This was pari of generalized
hydrops, which also
included skin edema and
pleural fluid. The clue to the
diagnosis is the echogenic
bowel Bl which suggests
infection. This fetus had a
parvovirus infection that
caused fetal anemia and
subsequent hydrops.
Immune Hydrops Immune Hydrops

(Left) Axial pulsed Doppler
example of hydrops (rom
anemia. MCA Doppler
interrogation showed a high
peak systolic velocity,
consistent with fetal anemia.
The fetus had scalp edema
Bl body wall edema, and
Pulsed Doppler ultrasound
ten days after the transfusion
shows the scalp edema has
resolved E!lI and the MCA
peak systolic value has
decreased from S9 cm/see to
36 cm/see (normal for
gestational age).
11
15
Cl
c: FETAL ANEMIA
"Qi
CD
DIFFERENTIAL DIAGNOSIS • Post chorionic villus sampling or
~ amniocentesis
"C
c: Common • Following spontaneous or elective
III
.c
• Alloimmunization abortion
o Rh Incompatibility
..
~
o
Cl
o Other Antibodies
• Infection
• Maternal trauma
• At time of delivery of an Rh + infant
• Prophylactic dose given at approximately
o Parvovirus B19 28 weeks gestation
Rare but Important o If no prior history of antibody
• Hemangioendothelioma sensitization - correlate with antibody
• Leukemia titers to assess for risk of fetal anemia
• Fanconi Anemia o If history of prior sensitization - plan for
increased surveillance and monthly
antibody titer until critical titer reached
ESSENTIAL INFORMATION (generally 1:8-1:16)
Key Differential Diagnosis Issues • Once critical titer reached, then follow
• Clinical history is often key to diagnosis serial MCA-PSV
o Watch for fetal anemia with maternal o Fetal hemolytic disease similar to or more
history of isoimmunization severe in subsequent pregnancies
• Usually with Rh negative maternal blood o Serial ultrasound evaluation
types • Monitor for hydrops
• Can have other minor antibody • Check PSV in MCA
sensi tiza tions • Increased PSV indicates worsening fetal
o Obtain history of potential viral exposures anemia
• Look for associated fetal abnormalities • Follow-up interval and intervention
which can cause fetal anemia based on PSV measurements compared
o Tumors to normative scale (Mari zones A-D)
o Vascular malformations o Cordocentesis and transfusion if anemia
• Always consider anemia when a fetus severe
presents with hydrops • Other Antibodies
• Middle cerebral artery (MCA) Doppler peak o Most sensitizations caused by
systolic velocity (PSV) measurements incompatible blood transfusions
elevated in anemia • Includes Kell, Duffy, Kidd, E, C, c and
o Very accurate noninvasive method to multiple other antigens
screen for fetal anemia o Similar management of pregnancy as with
Rh alloimmunization
• Parvovirus B19
• Rh Incompatibility o 20-30% of women who become infected
o Occurs in women who are Rh (-)
during pregnancy transmit to fetus
• Indicates absence of D antigen in • 4% risk of fetal hydrops
erythrocyte membrane • Highest risk of fetal death if infected < 20
o Results from maternal immune response
wks gestation
against RhD antigen on fetal red blood o Fetal anemia causes sonographic findings
cells • Parvovirus attacks red blood cell
• Maternal anti-D antibodies cross precursors
placenta • Involvement of cardiac myocytes may
• Leads to lysis of fetal erythrocytes contribute to hydrops
o Prophylaxis should be given routinely if
o Ascites most common presenting finding
woman is Rh (-) and when fetal and • Progression to hydrops in severe cases
maternal blood could be in contact o Maternal infection should be managed by
• Ectopic pregnancy high risk specialist
11
16
FETAL ANEMIA
o Weekly ultrasound for 10-12 weeks after o Autosomal recessive

seroconversion • Multiple known gene mutations
• Check for developing hydrops • Can be tested prenatally with
• Monitor MCA Doppler PSV to assess for amniocentesis and chromosome
fetal anemia breakage studies
• Intrauterine transfusion warranted for • Usually Jewish ancestry or family history
fetal anemia will spur mutation test for more
common gene defects
• If fetus is index case then likely will not
• Hemangioendothelioma
be able to test for all known mutations
o Typically solid, well-defined large mass
until birth
o Variable echogenicity: Can be hypoechoic,
o Prenatal ultrasound shows mainly
hyperechoic or mixed echogenicity
musculoskeletal abnormalities
o Very vascular mass with arteriovenous
shunting on color Doppler • Radial ray defect
o Arteriovenous shunting may result in
• Absent or hypoplastic thumb
hemolytic anemia (Kasabach-Merritt • Microcephaly, micrognathia
o Can also have genitourinary or cardiac
sequence)
malformations
o Both vascular shunting and anemia
o May have non-immune hydrops or
contribute to development of hydrops
intrauterine growth restriction
• Leukemia
o Usually presents with hepatosplenomegaly Other Essential Information
• Unlike other liver tumors, most • Kasabach-Merritt sequence
commonly diffuse enlargement rather o Rare condition associated with vascular
than focal mass lesion such as hemangioendothelioma or
o Associated with Down syndrome high-flow arteriovenous fistula
o Hydrops can develop due to multiple o Results in consumptive thrombocytopenia,
factors coagulopathy, hemolytic anemia
• Fetal anemia • Fetal disseminated intravascular
• Leukemic infiltration of myocardium coagulation can result
• Visceral fibrosis with increased vascular o May present with cardiomegaly and
resistance hydrops due to anemia and high output
• Fanconi Anemia heart failure
o Inherited bone marrow failure syndrome
Axial color Doppler ultrasound of the middle cerebral

artery shows an elevated peak systolic velocity,
Ultrasound during !he transfusion shows !he echogenic
needle tip. in the umbilical vein allhe cord insertion.
11
measuring up to 76 em/sec. This plots in zone A for 31 This is a typical location for umbilical vein access.
weeks, indicating severe fetal anemia. Subsequent MCA peak velocity measured 52 em/sec.
17
FETAL ANEMIA

an echogenic needle tip E!lI
in the intra-abdominal
portion of the umbilical vein
ilia during {etal transFusion.
This approach can be used i(
the cord base is difficult to
access. (Right) Ultrasound
during fetal transfusion
=
shows the echogenic needle
entering a free loop of
umbilical cord E!lI. This
approach can also be used
when access to the placental
cord insertion site is limited.
Parvovirus 819 Parvovirus 819

hydrops with skin edema
and ascites E!lI. (Right) Axial
=
cardiomegaly E!lI and pleural
fluid!l:l. The MCA peak
systolic velocity was elevated
for a 23 week gestation. Fetal
transfusion was allempted;
however. the procedure was
not tolerated, and the fetus
expired. Fetal blood
sampling showed a
hematocrit of 6 and low
platelets of 9000.
Parvovirus 819 Parvovirus 819

shows skin edema even
=.
involving the head and face
Realtime imaging
demonstrated very little fetal
movement At the initial 17
week scan, the fetus was
already 1.5 weeks behind in
growth. (Right) Coronal
shows diffuse skin edema
with the head E!lI
=
hyperexlended in an unusual
position. Ascites was a/50
present e=. Amniocentesis
confirmed parvovirus
infection.
11
18
FETAL ANEMIA
ultrasound through the fetal llJ
abdomen shows a !!!.
heterogeneous vascular mass ~
CC
III No normal liver could be
identified. (Right) Axial T2WI
MR in the same case shows a
lobular, intermediate signal
mass III within the left lobe
of the liver. A normal right
lobe E!lI is identified. MR is
often beller able 10 define
the extent of the mass.
fLeft) Axial ultrasound in the
same case immediately after
delivery shows the entire left
lobe of the liver replaced by
a heterogeneous. mildly
hyperechoic mass (cursors).
Note the multiple large
vessels= within the mass.
ultrasound confirms marked
flow within this lesion.
Vascular tumors such as this
can cause platelet trapping
and a consumptive
coagulopathy resulting in
fetal anemia
fKasabach-Merril!
sequence).
leukemia leukemia
shows massive
hepatomegaly III in a fetus
with congenital leukemia.
The spleen was also grossly
enlarged. (Right) Gross
pathology of the same case
shows gross hepatomegaly
with the liver essentially
filling the entire abdomen.
Fetal leukemia has a strong
association with trisomy 21.
If fetal leukemia is suspected.
cordocentesis for both blood
cell analysis and karyOlyping
should be performed.
11
19
Cl
C
ABNORMAL FETAL PRESENTATION
Ql
al
Qj DIFFERENTIAL DIAGNOSIS Helpful Clues for Common Diagnoses
~
"C Common • Occiput-Posterior
C
CIl o Vertex + face to pubis
.c
• Occiput-Posterior
o Vaginal delivery attempted
~ • Complete Breech
•..
o • Frank Breech • Labor typically longer
Cl
• Footling Breech • Complete Breech
o Buttocks presenting
less Common o Flexed legs (feet down)
• Transverse Lie • Frank Breech
• Incomplete Breech o Buttocks presenting
Rare but Important o Extended legs (feet up)
• Funic Presentation • Footling Breech
o Foot or feet presenting
ESSENTIAL INFORMATION Helpful Clues for less Common Diagnoses

• Transverse Lie
Key Differential Diagnosis Issues o Fetus is sideways
• Normal presentation at term • Head in one flank, bottom in other
o Vertex and occiput-anterior o Obligatory cesarean delivery
• Back of head faces pubis • Incomplete Breech
o 43% vertex at 15-22 weeks o Hybrid of complete and frank breech
090% vertex at 31-35 weeks o One leg extended and one leg flexed
• 3-4% of term fetuses are breech
o 87% deliver by cesarean section
o External cephalic version • Funic Presentation
o Umbilical cord slips in front of fetus
• 40% success in nulliparous women
• 60% success in multiparous women • More common with nonvertex
• Etiology of malpresentation presentation
o Cord may prolapse into vagina
o Idiopathic
o Emergency cesarean delivery
o Prematurity
o Placenta previa Other Essential Information
o Uterine anomaly • Twins
o Abnormal fetal movement o Presenting twin vertex for vaginal delivery
o Second twin position less important
Occiput-Posterior Complete Breech
11 position; however, the face =-

Sagittal ultrasound shows a late term fetus in a cephalic
not the occiput, is
facing the anterior uterine wall. The finding may be
=
Sagittal ultrasound of a fetus at term shows a flexed knee
that lies close to the fetal trunk EEl. The tibia and
fibula extend inferiorly The felal bottom = is
relevant if the patient is in active labor. largely obscured by the leg but is near the cervix.
20
ABNORMAL FETAL PRESENTATION Cl
i3
!
:T
III
::l
Co
Complete Breech Frank Breech
(Leh) 3D ultrasound in the
:e!.
second trimester shows a l:ll
fetus in complete breech !!!.
position. The lower ::l
CC
eXlremilies are flexed at the
knees (Right) 3D
ultrasound in the second
trimester shows a fetus in
frank breech position with an
extended leg (knee ail and
foot Ellli. Breech positioning
is common in the second
trimester, bUllhe majority of
fetuses con veri 10 a cephalic
presentation by term.
Footling Breech Footling Breech

(Left) Sagittal ultrasound in a
near term fetus shows that
the feet ail and lower legs
BII are lower than the fetal
pelvis and are the presenting
parts. (Right) Sagittal 3D
ultrasound in a 30 week
pregnancy shows the feet ail
are the presenting parts
adjacent to the cervix II!l.
This position may change
with advancing pregnancy.
Transverse Lie Funic Presentation

(Leh) Transverse ultrasound
in the third trimester shows
the fetal head on the right
ail and the fetal trunk 11m on
the lef/. The pregnancy was
complicated by a complete
placenta previa. (Right)
ultrasound of another case
shows dilatation of the
internal as of the cervix lID
and a loop of cord at the
cervical as HI. The cord is
the presenting structure and
is at risk for prolapse through
the cervix.
11
21
SECTION 12
uterus-Cervix
Short Cervix 12-2
Uterine/Cervical Mass 12-6
>C SHORT CERVIX
.~
Gl
o•
TL: Used in 3rd trimester
..
-
:l
Gl
• Transducer placed at introitus
:J Common • Coapted vaginal walls act as acoustic
• Mimics window to cervix
o Poor Scan Technique • Safe in patients with ruptured
o Nabothian Cyst membranes
o Prominent Mucus Plug o TV: Best technique for evaluation of
o Curved Cervix cervical length, dynamic changes,
• Incompetent Cervix relationship to placenta, & to exclude vasa
• Multiple Gestation previa
• Failed Cerclage • Bladder empty
• Uterine Duplication • Transducer placed in vagina under direct
Less Common visual monitoring
• Loop Electrosurgical Excision Procedure • Advance until cervix in focus, retract
(LEEP) until cervix just within focal zone
• Trachelectomy • Anterior lip & posterior lip should be
same thickness
• Measure length along endocervical canal:
ESSENTIAL INFORMATION Bright echogenic line
Key Differential Diagnosis Issues • Observe for several minutes for dynamic
• Short cervix defined as length < 26 mm at 24 changes ± apply fundal or suprapubic
weeks pressure
o Increases relative risk for preterm delivery • Bladder neck mucosal echo is anatomic
by a factor of 6.19 landmark for internal os
o Sensitivity of 37% for delivery before 35 • Ruptured membranes is a relative
weeks, positive predictive value of 18% contraindication for TV sonography
• Rates of preterm birth continue to rise • Obtain measurements
despite extensive research o Shortest length of closed cervix on good
o Measurement of cervical length is one image
method used in attempt to identify at-risk o Degree of dilatation of internal os
group who might benefit from o Length of funneling of membranes
intervention o Length of cervix above cerclage ± length
o However, effective interventions to cervix below cerclage
prevent preterm birth remain elusive • Recent review suggests absent cervix
• Correct scan technique vital for accurate above cerclage is associated with preterm
evaluation of cervical length delivery, chorioamnionitis, & preterm
• Options include transabdominal (TA), premature rupture of membranes
translabial (TL), & transvaginal (TV) Helpful Clues for Common Diagnoses
o TA: Use amniotic fluid as acoustic window • Mimics
to cervix in second trimester o Poor Scan Technique
• Transducer inferior to maternal • Spurious short measurement may alter
umbilicus, angled inferiorly management & have patients needlessly
• Scanning in suprapubic area ...• placed on bed rest, etc.
shadowing by pubic symphysis • Spurious long measurement may lead to
• Full bladder or lower segment missed opportunity to intervene in
contraction may artificially elongate at-risk patients
cervix ...•missed diagnosis of short cervix o Nabothian Cyst
• Contraction may mimic appearance of • May cause confusion with fluid in cervix
fluid within endocervical canal • Check for normal echogenic
• In 3rd trimester, presenting part may endocervical canal "stripe"
obscure detail: Perform TL or TV scans
12
2
SHORT CERVIX
-..
c
1Il
c:
en
• Scan from side to side: Nabothian cysts Helpful Clues for Less Common Diagnoses (-,
1Il
are thin walled, should be seen separate
from endocervical canal
• Loop Electrosurgical Excision Procedure <)C.
(LEEP)
• Large nabothian cysts may distort cervix, o Performed for cervical intraepithelial
alter contour of canal neoplasia (CIN)
o Prominent Mucus Plug o Women with a history of LEEP& cold
• Prominent hypoechoic material within knife conization have shorter cervical
endocervical canal lengths than low-risk controls
• No dynamic changes o Cervical lengths are similar to women who
• No internal os dilatation have had a previous spontaneous preterm
o Curved Cervix
birth
• Measure in series of straight lines & sum • Trachelectomy
for total length o Cervix absent, rather than short, due to
• Incompetent Cervix fertility sparing surgery for early cervical
o Cervix dilates without pain: Most likely to
cancer
present with mid-trimester loss • Cervix removed
• Multiple Gestation • Inferior aspect of remaining uterus closed
o Cervical length shorter in multiples than
with purse string suture
singletons o Delivery requires C-section
o Higher order multiples - decreasing
cervical length Other Essential Information
o Recent reviews indicate that cerclage does • Management of short cervix remains
not prevent preterm birth in multiples & controversial
may, in fact, be detrimental • Additional risk factors for preterm birth
• Failed Cerclage o Prior spontaneous preterm birth
o Membranes prolapse to, or through, level o History of 1 or more midtrimester losses
of cerclage o History of multiple cervical procedures
• Uterine Duplication (cone biopsy, LEEP,multiple dilation, &
o Mullerian duct anomalies overrepresented curettage procedures)
in infertility/recurrent abortion population o Uterine anomaly
o In addition to variant uterine morphology, o Excessive uterine distension (e.g., multiple
cervix may be shortened gestations, polyhydramnios)
Nabothian Cyst Nabothian Cyst
Sagittal transvaginal ultrasound shows several nabothian

cysts =:I separate from the endocervical canal &:I. The
Sagittal T2WI MR in a nonpregnant palient shows how
nabothian cysts can be confusing. The canal =:I is
12
endocervical canal must be shown in its full length normal in length, but could be measured short
before measurements are made. fbetvveen the arrows) if the cysts are nol appreciated.
3
>< SHORT CERVIX
.~
ell
(,)
III
:l
.
-
~
"-ell

Prominent Mucus Plug Curved Cervix
ultrasound shows a 2.9 cm

cervix in the third trimester.
The endocervical canal 11I:I
appears mildly dilated, but
this is merely a prominent
mucous plug. (Right) Sagittal
shows the correct way to
measure the length of the
cervix when it is curved. A
straight fine measurement
from internal =:I to external
os IllIl would underestimate
the length.
Incompetent Cervix Incompetent Cervix

shows cervical dilatation 11I:I
with the fetal feet in the
cervix and a large balloon of
membranes HI in the vaginal
vault. (Right) Sagittal color
same patient shows funic
presentation with a loop of
cord HI extending into the
ballooned membranes at the
vaginal vault in a patient
with an incompetent cervix
=-
Multiple Gestation Multiple Gestation

quadruplet 11I:I pregnancy. At
24 weeks gestation the
cervical length was 1.4 cm, a
common finding with higher
order multiples. (Right)
shows marked funneling of
membranes into a dilated
cervix HI. The patient had a
triplet pregnancy with
emergency cerclage 11I:I
placed at 18 weeks. The
membranes prolapsed
through the cerclage, with
premature rupture of
membranes at 22 weeks.
12
4
SHORT CERVIX
..-
c
lD
c::
VI
(,
lD
Uterine Duplication
<>C.
Failed Cerclage
shows a different patient
with a failed cerclage. The
membranes. have
cerclage =
prolapsed through the
This patient had
a live delivery at 32 weeks.
=-
shows cervical duplication
Patients with Mullerian
duct anomalies are at risk for
preterm labor. Number,
appearance, and length of
cervices should be
documented in these
patients.

ultrasound shows a
confusing appearance. There
is an apparently short, but
closed cervix (calipers)
measuring 1.76 cm, yet there
is a balloon of membranes
Ell seen in the vaginal vault.
the same patient shows that
the membranes E!lI are
ballooning through the other
cervix. This patient had a
known uterine duplication.
loop Electrosurgical Excision Procedure

(lEEP) Trachelectomy
ultrasound shows mild
cervical shortening at 18
weeks in a patient with a
history of LEEPfor cervical
intra-epithelial neoplasia.
appearance of a
post-trachelectomy lower
uterus •. The cervix was
removed and the inferior
uterus was closed with a
cerclage type suture buried
beneath the vaginal mucosa.
12
5
)(
.~ UTERINE/CERVICAL MASS
u
Q)
CIl
. DIFFERENTIAL DIAGNOSIS • Cystic often with thick, irregular
•..
:l
-
Q)
::::l Common
• Focal Myometrial Contraction
septations
• Calcified with dense shadowing
o Color Doppler
• Leiomyoma • Hypovascular compared to surrounding
• Placental Abruption, Mimic myometrium
• Uterine Duplication • May see uterine vessels splayed around
• Adenomyosis mass
Less Common o Increased complications if placental
• Chorioangioma, Mimic implantation is on fibroid
• Abruption
Rare but Important
• Spontaneous abortion
• Gestational Trophoblastic Neoplasia • Preterm labor
o Invasive Mole
• Intrauterine growth restriction
o Choriocarcinoma
• Postpartum hemorrhage
• Cervical Cancer o Cervical or lower uterine segment fibroids
• Uterine Sarcoma may obstruct delivery
• Placental Abruption, Mimic
ESSENTIAL INFORMATION o Echogenicity varies according to age
• Acutely more echogenic and may be
similar to placenta
• Is the finding constant? • Becomes more hypoechoic and
o Myometrial contractions are transient and
heterogeneous over time
change over course of the exam o Most are marginal abruptions
o Hematomas evolve over days to weeks
• Begin at placental edge and dissect under
o Fibroids may grow or degenerate
chorionic membrane
• Is it truly within the myometrial wall? • Have a crescentic or lentiform
o Retroplacental hemorrhage between wall
configuration and usually not confused
and placenta with a mass
o Chorioangioma originates from the
o Retroplacental abruption appears more
placenta "mass-like"
Helpful Clues for Common Diagnoses • Hematoma contained between placenta
• Focal Myometrial Contraction and uterus
o Transient myometrial thickening, which • May give erroneous appearance of either
changes during course of examination an enlarged placenta or a retroplacental
o May appear mass-like with elliptical shape fibroid
and no defined borders • Uterine Duplication
o Inner myometrium affected more than o Second horn in a duplicated uterine
outer anomaly may give appearance of uterine
o Iso- to hyperechoic compared to mass
myometrium o Always look for echo genic endometrium
• Leiomyoma within center of the "mass"
o Involves myometrium or cervix o 3 types of Mullerian duct anomalies
• Submucosal, intramural, subserosal, (didelphys, bicornuate, septate) have two
pedunculated endometrial cavities, which may be
o Generally round, well-defined, hypoechoic confused with a uterine mass
mass o Key to diagnosis is visualization of external
o May grow or degenerate during pregnancy uterine contour
o Degenerated fibroids more heterogeneous • Didelphys: Two separate uteri, each with
and variable in appearance its own cervix
• Hyperechoic with hemorrhage
12
6
UTERINE/CERVICAL MASS .•..•
c
~
c::
• Bicornuate: Concave or heart-shaped o Markedly vascular on Doppler images ,
Ul
o
~
external fundal contour o t Human chorionic gonadotropin (hCG)
• Septate: Fundus mildly convex to mildly levels <
)C.
concave o 12-15% of complete hydatidiform moles
• Adenomyosis progress to invasive mole
o Uterine enlargement without well-defined • Choriocarcinoma
mass o Suspect choriocarcinoma if t hCG after
o Usually seen in multiparous women any type gestational trophoblastic
o Very heterogeneous appearing with fine, neoplasia (hydatidiform or invasive mole)
linear areas of attenuation throughout the or any pregnancy (ectopic, abortion or
thickened wall ("rain shower" appearance) normal)
• Endometrium may be obscured o Uterine findings quite variable ranging
o Myometrial cysts (2-6 mm) in 50%, highly from normal to infiltrating heterogeneous
specific for diagnosis mass
o May be focal (adenomyoma) o Enlarged cystic ovaries (theca lutein cysts)
• May potentially be confused with fibroid o Lung, brain, liver metastases common
• Adenomyoma has an elliptical shape • Cervical Cancer
rather than round o Arises from squamocolumnar junction
• Poor definition of borders with 80-90% being squamous cell
• Color Doppler shows speckled pattern of • Adenocarcinoma and small cell are
increased vascularity, without peripheral majority of remainder (both have worse
draping vessels seen in leiomyomas prognosis)
o Most tumors exophytic in younger woman
o Cervical cancer appears as a hypoechoic
• Chorioangioma, Mimic
o Benign, vascular placental tumor
mass on ultrasound but can be easily
o Large ones may abut adjacent uterine wall
missed, especially in the early stages
o MR best imaging for staging
causing confusion with a uterine mass
o Most common on fetal side of placenta,
• Uterine Sarcoma
o Uncommon in women < 40 years old
near cord insertion
o Multiple histologic types including
Helpful Clues for Rare Diagnoses leiomyosarcoma, adenosarcoma,
• Invasive Mole malignant mixed mesodermal modality
o Echogenic cystic mass invading tumor
myometrium
Focal Myometrial Contraction Focal Myometrial Contraction
Axial ultrasound shows a "mass" = protruding into the

amniotic cavity. Note how it blends imperceptibly into =
Axial ultrasound 15 minutes later shows the contraction
has largely resolved.
12
the myometrial wall and that the outer surface of the
myometrium HI is only minimally distorted.
7
)(
.~ UTERINE/CERVICAL MASS
o .
Gl
11)
•..Gl
-
:l
:J Focal Myometrial Contraction leiomyoma

shows a contraction in=
the lower uterine segment,
which is distorting the inner
wall of the myometrium. II is
slightly hyperechoic
compared 10 the adjacenl
myometrium. II resolved by
the end of the study. (Right)
ultrasound shows a
leiomyoma 11IIII in the anterior
wall of the cervix. The
endocervical canal HI bows
posteriorly. Fibroids can
grow during pregnancy. and
if large enough. may
potentially obstruct labor.
leiomyoma leiomyoma
shows placental implantation
BII on a leiomyoma lID. The
external contour of the
uterus PJ:l is distorled,
helping 10 differentiate this
from a retroplacental
abruption, which does not
distort the external uterine
contour. (Right) Axial color
large, complex, cystic
leiomyoma lID adjacent to
an IUP BII. No internal flow
is seen on Doppler. A cystic
appearance is often
secondary to chronic
changes from necrosis.
Placental Abruption, Mimic Uterine Duplication

a hypoechoic acute blood
clot lID lifting the placenta
BII off the myometrium. A
distinct separate myometrial
wall is seen III which has a
normal contour. This rules
out a fibroid. Follow-up
ultrasound showed evolution
of the blood produc15.
(Right) Transverse
shows 2 separate cornua lID
with a gestational sac on the
right III Note the classic
heart-shaped external
contour typical of a
bicornuate uterus.
12
8
,..
c
UTERINE/CERVICAL MASS
..
CD
C
UJ
o
CD

<>C.
ultrasound shows a soft
of the uterus =.
tissue II mass" on the left side
next to the
left ovary III The fetus is on
the right E!il (Right) Coronal
oblique ultrasound focused
on the left side shows a
triangular echogenicity E!il
which is a second
endometrial cavity. There is
-=
a hypoechoic uterine septum
and a normal external
contour a typical of a
septate uterus.
Adenomyosis Chorioangioma, Mimic

shows a diffusely enlarged,
heterogeneous uterus with
linear reverberation artifacts
•. There is tiny fluid
collection" but the
endometrium ;s obscured so
it is dif(;cultto tell if this is an
early gestational sac versus a
myometrial cyst, which ;5
common with adenomyosis.
mass =
ultrasound shows a vascular
that is juxtaposed to
the uterine wall BI. The
mass is actually emanating
from the placenta" which
is posterior.
Invasive Mole Cervical Cancer

ultrasound of the uterus
shows heterogeneous
material with small cystic
spaces" which is invading
into the myometrium _
The hCG was markedly
elevated. Medical treatment
was successful. (Right)
Transverse ultrasound shows
a bulky cervical mass =.
Biopsy showed poorly
differentiated squamous cell
carcinoma. The majority of
cervical cancers in
reproductive age women are
exophytic and often difficult
to see with ultrasound.
12
9
SECTION 13
Maternal Conditions in Pregnancy
Uterine Size < Dates 13-2
Uterine Size> Dates 13-4
Antepartum Hemorrhage 13-6
Acute Abdomen in Pregnancy 13-10
Elevated MSAFP 13-14
Abnormal Beta HCG 13-18
Cesarean Section Complications 13-22
Adnexal Mass in Pregnancy 13-26
Breast Mass in Pregnancy 13-30
>.
u UTERINE SIZE < DATES
C
III
C
Cl
DIFFERENTIAL DIAGNOSIS • Bilateral renal anomaly
•..
Gl
ll. • Bladder outlet obstruction
C Common o Non-fetal causes
III
C • Intrauterine Growth Restriction (IUGR) • Placental insufficiency
o • Oligohydramnios
~ • Post-term pregnancy (> 42 wks)
't:l
C less Common • Premature rupture of membranes
o • Maternal dehydration
() • Fetal Demise
III o Idiopathic not common
•..
C
Gl Helpful Clues for less Common Diagnoses
••
III ESSENTIAL INFORMATION
:E • Fetal Demise
Key Differential Diagnosis Issues o Fetal death after 10 wks
• Fundal height (FH) vs. menstrual age (MA) o 6.9/1000 births in U.S.
o FH = clinical measurement from pubic o Maternal causes
symphysis to top of uterus • Prolonged pregnancy (> 42 wks)
o FH in cm = MA in wks • Diabetes (poorly controlled)
o FH is most accurate at 18-32 wks • Preeclam psia
o Ultrasound more accurate than FH • Antiphospholipid syndrome
Helpful Clues for Common Diagnoses o Fetal causes
• Intrauterine Growth Restriction (IUGR) • Multiple gestation
o Estimated fetal weight < 10th percentile • Intrauterine growth restriction
o Causes • Anomalous fetus
• Placental insufficiency • Infection
• Anomalous fetus o Other causes
• Intrauterine infection • Cord accident
o Doppler assessment • Abruption
• t Umbilical artery resistance • Vasa previa
• t Uterine artery resistance • Premature rupture of membranes
• t Ductus venosus resistance Other Essential Information
• ~ Middle cerebral artery resistance • Role of biophysical profile assessment (BPP)
o Associated with oligohydramnios o Helps identify fetal acidosis
• Oligohydramnios o Consider formal BPP in 3rd trimester with
o Fetal causes oligohydramnios &/or IUGR
• Bilateral renal agenesis
Intrauterine Crowth Restriction (IUCR) Intrauterine Crowth Restriction (lUCR)
13 Coronal oblique ultrasound shows oligohydramnios and

asymmetric IVCR. All measurements were small, but
Pulsed Doppler ultrasound of the umbilical artery in a
normal fetus with late onset IVCR shows reversal of
the body III was much smaller than the head !III. diastolic flow Bl The finding prompted early delivery.
Amniocentesis results showed triploidy.
2
UTERINE SIZE < DATES
-..
~
III
CD
::I
III
(')
o
Oligohydramnios ::I
Co
(Leh) Sagittal u/lrasound ;:;:
shows severe O·
::I
oligohydramnios in the 3rd III
trimester. AmnioinFusion ::I
with blue-tinted warm saline
was performed. (Right) Axial
..
"'ll
CD
CC
transvaginal ultrasound of
::I
the same fetus, after III
bladder =
amnioinfusion, shows a fetal
ruling out severe
bilateral renal anomalies as a
::I
n
'<
cause for the low lIuid. In
this case, the cause for the
oligohydramnios was
premature rupture of
membranes with slow leak
(diagnosed with the
amnioinfusion).
Oligohydramnios
(Leh) Sagittal u/lrasound
shows the absence of
amniotic fluid surrounding a
2nd trimester fetus in
cephalic lie = The uterine
size is less than expected
because of anhydramnios.
(Right) Coronal color
same fetus, after
amnioinfusion, shows
bilateral renal agenesis. The
aorta III is seen well, but no
renal arteries arise from it
The final diagnosis in this
case was VACTERL
association.

(Leh) Axial u/lrasound of the
calvarium of a 30 wk fetus
with in utero demise shows
oligohydramnios and
=
overriding calvarial sutures
also known as the
Spalding sign. The head is
misshapen secondary to
compressive forces from the
uterus. The cause for demise
was not determined in this
case. (Right) Axial
ultrasound shows skin
edema (calipers) in a fetus
who had immune hydrops
and died in utero. Anasarca
is a postmortem finding
regardless of cause of death.
13
3
>-
u UTERINE SIZE> DATES
C
l'll
C
Cl • Fetal gastrointestinal obstruction
•..
Gl DIFFERENTIAL DIAGNOSIS
ll. • Abnormal fetal swallowing
C Common • Abnormal fetal movement
III
C • Macrosomia • Hydrops
o • Polyhydramnios
~ • Multiple Gestations
"0
C
• Multiple Gestations o Determine chorionicity and amnionicity
o
() less Common • Best in 1st trimester
l'll
• Leiomyoma Helpful Clues for less Common Diagnoses
•..
-
C
Gl
l'll
Rare but Important • Leiomyoma
~ • Ovarian/Paraovarian Mass o Fibroids grow in first 20 wks of pregnancy
o Variable appearance
• Diffusely hypoechoic (most common)
ESSENTIAL INFORMATION • Complex, cystic from degeneration
Key Differential Diagnosis Issues • Calcified in older patients
• Fundal height (FH) vs. menstrual age (MA) o Complications with retroplacental myoma
o FH = clinical measurement from pubic • Abruption
symphysis to top of uterus • Preterm labor
o FH in cm = MA in wks • Intrauterine growth restriction
o FH most accurate at 18-32 wks Helpful Clues for Rare Diagnoses
o Ultrasound more accurate than FH • Ovarian/Paraovarian Mass
Helpful Clues for Common Diagnoses o Common
• Macrosomia • Hemorrhagic corpus luteum
o Estimated fetal weight> 90th percentile • Teratoma
o t Abdominal circumference (AC) is • Ovarian hyperstimulation
hallmark feature o Less common
o Associations • Paraovarian cyst
• Polyhydramnios • Theca lutein cysts (associated with
• Diabetes gestational trophoblastic neoplasia)
• Beckwith-Wiedemann syndrome • Ovarian neoplasm
• Polyhydramnios o Management
o 2/3 idiopathic • Surgery if mass is suspicious
o 1/3 with maternal or fetal cause • Optimal time is 14-18 wks
• Maternal diabetes • Emergent surgery for torsion
Macrosomia Polyhydramnios
13 Axial ultrasound shows a 41 week 6 day AC

measurement. The uterine fundal height was greater
Sagitml ultrasound shows excessive amnioUc fluid
leading to
El
increased uterine size. In this case, the
than expected for menstrual age of 38 weeks. Increased polyhydramnios was from fetal duodenal atresia. The
AC is a hallmark feature of macrosomia. fetal chromosomes were normal.
4
UTERINE SIZE> DATES
-..
3:
III
CD
:l
!!!.
o
o
:l
Multiple Gestations Multiple Gestations Co
(Left) Coronal TZWI MR ;::;:
shows a large uterus BI O·
:l
secondary to twins. The III
twinning is monochorionic
and diamniolic; in this case,
the MR was performed for
another reason. (Right)
..
:l
"t1
CD
CO
:l
Sagitlal ultrasound during the III
1st trimester. in another case :l
n
of twins, shows dichorionic '<
twinning. Two separate
gestational sacs with a thick
separating membrane !llIl is
seen. The uterine size =
was greater than expected
for menstrual age, and twins
were suspected at clinical
exam.
leiomyoma leiomyoma
(Left) Sagillal ultrasound in
the 1st trimester shows a 6
em posterior myoma
the uterus =
(calipers) that had elevated
out of the
pelvis. On clinical exam, the
uterus felt large for menstrual
dates. (Right) Sagittal
ultrasound of the uterus, in a
large myoma =
2nd trimester case, shows a
near the
fundus of the uterus. The
fundal height was greater
than expected for menstrual
dates. In addition, the fibroid
is retroplacental E!ll which
confers a greater risk to the
pregnancy.
Ovarian/Paraovarian Mass Ovarian/Paraovarian Mass

(Left) Sagitlal
shows a 9 em cyst Blthat
displaces the bladder !llIl in a
1st trimester pregnancy =.
Subsequently, the patient
presented with acute pain,
and paraovarian cyst torsion
was diagnosed at surgery.
(Right) Sagillaltransvaginal
ultrasound in a 5 week
pregnancy shows a
malignant pelvic mass
=
extending into the cul·de-sac
with thick septations !llIl
and papillary waif nodules
E!ll
13
5
>-
u
ANTEPARTUM HEMORRHAGE
c
ca
c
Cl
DIFFERENTIAL DIAGNOSIS o 5% of women have a low-lying placenta at
•..
G)
Q. 18 weeks
c Common o - 1% of them have placenta previa at term
III
C • Placental Abruption Helpful Clues for Common Diagnoses
o • Placenta Previa
~ • Placental Abruption
't:l • Marginal Sinus Previa
C o Abdominal pain, dark red vaginal bleeding
o
o Less Common o Look for hypo echoic blood clot near or
Cij • Placenta Accreta Spectrum behind placenta
•..
c
-
G)
ca
:E
Rare but Important
• Vasa Previa
o Marginal
• Hemorrhage from edge of placenta
• Can see raised edge in 50%
• Curvilinear clot near placenta
ESSENTIAL INFORMATION • Hemorrhage dissects under chorionic
Key Differential Diagnosis Issues membrane - clot at a distance from
• Defined as vaginal bleeding from 28 weeks placenta, look in front of cervical os
gestation until term o Retroplacental
o Many cases are idiopathic, though most • Central hematoma between placenta and
likely from placental bed uterus
o Non-placental causes (e.g., cervicitis, severe • Large detachment more likely than with
monilial infection) should be apparent on marginal abruption - t risk of fetal
clinical evaluation morbidity
• Typically lighter bleeding (e.g., smear of • Appears acutely as "placentomegaly"
blood-stained mucus) • Power Doppler delineates clot from
• Evaluation of placental location is important placenta
part of every obstetric scan o Preplacental
• Scan technique important for correct • Hematoma on fetal surface of placenta
diagnosis • Clot may compress cord
o Must see placenta and internal os in same • Placenta Previa
image o Painless, bright red vaginal bleeding
o If fetal parts or maternal habitus preclude o Symmetric complete placenta previa
visualization abdominally, perform • Placenta centrally implanted on cervix
transvaginal (TV) scans • Will not resolve with advancing
• Most effective method to visualize cervix pregnancy
o In patients with ruptured membranes o Asymmetric complete placenta previa
translabial (transperineal) scanning may be • Small part of placenta crosses internal os
helpful • May resolve with advancing pregnancy
• Scan from side to side and anterior to • If> 15 mm crosses internal os then less
posterior likely to resolve
o Lateral wrap placentae may have o Marginal: Placental edge within 2 cm of
low-lying/marginal insertion, which is not internal os

apparent on a true midline image • Gestational age> 20 weeks, TVUS done
o Use color Doppler to evaluate for vasa for maximal resolution
previa o Low-lying placenta
• Beware of full bladder, focal myometrial • Preferred term if < 20 wks and TVUS not
contraction done
o Spurious elongation of "cervix" - incorrect • Asymptomatic, majority resolve by 34
diagnosis of placenta previa weeks
• If low-lying placenta seen at mid-trimester • Marginal Sinus Previa
scan, re-image at 32-34 weeks with TV o Maternal placental veins at edge of solid
technique placenta, near or cross internal os
13
6
..'.."
~
lD
:l
o Do not confuse with vasa previa (fetal • 10% of patients with> 4 cesarean !!!.
vessels in membranes anterior to internal sections and no previa o
o
os) • 67% if previa and 4 prior C-sections :l
Co
Helpful Clues for less Common Diagnoses • Prior uterine instrumentation ;:;:
O·
:l
• Placenta Accreta Spectrum Helpful Clues for Rare Diagnoses (II
o Abnormal penetration of placental tissue

beyond endometrial lining of uterus
• Vasa Previa
o Fetal vessels running in membranes ..
:l
"tI
lD
o Look for crossing the internal cervical os CO
:l
• Loss of subplacental hypoechoic zone o Risk factors include
'o"
:l
• Placental sonolucencies ("swiss cheese • Placenta previa or low-lying placenta '<
appearance") earlier in pregnancy
• Abnormal vascularity of placenta • Multiple gestation
("tornado vessels") • Succenturiate lobe
• Breach of bladder mucosa seen as defect • Low-lying placenta
in echogenic line o Use transvaginal sonography and Doppler
• Use Doppler to look for large vessels in o Fetal arterial pulse confirms diagnosis
bladder wall o Indication for C-section prior to onset of
o Some series claim better resolution with labor
MR • If spontaneous rupture of membranes
• May be helpful to look for spread into tears fetal vessels, fetal exsanguination
broad ligament ensues
• Also helpful if there's history of other Other Essential Information
surgery that increases risk (e.g., posterior
• Placenta Accreta Spectrum
myomectomy) o Major cause of maternal and neonatal
o MR technique
morbidity
• Fast T2 weighted sequences o Maintain high index of suspicion in at-risk
• Full bladder patients
• Surgilube in vagina • Abruption can be a difficult diagnosis to
• Gadolinium not necessary make in acute stages
(contraindicated in pregnancy) o Negative imaging should not alter clinical
o Risk factors
management in suspicious cases
• Reported 5% risk with placenta previa,
no prior C-section
Placental Abruption Placental Abruption
Axial color Doppler ullrasound shows a subacute

marginal abruption with a hypoechoic clot =
dissecting beneath the membranes at the placental
subacute clot =
Sagiual color Doppler ullrasound shows dissection of
to the cervix I!lIll Abruption often
presents with dark red bleeding rather than bright red,
13
margin. fresh blood seen with placenta previa.
7
u
>- ANTEPARTUM HEMORRHAGE
c::
Cll
c::
Cl
l!!
Q.
c::
III
c:: (Left) Sagillaltranslabial
o ultrasound shows placenta
:e
"l:I PJiilI and subplacental vessels
o
c::
()
Cll
internal cervical os
coapted vaginal walls ElilI
=-
completely covering the
The
•..
c:: provide an acoustic window
-
Gl
Cll
~
to the cervix. (Right) Sagittal
ultrasound shows an
apparent placenta previa Ii\I
covering the cervical canal
ilia. A prominent contraction
ElilI in the lower uterus
caused spurious elongation
of the cervix. This is an
important pitfall, and other
sources of bleeding should
be sought.

(Left) Sagiual ultrasound
shows an anterior placenta.
The endocervical as is not
clearly seen, and the
apparent cervix III seems
abnormally long. It is not
clear if this is a placenta
previa V5. contraction that
creates the impression of
one. (Right) Sagittal
the same case clearly shows
that the placenta ElilI
completely covers the
internal as confirming
complete placenta previa.
The endocervical canal =::iI is
a/so seen.
Placenta Previa Marginal Sinus Previa

the typical location of a
complete, central placenta
previa PJiilI that completely
covers the endocervical 05
=::iI. (Right) Sagittal
images of the cervix show
the typical appearance of a
marginal sinus previa. The
marginal sinus vessels .-
encroach upon the internal
os ~ even though the solid
placental edge =::iI does not.
Color Doppler is very helpful
to confirm this diagnosis.
13
8
-
~
Ql
...~
(!)
Ql

(Left) Transvaginal
ultrasound shows an intact
echogenic bladder mucosa
•. however, there is only a
liny rim of hypoechoic tissue
Il!:I between it and the
placenta ED (Right) Axial
the same case shows that the
hypoechoic rim is composed
of subplacental vessels. The
palient had two prior
C-seclions. At surgery there
was placenta ;ncreta without
bladder invasion.
Placenta Accreta Spectrum

an anterior to right lateral
placenta with concern for
loss of myometrial rim I!!ID on
the right. Normal
subplacental hypoechoic
zone aD is seen anteriorfy.
(Right) Axial T2WI MR in the
same case confirms
suspicion for placenta
signal is absent =
percreta. The myometrial
along the
right lateral uterus, with only
a flow void Il!:I from a
parametrial vessel seen
where there should be
myometrium.
Placenta Accreta Spectrum Vasa Previa

(Left) Intra-operalive
photograph, in the same
case of placenta percreta,
shows placenta! invasion of
the broad ligament Il!:I with
dilated right-sided uterine
vessels =. There was also
bladder invasion (not
shown). (Right) Pulsed
fetal arterial flow in vessels
crossing the internal os,
confirming vasa previa. This
was associated with a
velamentous cord in this
case.
13
9
>-
u ACUTE ABDOMEN IN PREGNANCY
c:
nI
c:
..
l:Il
Ql
ll.
DIFFERENTIAL DIAGNOSIS • Same anatomic features as seen with US
or CT
c: Common • Renal Stone Disease
III
c: • Placental Abruption o Collecting system dilatation
o • Appendicitis o Ureteric dilatation, particularly suspicious
:e
't:l
c: • Renal Stone Disease for stone if dilatation stops abruptly
o • Pyelonephritis • Physiologic dilatation tapers at pelvic
u
•....
iii • Cholecystitis brim
c:
Ql Less Common o Look for ureteric jets with color Doppler
nI
• Torsion • Have patient in decubitus position with
:::IE
• Fibroid Degeneration side of concern elevated
• Trauma o Measure intrarenal resistive indices (RI)
• Physiologic caliectasis does not cause
Rare but Important elevated RI
• Uterine Rupture • Look for difference of> 0.1 side-to-side
• HELLPSyndrome • Not specific for renal stone disease, as
can also be seen with other other acute
ESSENTIAL INFORMATION renal conditions
o Coronal MR, with heavily T2 weighted
Helpful Clues for Common Diagnoses sequences, shows stones as low signal
• Placental Abruption filling defects within column of high
o Difficult diagnosis to make signal urine
sonographically: Occult in up to 50% of • Pyelonephritis
cases o US
• Acute clot is isoechoic to placenta, no • Enlarged kidney ± parenchymal edema
flow on Doppler evaluation • Look for complicating conditions such as
• Clot may be marginal, preplacental, abscess or pyonephrosis (an obstructed,
retroplacental infected system), which require drainage
• Appendicitis oCT
o Appendix is displaced out of pelvis by • Delayed ± striated nephrogram
enlarging gravid uterus • Focal areas of diminished enhancement
o US on delayed images
• Blind ending, non-compressible tube • Cholecystitis
• Diameter> 6 mm o Gallstones
• Look for appendicolith: Echogenic focus o Gallbladder wall thickening
with distal acoustic shadowing o Pericholecystic fluid
• May see echogenic periappendiceal fat o Positive sonographic Murphy sign
from inflammation o Remember that right upper quadrant pain
• May see focal fluid collection if ruptured and abnormal liver function tests may be
• EV sonography very helpful when seen in preeclampsia
appendix drops into pelvis, behind
pregnant uterus Helpful Clues for Less Common Diagnoses
oCT • Torsion
• Same anatomic features o Adnexal mass can undergo torsion in
• More sensitive for focal perforation, pregnancy
presence of appendicolith, inflammation o Maximum risk at 12-14 weeks and
of fat immediately postpartum
oMR o Look for
• Increasingly used if US non-diagnostic as • Ovarian or paraovarian mass as lead
no ionizing radiation point
• T1, T2, T2 FS sequences (Gadolinium • Echogenic stroma, ovarian enlargement,
contraindicated in pregnancy) peripheral follicles from edema
13
10
ACUTE ABDOMEN IN PREGNANCY ~
• Hemorrhage/necrosis/infarction • Maternal hypotension ...•decreased

..
..•.
III
CD
:l
!!!.
o Use Doppler to assess flow placental perfusion o
o
• Lack of venous flow most suspicious • Most fetal ischemic injury takes time to :l
Co
finding be visible on imaging ;::;:
• Documentation of flow does not exclude • Wait 10-14 days post injury and consider
o·
:l
UI
the diagnosis in presence of strong performance of fetal MR to look for :l
clinical suspicion or other imaging intracranial hemorrhage, ischemic
findings of concern encephalopathy "iil
CQ
• Fibroid Degeneration Helpful Clues for Rare Diagnoses
:l
III
:l
o Larger fibroids at greater risk for acute red (')
• Uterine Rupture '<
(hemorrhagic) degeneration
o Most common in labor, uterus ruptures at
• Severe abdominal pain may mimic site of old hysterotomy site
abruption
o May be a complication of abdominal
• Often requires narcotic analgesia for trauma
control
o Look for disrupted myometrium,
o Inhomogeneous echoes in center of fibroid
continuity of extrauterine fluid with
o No flow in inhomogeneous area on
endometrial cavity
Doppler interrogation
• HELLP Syndrome
o Placental implantation over large fibroid
o Patients present with preeclampsia and
carries increased risk for abruption
progress to more severe condition with the
• Look for changes of abruption, as well as following
fibroid degeneration, in setting of acute
• Hemolysis
pain
• Elevated Liver function tests
• Trauma • Low Platelets
o Imaging evaluation should not be
o Low platelets ...•t risk of spontaneous bleed
compromised because the patient is ...•subcapsular liver hematoma
pregnant
o When feasible, limit radiation exposure, or Other Essential Information
use US/MR if possible • Fetal well being depends on maternal well
o Fetus at significant risk even if maternal being
injuries seem relatively minor • Do not compromise evaluation because of
• Placental shear injury ...•abruption, pregnancy
infarction
Placental Abruption Placental Abruption
Sagittal ultrasound at 22 weeks shows a wide open

cervix 11III and extensive intrauterine clot • from an
Axia/ T2W/ MR shows a retrop/acenta/ abruption
a patient with pelvic fractures due to a car crash. The
13
abruption. Preterm labor ensued, complicated by MR was performed to confirm sonographic findings of
disseminated intravascular coagulopathy. fetal ischemic brain injury.
11
>-
u
ACUTE ABDOMEN IN PREGNANCY
c:
III
c:
CI
•..
Gl
11.
c:
III
c: (Leh) Transvaginal (TV)
o
::; color Doppler image shows a
:c hyperemic, blind-ending,
c: tubular structure surgically
o
o confirmed to be an inflamed
appendix. TV sonography is
III
•..
c:
Gl
helpful if the pain localizes
deep in the pelvis. (Right)
••III Ultrasound shows the typical
:::IE appearance of appendicitis
using a high frequency linear
transducer at the site of
maximum tenderness. This
was a non-compressible,
blind-ending, tubular
structure III that contained
an appendicolith _
Renal Stone Disease

ultrasound shows an
echogenic focus 1m in the
lower pole of the right
kidney in a patient with pain
suggestive of renal colic.
Subsequent images (not
shown) confirmed a stone
obstructing the dilated ureter
61. (Right) Ultrasound
shows edema and loss of
corticomedullary
differentiation in the
transplant kidney" This
patient was admitted with
systemic CMV infection, as
well as bacterial
pyelonephritis.
Torsion
gallstones" gallbladder
wall thickening HI. and
pericholecystic fluid. in a
patient with a positive
sonographic Murphy sign,
indicating acute cholecystitis.
ultrasound shows a
paraovarian cyst. beside
an enlarged lefl ovary 1m
with no deteelable flow on
Doppler. Multiple
peripherally located follicles
HI are a sign of torsion.
Pathology showed adnexal
torsion with a
paramesonephric duct cyst.
13
12
ACUTE ABDOMEN IN PREGNANCY ~
..•..
III
CD
::::I
!!!.
(')
o
::::I
Fibroid Degeneration Fibroid Degeneration Co
(Left) Ultrasound shows ;::;:
mixed echogenicity in a
()"
::::I
transmural (ibroid (calipers) en
in the second trimester. The ::::I
patient was (ocally tender "tl
over the fibroid and required ~
narcotics for pain control. CD
::::I
(Right) Ultrasound shows the III
fetus helpfully pointing to the
::::I
n
cause of its mother's pain! '<
This patient had multiple
admissions to the hospital
with severe abdominal pain
that localized to this fibroid
=-
Trauma Trauma
(Left) Axial CECT shows a
large liver laceration PJ:Iil with
active extravasation of
contrast E::E in a pregnant
patient involved in a high
speed motor vehicle crash.
(Right) Axial CECT shows a
fetal rib fracture PJ:Iil and
placenta =-
large areas of nonenhancing
with an area of
active extravasation ED in
the placental bed. The fetus
was dead on arrival. The
mother survived severe solid
organ injuries.
Uterine Rupture HEllP Syndrome

(Left) Sagittal oblique CECT
shows the fetal hand !Ill
extending through a defect
• in the anterior
myometrium ED at the site of
prior hysterotomies. The
patient had had eight prior
C-sections. (Right) Axial
CECT in a woman with
I-/ELLPsyndrome shows a
dramatic subcapsular
hematoma. exertingmass
effect on the liver
Spontaneous subcapsular
bleeding is attributed to the
low platelet count in this
condition.
13
13
ElEVATED MSAFP
DIFFERENTIAL DIAGNOSIS o Fetal anomalies

• Any anomaly with t fetal internal organ
Common exposure to amniotic fluid
• Open Neural Tube Defect o Placental abnormalities
oSpina Bifida • Primarily from fetal-placental
o Exencephaly, Anencephaly hemorrhage
o Encephalocele • Fetal levels 100,000 times> maternal
III • Abdominal Wall Defect • Small hemorrhage easily causes t MSAFP
•..
-
C
G)
o Gastroschisis
III o Omphalocele Helpful Clues for Common Diagnoses
::E o Body Stalk Anomaly • Open Neural Tube Defect
• Multiple Gestations oSpina Bifida
• Bony vertebral defect + neural content
less Common exposure to amniotic fluid
• Perigestational Hemorrhage • 73% lumbar
• Fetal Demise • 17% sacral
• Placental Insufficiency • 9% thoracic
Rare but Important • 1% cervical
• Maternal Tumors • 80% with overlying sac
• Almost all with Chiari II malformation of
brain
ESSENTIAL INFORMATION • 14% with aneuploidy
Key Differential Diagnosis Issues o Exencephaly, Anencephaly
• Alpha fetoprotein (AFP) • Absent calvarial vault
o Normally produced from several sources in • Variable amount of supratentorial brain
developing fetus • Brain exposed to amniotic fluid, which
• Yolk sac erodes neural tissue and leaves
• Fetal gastrointestinal tract angiomatous stroma
• Fetal liver • Face: Proptotic eyes, cleft lip/palate
o Circulation of AFP o Encephalocele
• Fetus '* amniotic fluid '* maternal serum • Herniation of intracranial structures
• Maternal serum alpha fetoprotein (MSAFP) through skull defect
test . • Occipital most common
o Drawn at 15-20 weeks menstrual age • Parietal, vertex, frontal more rare
• Part of genetic screening • Associations: Trisomy 13, trisomy 18,
• Screening for anomalies (spina bifid a) Meckel-Gruber syndrome
o Adjusted for maternal factors • Look carefully for other anomalies
• Weight • Abdominal Wall Defect
• ± Diabetes o Gastroschisis
• Ethnicity • Bowel herniation through right
o MSAFP results paramedian defect
• Reported as multiples of the median • Normal cord insertion
(MOM) • No covering membrane
• > 2-2.5 MOM considered positive screen • Progressive bowel dilatation often seen
• Reasons for positive MSAFP screen results • Intrauterine growth restriction (IUGR)
o Incorrect menstrual dates (20%) common in 3rd trimester
• Recalculate result after ultrasound • Almost all with t MSAFP
o Unsuspected multiple gestations o Omphalocele
• Twin MSAFP = approximately twice • Herniation of abdominal contents into
singleton values base of umbilical cord
• Use of MSAFP screening in known • Midline abdominal wall defect
multiple gestation is controversial • Most often involves liver
13
14
ELEVATEDMSAFP
• Covering membrane present (difficult to Helpful Clues for Less Common Diagnoses
see early, without ascites) • Peri gestational Hemorrhage
• 70% with t MSAFP (30% normal MSAFP) o Placental detachment
• 30% with aneuploidy • Blood primarily accumulates in
• Omphaloceles that contain only bowel subchorionic space
more associated with aneuploidy • Bleed into placenta or amniotic fluid also
o Body Stalk Anomaly occurs
• Fetal evisceration • Mix with maternal blood => t MSAFP
• Visceral organs attached to placenta o Hematoma appearance is variable
• Short or absent umbilical cord • Initially isoechoic to placenta
• No covering membrane • Becomes more hypoechoic with time
• Scoliosis is prominent feature • Eventually anechoic and resolves
• Amniotic bands seen in 40% o Often no hematoma seen at time of t
o Other abdominal wall defect diagnoses MSAFP or screening ultrasound
• Pentalogy of Cantrell • Fetal Demise
• OEIS syndrome o Tissue break down causes t MSAFP
• Bladder/cloacal exstrophy o Look for anomalies to explain demise
• Multiple Gestations • Placental Insufficiency
o Determine chorionicity/amnionicity o Unexplained t MSAFP may present with
o Dichorionic diamniotic twins IUGR, likely from subclinical placental
• Most common type of twins hemorrhage
• 2 placentae o Follow-up for growth, fluid, and Doppler
• "Twin peak" if adjacent placentae • IUGR often late onset
• Thick separating membrane • Associated with oligohydramnios
o Monochorionic diamniotic twins
• Single placenta Helpful Clues for Rare Diagnoses
• No "twin peak" sign • Maternal Tumors
• Thin separating membrane o Yolk sac ovarian tumor
• Twins are same gender o Hepatocellular carcinoma

o Monochorionic monoamniotic twins Other Essential Information
• Single placenta • t MSAFP and amniocentesis
• No separating membrane o Not routinely performed
• Rarely conjoined o Anomalies associated with t MSAFP are
seen well with ultrasound
Spina Bifida
Sagillal T2WI MR shows a meningomyelocele

involving the lumbo-sacral spine. Exposure of fetal
=. Gross pathology of a second trimester fetus with
myeloschisis shows the open neural tube defect In =. 13
neurallissue to amniotic fluid results in elevated levels of this case, there is no meningomyelocele sac.
AFP in the amniotic fluid and maternal serum. 15
>-
u ElEVATED MSAFP
c
Cll
C
Cl
•..
Gl
ll.
C
III Encephalocele
C (Left) 30 ultrasound shows
o anencephaly in a 17 week
;;: fetus. The orbits are
'tI
C proptotic El!l and there is no
o calvarium superior to the
(.)
"iii face. The 30 reconstruction

•..
c image shows brain tissue ilia
in direct contact with
••GlCll amniotic fluid. (Right) Axial
:::IE transvaginal ultrasound of
another second trimester
fetus shows an occipital
calvarial defect Ell and
of brain and meninges

through the defect.
=
herniation of a large amount
Gastroschisis Omphalocele
performed to evaluate a
uterine septum ~ shows
free floating bowel ~ in a
fetus with known
gastroschisis. MR nicely
demonstrates the direct
contact between fetal bowel
and amniotic fluid, leading to
t MSAFP levels. (Right) Axial
another case shows a large
median abdominal wall
liver=-
defect and extra-corporeal
A small portion of
the covering membrane BI
is seen. This fetus had
trisomy lB.

shows {etal evisceration. The
bowel Ell is outside of the
is seen =.
body, and an amniotic band
The fetal
anatomy was difficult to
assess as most of the
intra-abdominal and chest
contents were
extracorporeal. (Right) Axial
shows the fetus intimately
associated with the placenta
cord =
!:l. In addition, the umbilical
is short and
"clumped". The fetus also
had scoliosis and extremity
defects.
13
16
ELEVATED MSAFP
-
~
III
~
..,
:l
2!.
o
o
Multiple Gestations :l
Multiple Gestations Q.
(Left) 3D ultrasound shows ;::;:
dichorionic diamniotic twins O·
membrane =
with a thick separating
ultrasound shows
(Right) 3D
:l
Ul
:l
..,"'ll
monochorionic diamniotic ~
twins. A thin separating CC
:l
membrane was seen with 20 III
ultrasound but was not :l
n
resolved with 3D ultrasound. '<
Unsuspected twins account
for 10% of t MSAFP cases.
Peri gestational Hemorrhage perigestational Hemorrhage

shows detachment of the
inferior placenta 11:I and a
=
large perigestational bleed
Subchorionic blood can
mix with maternal blood and
lead to t MSAFP levels.
hemorrhage =
shows a large perigestational
with a
fluid-fluid level Ell A second
smaller hemorrhage 11:I is
also seen. Despite such
impressive placental
hemorrhage, the pregnancy
advanced normally.

ultrasound shows a
liver-containing omphalocele
lID in a second trimester
fetus presenting with t
MSAFP and fetal demise. A
search for {etal anomalies is
recommended, if possible,
when demise is diagnosed.
Chromosome analysis in this
case was unsuccessful.
sutures =
shows overlapping calvarial
the Spalding
sign, in a twin case
complicated by demise of
twinB.
13
17
>-
u ABNORMAL BETA HCG
C
III
C
Cl
l!! DIFFERENTIAL DIAGNOSIS • Echogenic fluid in a pregnant patient has
Q. a 90% positive predictive value for
c Common ectopic pregnancy
III
C • Imprecise Menstrual Dates o Look for ring-like mass separate from ovary
o
::: • Multiple Gestations • May have yolk sac or embryonic pole
'6 • Ectopic Pregnancy
c with or without cardiac activity
o • Retained Products of Conception (RPOC)
U o "Ring of fire": Increased flow seen in
III Less Common trophoblastic tissue around ectopic
•.
•..
C
Gl
III
~
• Complete Hydatidiform Mole
• Trisomy 21
• Do not confuse with increased flow
around corpus luteum
• Trisomy 18 o Amorphous adnexal mass may be due to
hematosalpinx or clot adherent to
Rare but Important
ruptured tube
• Invasive Mole o Pseudogestational sac sign
• Choriocarcinoma • Decidual cast surrounds fluid collection
• Embryonic/Fetal Demise central in endometrial cavity
• Lacks double decidual sac sign of normal
ESSENTIAL INFORMATION intrauterine pregnancy
• Retained Products of Conception (RPOC)
o Residual trophoblastic tissue continues to
• Imprecise Menstrual Dates produce beta hCG
o Maternal serum screening provides
• Levels do not fall to 0 as expected
numerical risk for certain conditions based • If levels remain elevated> 4 months post
on expected levels of certain hormones delivery, consider persistent gestational
• Levels reported as multiples of the trophoblastic neoplasia
median (MOM) for gestational age o Solid, heterogeneous, echogenic mass in
• Incorrect menstrual data - incorrect endometrial cavity
gestational age assessment at time of o Persistent, thickened endometrium
blood draw - spurious t or ~ of levels o Irregular interface between endometrium
o All patients with abnormal serum screen
and myometrium
should have ultrasound as next step o May see high velocity, low resistance flow
• Verify gestational age
• Look for sonographic signs of aneuploidy Helpful Clues for Less Common Diagnoses
o If dates are incorrect, risk often • Complete Hydatidiform Mole
recalculated or test redrawn o No embryo or fetus
• Multiple Gestations o Beta HCG markedly elevated
o Maternal serum hormone levels are higher o Enlarged uterus with "swiss cheese"
in multiple than singletons endometrium
• Greater amount of fetal tissue per • Heterogeneous, echogenic intrauterine
gestational age week mass
• Ectopic Pregnancy • Completely fills uterine cavity
o Ectopic pregnancies are not normal • Individual cysts that vary in size can be
pregnancies seen
• Beta hCG often lower than for • Mass is vascular with high velocity, low
corresponding gestational age (GA) in a impedance flow (mean resistive index of
normal early pregnancy 0.55)
• Normal "doubling" of beta hCG every 48 o Bilateral, complex theca lutein ovarian
hours in early pregnancy may not occur cysts in 25-50%
o Tubal ectopic is commonest type • Trisomy 21
• No intrauterine pregnancy + tubal mass + o High beta hCG associated with low
echo genic cul-de-sac fluid unconjugated estriol, alpha fetoprotein
o First trimester ultrasound findings
ABNORMAL BETA HCG
• Increased nuchal translucency, absent • May be no detectable uterine mass

nasal bone, abnormal ductus venosus o Bilateral ovarian theca lutein cysts
flow o Metastatic disease patterns
o Second trimester ultrasound findings • Lung, brain, liver metastases common,
• Increased nuchal fold, short often large and heterogeneous
femur/humerus, duodenal atresia, • Brain metastases often hemorrhagic
atrioventricular septal defect • Irregular pulmonary nodules with
• More minor finding include echogenic surrounding halo of ground glass
bowel, mild pyelectasis, mild secondary to hemorrhage
ventriculomegaly, echogenic intracardiac o Absence of villous pattern on
focus histopathology, in contrast to complete
• Trisomy 18 hydatidiform or invasive mole
o Low beta hCG associated with low • Embryonic/Fetal Demise
unconjugated estriol, alpha fetoprotein o Failed first trimester pregnancy associated
o Multiple anomalies, intrauterine growth with low beta hCG levels for GA or
restriction inadequate increase in levels
o Look for failure to meet normal early
pregnancy milestones on transvaginal
• Invasive Mole
ultrasound
o Echogenic, cystic mass filling uterus and
• Yolk sac must be seen when mean sac
invading into myometrium
diameter (MSD) > 10 mm
o Foci of invasive tumor "light up" with
• Embryo must be seen when MSD > 18
color Doppler
mm
oMR
• Cardiac activity must be seen when
• Heterogeneous, intermediate signal mass
embryo> 5 mm
• Disruption of uterine zonal anatomy on
o Look for other signs of failed/failing
T2WI
pregnancy
• Tumor enhances with gadolinium
• Empty amnion
• Choriocarcinoma
• Poor decidual reaction
o Malignant gestational trophoblastic
• Abnormal sac shape or size
neoplasia
• Size smaller than expected
• Distinguished from invasive mole by its
• Less than expected interval growth
tendency to metastasize
• Embryonic bradycardia
o Uterine findings quite variable
Imprecise Menstrual Dates Multiple Gestations
Axial transvaginal ullrasound shows a small gestaUonal

sac with a yolk sac =:Iand embryo R The paUent had
Axial oblique ullrasound shows dichorionic !wins wilh
one gestational sac !1m in each horn =:I in a patient
13
irregular cycles, and the hCC was less than expected for with uterus didelphys.
LMp, but concordanl with sac size.
19
>-
CJ ABNORMAL BETA HCG
c:
"'
c:
Cl
•..
CII
Q.
c:
Multiple Gestations
1Il
c: (Left) SagilCal ultrasound
o shows trichorionic triple15,
~ with demise of the embryo in
'1J
c: the smallest sac 11:I. Beta
o hCC is greater than expected
(.)
in mulliple gestations. (Right)
"'c:•.. Transvaginal ultrasound
-"'
~
CII shows an amorphous
adnexal mass 11:I adjacent
the uterus (UT) and ovary
(OV). The ovary contains a
10
simple cyst _ likely a

corpus luteum cyst In
eClOpic pregnancy, the HCC
is usually lower than
expected and does not
double appropriately.
Retained Products of Conception Retained Products of Conception

(RPOC) (RPOC)
(Left) Sagi!!al oblique color
hyper vascular, echogenic
material ilia in the uterus,
typical for RPOC. Lack of
flow, however, does not
exclude the diagnosis.
ultrasound in a postpartum
woman with bleeding shows
a large amount of mixed
echogenicity material =:II in
the uterus. Dilatalion and
cure!!age confirmed RPOC.
Trophoblaslic lissue will
continue to produce HCC
even after delivery of the
infant

a multicystic mass
completely Filling the uterus
(calipers). The patient
presented with vaginal
bleeding and had markedly
elevated levels of beta hCC,
typical for complete
hydatiform mole. (Right)
Axial color Doppler
ultrasound shows increased
flow in the surrounding
myometrium. The mass _ is
well circumscribed, with no
features to suggest
myometrial invasion.
13
20
ABNORMAL BETA HCG
-
3:
III
..,
CD
~
III
C')
o
Trisomy 21 Trisomy 18 ~
Co
(Left) Sagillal ultrasound ;:;:
shows an increased nuchal 15"
~
translucency measuring 3.2 III
mm in a patient with high ~
beta hCG, associated with
low un conjugated estriol and
..,
'll
CD
alpha fetoprotein. Trisomy CC
~
21 was confirmed by III
chorionic villous sampling. ~
n
(Right) Axial ultrasound '<
shows a
"slrawberry-shaped" head in
a fetus with low beta HCG,
associated with low
unconjugated estriol and
alpha fetoprotein.
Amniocentesis confirmed
trisomy /B.
Trisomy 18 Invasive Mole

(Left) Ultrasound with the
corresponding clinical
photograph shows a
clenched hand with
overriding second finger B
a characteristic finding in
trisomy /B. (Right)
Transvaginal ultrasound with
color Doppler shows a
hypervascular mass IIllI filling
the uterus and invading the
myometrium!l!:l. The patient
had persistently elevated
beta hCG following a
spontaneous abortion.
Choriocarcinoma Embryonic/Fetal Demise

(Left) Axial T1WI MR with
fat-saturation
post-gadolinium
administration shows intense
enhancement around an
intrauterine soft tissue mass
1IllI. The patient had an
elevated beta hCG and lung
metastases. (Right) M-mode
ultrasound shows demise
with loss of cardiac activity
in an embryo that had been
seen alive on an earlier scan.
Failure of beta hCG levels to
double every 4B hours in
early pregnancy is associated
with poor outcomes,
including demise.
13
21
~ CESAREAN SECTION COMPLICATIONS
C
l'lI
C
Cl • Percreta: Penetration of chorionic villi
CD
"-
a.. through uterine wall
c Common o Loss of subplacental hypoechoic zone
III
C • During Pregnancy • Should normally be present over entire
o o Placenta Accreta Spectrum
:;:: placental surface
'6
c o Dehiscence • Hypoechoic zone may be difficult to see
o o Uterine Rupture when placenta is anterior
o
ftj • Postpartum • Switch to high resolution transducer
•.::E
c
"-
CD
l'lI
o Bladder Flap Hematoma
o Endometritis
o Placenta previa present in almost all cases
o Thinning of underlying myometrium s 2
o Normal Cesarean Section Scar (Mimic) mm can be a sign of placental invasion
Less Common o "Swiss cheese" placenta
• Uterine Rupture, Delayed • Multiple hypoechoic placental vascular
• Cesarean Section Scar Ectopic lacunae ("tornado-shaped" vessels)
• Endometrioma in Cesarean Section Scar • Better positive predictive value than loss
of subplacental hypoechoic zone
o Interruption of bladder wall-uterine
ESSENTIAL INFORMATION interface
Key Differential Diagnosis Issues • Normal bladder mucosa is echogenic
• During pregnancy • Large vessels, or nodularity, extending
o Determine history of prior cesarean section through bladder wall can be seen with
(C-section) percreta
o Visualize lower uterine segment • Dehiscence
• Confirm hypo echoic myometrial layer o Incomplete rupture: Disrupted
present myometrium but intact serosa
• Risk of rupture/dehiscence increases as • Loss of hypoechoic myometrial layer
lower uterine thickness decreases • Usually at site of prior C-section
• Myometrium absent if uterine o In pregnancy, patient may be followed
rupture/dehiscence has occurred carefully to allow fetus to mature

o Document placental location • Delivery indicated for any sudden pain
• Placenta previa associated with accreta • Reports of successful repair and
spectrum in 5% of cases continuation of pregnancy
• Take care to show preservation of o MR may be helpful to assess for location
subplacental hypoechoic zone if and size of dehiscence
implantation on the C-section scar • Uterine Rupture
• Use Doppler liberally to assess for o Full thickness tear of uterine wall
abnormal vascularity • May occur during pregnancy, labor, or
• Postpartum puerperium
o Immediate postoperative complications • Highest risk in patients with history of
often difficult to differentiate due to gas C-section
and edema in soft tissues from delivery o Focal discontinuity of the myometrium at
o Healed C-section scar normally associated rupture site

with focal mild thinning of myometrium • Usually anterior lower uterine segment
or site of prior myomectomy
Helpful Clues for Common Diagnoses • Fetal parts and fluid in peritoneal cavity
• Placenta Accreta Spectrum o During labor, imaging rarely performed as
o Abnormal penetration of placental tissue
patient is emergently delivered operatively
beyond endometrial lining of uterus • Simultaneous maternal-fetal distress
• Accreta: Attached to myometrium. • Risk of rupture during spontaneous labor
without muscular invasion with prior C-section '" 5/1,000
• Increta: Chorionic villi invading
myometrium
13
22
CESAREAN SECTION COMPLICATIONS
....
~
III
CD
:l
o In setting of trauma, CT useful ...•look for • Doppler ultrasound shows an avascular III
maternal solid organ injury also collection of fluid o

o
• Bladder Flap Hematoma :l
Helpful Clues for less Common Diagnoses Co
o Hypoechoic clot at site of C-section on ;:;:
• Uterine Rupture, Delayed O·
serosal surface o Postpartum full thickness tear of uterine
:l
III
• Between lower uterine segment and wall :l
bladder wall • Following delivery, especially if patient "tI
• Endometritis iil
had vaginal birth after prior C-section CC
:l
o Most commonly occurs after delivery or III
• Due to incompletely treated endometritis :l
termination • After uterine instrumentation with a n
'<
• Associated with postpartum fever and chronic healed scar
pelvic pain o Myometrial defect can be seen with
o Endometrium may appear normal or have
ultrasound, CT, or MR
nonspecific findings • If the patient presents with an acute
• Thickened, heterogeneous endometrium abdomen, CT may be initial imaging
• Echogenic foci of gas in endometrial modality to exclude other etiologies
cavity can be seen but also commonly o Look for free intraperitoneal fluid or
related to delivery hemorrhage
• Large amount of echogenic fluid • Cesarean Section Scar Ectopic
concerning for pyometra o Eccentric sac within the anterior
o Retained products of conception (RPOC) is
myometrium at site of C-section scar
a risk factor • Minimal or no myometrium between sac
• Sonographic appearance of RPOC and bladder
overlaps with endometritis
• Empty uterine cavity
• Use Doppler to check for vascularity o Color Doppler shows marked
within endometrial contents peri trophoblastic flow around ectopic sac
• Normal Cesarean Section Scar (Mimic) o High risk for uterine rupture and massive
o Focal triangular or wedge-shaped defect in
bleeding if untreated
myometrium • Endometrioma in Cesarean Section Scar
• Anterior lower uterine segment o Homogeneous, hypoechoic mass in
o Small amount of fluid in scar is normal
C-section scar
• Cystic-appearing C-section scar o History of endometriosis
• May be confused with ectopic gestational
sac in early pregnancy
Gross pathology shows a cesarean hysterectomy

specimen with placenta IllEI extending through the
Sagittal color Doppler ultrasound shows no
myometrium deep to the placenta in a patient with a
13
myometrium lID in the area of prior C-section. prior C-section. Note lucent areas Ei:I and large vessels
IllEI extending into the bladder wall.
23
>-
u CESAREAN SECTION COMPLICATIONS
C
nI
C
Cl
•..
Gl
ll..
C
Dehiscence
en (Left) Coronal T2WI MR
C
o shows a partial placental
E implantation on the
'0
o
C
o =-
C-section scar toward the left
No visible myometrium
is seen in this area. Placenta
nI
•..
C increta was seen on histology
at time of cesarean
••GlnI hysterectomy. (Right)
:IE Coronal T2WI MR shows a
34 week fetus with scar
tissue near the site of prior
C-section Toward the
left, there is 1055 of the
already thinned myometrium
m suspicious for a uterine
window. The bladder is
deviated leftward ED
Dehiscence Dehiscence
(Leh) Sagittal
shows thin or absent anterior
myometrium in the lower
uterine segment 111. The
cervix is marked by calipers.
patient shows that the
uterine serosa III and
bladder mucosa ED form 2
echogenic lines. There is
discontinuity of the anterior
lip IlI!I of the cervix with the
lower uterine segment
myometrium. Calipers
denote the endocervical
canal.
Uterine Rupture Bladder Flap Hematoma

photograph shows the fetal
hand ED extending out of a
ruptured C-section scar
No hysterotomy had been
=.
made; the hand had
spontaneously poked
through the rupture site.
ultrasound shows c/ot in the
uterine cavity ED following
C-section delivery. Adjacent
to the incision site PIa. there
is an external hypoechoic
hematoma (calipers). The
bladder is partially seen =-
13
24
..-
CESAREAN SECTION COMPLICATIONS ~
DI
CD
:l
~
o
o
Endometritis Normal Cesarean Section Scar (Mimic) :l
Co
(Left) Sagittal ultrasound of a ;::;:
patient with clinical <5'
:l
endometritis shows a UI
distended endometrial cavity 5'
filled with heterogeneously
echogenic debris Ell.
Endometritis can be a
..
'tl
CD
CC
:l
complication after either DI
vaginal or C·section delivery. :l
n
(RighI) Sagittal ultrasound '<
shows the typical
appearance of a healed
C·seclion scar in the lower
uterine segment. There is
tenting of the endometrial
cavity at the scar III with a
focal narrowing of the
myometrium •.
Normal Cesarean Section Scar (Mimic) Uterine Rupture, Delayed

(Lefl) Sagittal T2WI MR
shows a healed C-section
scar with a contained fluid
collection This is often
Seen incidentally when
imaging the uterus
postpartum & does not
indicate dehiscence. It
a nabothian cyst, which
occurs in the cervix. (RighI)
myometrial defect in the
anterior lower uterine
segment El Clot extends
anterior to the uterus
communicating
=-
freely with
the endometrial cavity 1!ll!I.
Cesarean Section Scar Ectopic Endometrioma in Cesarean Section Scar

shows a gestational sac BI
implanted within a C-section
scar. The decidualized
endometrium 111 is seen
centrally within the uterus.
(RighI) Axial transvaginal
ultrasound shows a
homogeneous, hypoechoic
mass (calipers) at the site of
a C-section scar. Although
the appearance is similar to a
fibroid, the patient had a
history of endometriosis, and
this proved to be an
endometriotic implant within
the C·secLion scar.
13
25
ADNEXAL MASS IN PREGNANCY
• If in the right lower quadrant, assess for

appendicitis/appendiceal abscess
Common • Adnexal mass in 1st trimester
• Corpus Luteum Cyst o Could this be an ectopic or heterotopic
• Teratoma pregnancy?
• Theca Lutein Cysts o Correlate with any history of in vitro
Less Common fertilization or reproductive assistance

• Other Ovarian Masses Helpful Clues for Common Diagnoses
o Endometrioma • Corpus Luteum Cyst
o Cystadenoma o May be anechoic or hemorrhagic
o Epithelial Ovarian Carcinoma • Commonly complicated by hemorrhage
o Sex-Cord Stromal Tumor o Can have thick, vascular, hyperechoic cyst
• Non-Ovarian Adnexal Masses wall
o Paraovarian Cyst • May be mistaken for ectopic gestational
o Pedunculated Fibroid sac with decidual reaction
o Ectopic Pregnancy • Ovarian ectopic pregnancy is exceedingly
o Hydrosalpinx rare
o Abscess o Should decrease in size over pregnancy
• Some functional cysts may persist
o Can follow expectantly if no malignant
ESSENTIAL INFORMATION
features
Key Differential Diagnosis Issues • Postpartum pelvic ultrasound to exclude
• Adnexa should be routinely evaluated benign ovarian neoplasm
during pregnancy • Check for any prior pelvic ultrasounds to
o Usually with transvaginal ultrasound in see if present before pregnancy
the first trimester • Teratoma
o Identify and characterize ovaries o Most common incidental ovarian mass
• If not visible in pelvis, use seen in pregnancy
transabdominal approach • 10% bilateral
• Ovary can be displaced by large o May see hair, teeth, osseous structures
associated mass or torsion which gives characteristic complex
o If mass present, characterize as ovarian sonographic appearance
versus paraovarian in location o Dermoid plug often present
• Ovarian mass • Echogenic keratin "plug"
o Cystic ovarian mass usually related to • Posterior acoustic shadowing
corpus luteum o If large, risk of ovarian torsion
• Most often simple cyst of varying sizes • Theca Lutein Cysts
• Can be complicated or even o Multiple cysts within enlarged ovaries
solid-a ppearing bilaterally
• If large, consider close follow-up and • May see typical "spoke-wheel"
postpartum ultrasound to exclude appearance
benign ovarian tumor • Occasionally unilateral
o Solid ovarian mass most often a dermoid o Reaction of ovaries to elevated hormone
• Should have classic appearance levels
• May be bilateral • Multiple gestation pregnancies
o If ovarian mass is suspicious with cystic • Assisted reproduction patients
and solid components, consider removal • Rarely singleton pregnancy with
during pregnancy underlying high level of beta hCG
• Paraovarian cysts will not change over time o Associated pregnancy may be abnormal
and may have been seen on prior pelvic • Molar pregnancy - partial or complete
ultrasounds mole
13
26
....,
3:
III
~
::::I
• Hydrops - skin edema, ascites, pleural • Does not change in size with hormonal !.
effusions fluctuations o
o
• Triploidy - multiple fetal anomalies, • Use gentle transducer pressure to show it ::::I
Co
IUGR separate from ovary a:
o
o Look for signs of hyperstimulation o Pedunculated Fibroid ::::I
UI
syndrome • Attached somewhere to uterine wall even ::::I
• Maternal effusions, ascites, oliguria if exophytic or pedunculated ..,
"tl
• Seen in the setting of in vitro fertilization • Can be very heterogeneous if ~
CO
due to hormonal stimulation degeneration present ::::I
III
::::I
• May occur before intrauterine pregnancy o Ectopic Pregnancy ()
'<
identified • Extrauterine gestational sac ± yolk sac,
Helpful Clues for Less Common Diagnoses embryo
• Echogenic free fluid
• Endometrioma
o Homogeneous, low-level echoes
• May only see adnexal hematoma from
rupture
• Cystadenoma
o Hydrosalpinx
o Serous - unilocular anechoic cyst, thin
septations • Dilated tubular "mass"
o Mucinous - hypoechoic with internal
• Can be mistaken for ovarian mass - use
mucin, more often multilocular with transvaginal ultrasound to clarify
o Abscess
thicker septations
• Epithelial Ovarian Carcinoma • Secondary to tubo-ovarian infection
o Complex cystic ovarian mass
• Possibly ruptured appendix if in the right
o Vascularized, thick, irregular septations
lower quadrant
with soft tissue masses Other Essential Information
o Look for ascites or other indications of • Be sure to characterize adnexal mass as
peritoneal spread ovarian versus paraovarian to narrow
• Sex-Cord Stromal Tumor differential diagnosis
o Solid, homogeneous ovarian mass • If patient has had hormonal manipulation
o May be hormonally active and/or IVF,always consider possible
• Non-Ovarian Adnexal Masses heterotopic pregnancy
o Paraovarian Cyst
• Located in broad ligament
Corpus luteum Cyst Corpus luteum Cyst
Transvaginal ultrasound sh(MfS a 4.5 em persistent,

anechoic, right ovarian corpus luteum cyst •• at 28
Color Doppler ultrasound o( a corpus luteum cyst
shows the relativehypervascularity around the cyst.
13
weeks gestation. Given the benign appearance, removal which should not be mistaken (or an ectopic
is not required during pregnancy for confirmation. pregnancy.
27
>-
u ADNEXAL MASS IN PREGNANCY
C
ftI
C
Cl
l!!
ll..
C
Corpus Luteum Cyst Corpus Luteum Cyst
III
C (Left) Coronal transvaginal
o ultrasound shows a
~ hemorrhagic corpus luteum
=
'1:l
C cyst with retracting blood
o clot After two weeks, the
U
';;j cyst became anechoic. The
-•..
c sequence of findings is
GI typical for a resolving
ftI hemorrhagic cyst. (Right)
:::IE Sagittal transvaginal
ultrasound of the right ovary
(calipers) shows a solid-
appearing homogeneous
mass El Normal adjacent
ovarian tissue is also present
1Il2. This is a hemorrhagic
corpus luteum, which
resolved over lime.
Teratoma Teratoma
(Left) Transverse ultrasound
of the left adnexa shows a
cystic and solid,
mass =
heterogeneous, incidental
adjacent to the
uterus (placenta BIJ. (Right)
Color Doppler ultrasound
teratoma =
shows a benign mature
noted
incidentally in the second
trimester. This mass
measured 8 em with an
echogenic "plug" El
Dermoid cysts are the most
common ovarian neoplasms
discovered during
pregnancy.
Theca Lutein Cysts Theca Lutein Cysts

a thick placenta containing
multiple small and large cysts
=. In addition, the fetus has
intrauterine growth
restriction and anomalies
(not shown). (Right) Axial
patient shows the ovaries are
enlarged and contain theca
lutein cysts (right ovary. _.
These findings are associated
with triploidy.
13
28
Endometrioma Cystadenoma
(Left) Sagittal US shows a
low-level echoes =
cystic mass with diffuse
of an endometrioma. The
typical
mass was managed

expectantly and remained
unchanged during the
pregnancy. (Right) Axial
oblique T2WI MR shows a
simple cystic left ovarian
mass Ea posterior to the
uterus =.. without septa lions
or papillary projections. At
C-seclion delivery, a
mucinous cystadenoma was
removed.
Epithelial Ovarian Carcinoma Paraovarian Cyst

(Leh) Color Doppler
ultrasound shows an
incidental ovarian mass
found during a first trimester
ultrasound. There is a cystic
right ovarian mass with
vascular papillary
excrescences HI. Images of
the ovaries should be
obtained in every obstetrical
exam. pathology showed a
serous cystadenocarcinoma,
stage I. (Right) Transvaginal
right ovary with a corpus
luteum cyst E!ll and an
adjacent large paraovarian
cyst 112.

ultrasound of the right
adnexa shows a normal
ovary IJB with follicles.
Adjacent to the ovary is a
heterogeneous mass =- A
ruptured ectopic pregnancy
was removed at surgery.
shows a cystic, folded
tubular structure in the right
adnexa =.. consistent with a
chronic hydrosalpinx. This
complicated cystic ovarian
mass with thin septa lions.
13
29
>-
u BREAST MASS IN PREGNANCY
c
Cll
C
Cl
f DIFFERENTIAL DIAGNOSIS • May have posterior acoustic shadowing,
ll.. no effect, or increased posterior
C Common enhancement
III
C • Normal Fibroglandular Tissue o If involuted fibroadenoma, may see
o
:; • Fibroadenoma echogenic, internal coarse "popcorn"
'6 • Simple Cyst
c calcifications
o • Complicated Cyst
(.) o Atypical fibroadenomas may also have
Cll less Common irregular or microlobulated margins
•..
-
C
Gl • Breast Cancer • Should be sampled at any age if appears
Cll
~ • Lactating Adenoma atypical
• Abscess • Simple Cyst
• Phyllodes Tumor o Presents as painful palpable mass, often
with acute onset
o Anechoic circumscribed mass
ESSENTIAL INFORMATION • Smooth wall without irregularities or
Key Differential Diagnosis Issues solid components
• Start with breast ultrasound for palpable • Increased through transmission
lumps in pregnancy • May have thin nonvascular septa
• Differentiate whether cystic or solid • Complicated Cyst
o Simple vs. complicated cyst (both benign) o Low-level internal echoes
• Complicated cyst could be galactocele • Proteinaceous debris, cellular debris, or
o Solid mass requires more careful cholesterol crystals
evaluation • Movement often visible with realtime
• If benign-appearing, may follow in a imaging
young patient, though even benign • Consider galactocele (cyst filled with
lesions may grow in pregnancy milk) if during lactation
• If suspicious do not hesitate to perform o Can have fluid-debris level
mammogram and ultrasound-guided o Color or power Doppler ultrasound can
core biopsy show active swirling of debris
• If ultrasound negative, clinical follow-up o Benign finding; not an indication for
warranted to assess for any changes removal or biopsy unless patient
symptomatic and desires aspiration
• Aspiration may require 18-gauge needle
• Normal Fibroglandular Tissue as fluid can be tenacious
o Slightly more echogenic parenchyma
o Usually very dense on mammographic Helpful Clues for less Common Diagnoses
imaging due to hormonal stimulation of • Breast Cancer
tissue and milk production o - 3% of breast cancers occur during
• Fibroadenoma pregnancy or lactation
o Most common breast mass across all age • Cancers are considered
groups pregnancy-associated if occurs during
• Peak age of occurrence - 20-30 years old pregnancy or within I year of delivery
o Can significantly enlarge during o Palpable hypoechoic, irregular mass; no
pregnancy specific appearance in pregnancy
• Many involute postpartum or after • May have posterior acoustic shadowing
menopause and echo genic halo
o Circumscribed homogeneous mass o Do not hesitate to biopsy if lesion
growing parallel to breast tissues suspicious
• "Wider than tall" • Breast cancer can occur at any age
• lsoechoic or slightly hypoechoic to fat o Late diagnosis common when found
o Variable effect on acoustic transmission during pregnancy
13
30
• Could be due to difficult breast exam,
BREAST MASS IN PREGNANCY
o Focal, complicated fluid collection on

-..
3:
III
lD
:l
!!!.
age of patient, rapid growth in setting of ultrasound (')
o
many physiologic changes • Can have irregular margins and :l
Co
echogenic halo of surrounding ;:;
o Treatment should be initiated despite O·
pregnancy inflammation :l
III
• Including surgery and chemotherapy • May be difficult to distinguish from :l
• No significant known risk to the fetus in neoplasm unless correlated with clinical "ll
CD
the 2nd-3rd trimester history CC
o Ultrasound-guided drainage indicated to :l
• Radiation therapy usually deferred III
:l
o Most report similar outcome to patients aid in resolution of infection n
'<
with breast cancer diagnosed outside of • May require multiple aspirations during
pregnancy course of treatment until resolution
• If compare patients with similar age and • Phyllodes Tumor
stage at diagnosis o Solid, inhomogeneous, lobular
• Some studies suggest prognosis worse circumscribed mass
during pregnancy if advanced stage at • May contain small cystic spaces
diagnosis • Posterior acoustic enhancement
o If chemotherapy given, can cause o Not definitively distinguishable from
premature menopause fibroadenoma or carcinoma
• Lactating Adenoma o May be benign, malignant, or borderline
o Not sonographically distinguishable from Other Essential Information
fibroadenoma • FNA should always be performed for a
• Abundant proliferative changes on clinically suspicious lump even if normal
histology, without atypia ultrasound and mammogram
• Pregnancy-associated changes with • If any biopsy performed, notify pathologist
secretory activity that patient is pregnant or lactating to avoid
o Occurs during pregnancy and lactation confusion in interpretation
• More commonly occurs during • Core biopsy can be safely performed in
pregnancy than lactation pregnancy and lactation
• Abscess o Rare reports of milk fistula occurring
o Correlate with clinical history of infection
o Can be managed expectantly even if milk
o Usually erythematous/edematous
fistula develops
overlying skin
Normal Fibroglandular Tissue
Uluasound of che periareolar region in che late Jrd

Uimester of pregnancy shows mildly distended ducts ••
Uluasound of lactating patient after delivery shows
echogenic parenchyma wich focal ductal dilation in che
13
and diffusely echogenic parenchyma, consistent wich axillary tail III related to symptoms of a blocked duct.
pregnancy/lactational changes. There was a tender palpable lump on examination.
31
>-
u BREAST MASS IN PREGNANCY
c
Cll
C
tIl
•..
GI
ll.
c
III
Fibroadenoma Simple Cyst
C (Leh) Uluasound shows a
o solid, oval, gently lobulated,
~ circumscribed, hypoechoic
'tl
C mass at the site of a palpable
o lump 1:1. It is growing
(,)
parallello normal tissue
Cll
•..GIC
-
planes without posterior
acoustic shadowing. Biopsy
Cll at the patient's request
~ showed a fibroadenoma.
(Right) Ultrasound shows an
anechoic, circumscribed,
oval, simple cyst 1:1 at the
site of a palpable lump.
There is edge shadowing
and posterior acoustic
=
enhancement. signs of a
benign lesion.
Complicated Cyst
fluid-debris level in a
complicated cyst ilia with a
punctate echogenic
calcification as wel/ =.
Note
the hypoechoic debris
portion is sharply
demarcated without
suggestion of underlying
mass. (Right) Color Doppler
ultrasound shows no
Doppler flow in the layering
portion of the complicated
cyst. Despite the
complicated appearance,
this is a benign lesion.
Breast Cancer Breast Cancer

(Left) Ultrasound of a
palpable lump in a 27 yo
pregnant woman at 35 wks
gestation shows a 3 cm,
iI/-defined, hypoechoic mass
1:1 (biopsy showed high
grade, invasive ductal
cancer). A healthy baby was
delivered at 37 weeks.
(Right) Axial CECT of the
same patient 4 months later
shows rapid enlargement of
the tumor 1:1 despite
chemotherapy. Hilar
adenopathy Ell is also
visible. The patient died of
diffuse metastases 7 months
after diagnosis.
13
32
BREAST MASS IN PREGNANCY
-
s:
III
~
..•::::I
!!!.
n
o
::::I
Lactating Adenoma Abscess Co
(Leh) Ultrasound 01 a new ;::;:
lump in a lactating patient O·
::::I
shows a lobulated mass =:I UI
with an adjacent artery Ea. ::::I
Core biopsy conlirmed
lactating adenoma. (Right)
..•
"tI
~
Ultrasound of a non lender CC
::::I
lump shows an irregular III
mass. with an echogenic
::::I
n
halo Ea and an incidental '<
simple cystlllll. The patient
had partial response to
antibiotics for presumed
mastitis. The abscess was
drained with complete
resolution 01 the imaging
lindings.
Abscess
(Leh) Ultrasound in a
lactating patient 3 wks
postparlum shows a
complicated lIuid collection
at the site 01 skin erythema &
lump =:I. Note surrounding
echogenic background
parenchyma, consistent with
lactation. (Right) Ultrasound
guided drainage 01 the
abscess was per/ormed; the
needle is visible=:I. Despite
IV antibiotics, the abscess
was drained twice more
belore lull resolution. Repeat
drainage is preferred over
surgical evacuation to
minimize breast trauma.
Phyllodes Tumor Phyllodes Tumor

shows a heterogeneous
cystic mass III in a patient
just alter delivery, nearly
replacing all 01 the normal
parenchyma. This presented
during pregnancy and grew
rapidly throughout the
pregnancy. (Right) Axial
TI WI MR shows the relative
size ollelt breast (with mass)
=:I compared 10 the normal
right breast Ea. On exam the
discrepancy was initially
thought 10 be asymmetric
breast hypertrophy. Core
biopsy & excision showed
phyllodes tumor.
13
33
SEClilON 14
Postpartum Complications
Postpartum Hemorrhage 14-2
Postpartum Pain/Fever 14-6
III
c: POSTPARTUM HEMORRHAGE
o
;::
<a
.2 DIFFERENTIAL DIAGNOSIS • Remember that it is normal to have some
Q.
E blood & air within the uterus in the
o Common puerperium
(,)
E • Uterine Atony o In one study, 21% of healthy women had

~ • Intrauterine Blood Clot gas visible up to 3 wks after uncomplicated
1::
<a • Retained Products of Conception spontaneous vaginal delivery
Co
••
III o In another study, 64% of healthy women
o less Common
Co requesting sterilization had intrauterine
• Placenta Accreta Spectrum
• Uterine Dehiscence/Rupture blood on CT at 24 hours postpartum
• Endometritis o Uterine involution takes 6-8 weeks for
uterus to return to normal size
Rare but Important
• Gestational Trophoblastic Disease Helpful Clues for Common Diagnoses
• Uterine Atony
o Uterus does not contract after delivery of
ESSENTIAL INFORMATION placenta
Key Differential Diagnosis Issues o Immediate postpartum event treated with
• Primary postpartum hemorrhage (PPH) is massage, Pitocin, other uterotonic
defined as loss of> 500 mL of blood within medications
24 hours of delivery o May necessitate emergency hysterectomy
o Vulval/vaginal lacerations are managed for control of bleeding
clinically & do not require imaging o Imaging generally not performed
o Retained placenta diagnosed by inspection o Increased risk with multiparity, excessive
of delivered placenta uterine distension (multiple gestation,
• Managed with manual evacuation or polyhydramnios)
immediate curettage; imaging does not • Intrauterine Blood Clot
playa major role in diagnosis o Hypoechoic material in endometrial cavity
• Secondary PPH is defined as abnormal o No perfusion to endometrial contents
bleeding from the genital tract, from 24 • Retained Products of Conception
hours after delivery until 6 weeks o Mass in endometrial cavity
postpartum • Echogenic material much more
• Risk factors suspicious for RPOC than hypoechoic
o Antepartum hemorrhage in current o Use color Doppler to look for perfusing
pregnancy vessels from myometrium
o Placenta previa (15x risk) • Echogenic material with feeding vessels
o Multiple pregnancy (5x risk) highly suggestive of RPOC, but lack of
o Pre-eclampsia flow does not exclude the diagnosis
o Cesarean section (9x risk for emergency, Helpful Clues for less Common Diagnoses
3x risk for elective) • Placenta Accreta Spectrum
• Important to differentiate conditions o Abnormal penetration of placental tissue
requiring surgical intervention from others beyond endometrial lining of uterus
o Most cases of retained products of o Placenta fails to separate after delivery
conception (RPOC) are managed with with potentially catastrophic bleeding
dilation & curettage (D&C) • If diagnosis made prior to onset of labor,
o Intrauterine clot, without RPOC, managed delivery is planned in tertiary center with
conservatively neonatal intensive care, appropriate
o Endometritis may require hospitalization subspecialty surgeons alerted, blood
& intravenous antibiotics banked
o Gestational trophoblastic disease (GTD) o Strong association with placenta previa &
requires D&C ± chemotherapy, radiation prior C-section
therapy o For preemptive diagnosis, maintain high
level of suspicion and look for
14
2
POSTPARTUM HEMORRHAGE "tl
o
Ul
••
'tI
III
• Loss of normal subplacental hypoechoic • Bright echoes in cavity from gas ::l
zone c
• May appear normal & still have clinical 3
• Abnormal placental lacunae: "Swiss endometritis n
cheese" placenta or "tornado" vessels o More common after C-section than after
o
3
• Interruption in bright reflector of bladder vaginal birth "2-
mucosa o May be complicated by ovarian vein n°
III
••
0°
• Large vessels or nodularity in bladder thrombosis ~
wall Helpful Clues for Rare Diagnoses
Ul
• Uterine Dehiscence/Rupture • Gestational Trophoblastic Disease

o Dehiscence or rupture most common at
o Can occur after spontaneous abortion,
site of cesarean hysterotomy ectopic pregnancy, or rarely, after normal
o Most commonly occurs in labor
pregnancy
• Surgical emergency with high maternal o Choriocarcinoma
morbidity & potential fetal demise
• Most commonly follows a molar
• Imaging rarely performed pregnancy
o Delayed rupture presents with pain,
• Uterine findings variable from no
bleeding detectable abnormality to multicystic,
• Look for defect in myometrium hypervascular mass
• Often clot in the defect in continuity • Size of uterine mass does not relate to
with intrauterine fluid presence of metastases
• Endometritis • Theca lutein ovarian cysts from elevated
o Generally a clinical diagnosis based on
human chorionic gonadotropin (beta
combination of fever, pelvic pain, elevated hCG)
white cell count, & tender "boggy uterus" • May present as acute respiratory or
in a patient with PPH neurological symptoms after pregnancy
o Imaging findings of endometritis are • Chest X-ray is appropriate to diagnose
nonspecific and overlap with normal lung metastases
postpartum state & RPOC • CT scanning is preferable for
• Uterus often large intra-abdominal metastases
• Increase flow on Doppler typical, but not • MR or CT scanning for brain metastases
always present (lack of flow does not rule
out endometritis) Other Essential Information
• Mixed echogenicity material in cavity • Undiagnosed blood dyscrasia may present as
(may have coexistent RPOq unexplained PPH
Uterine Atony Intrauterine Blood Clot
Axial oblique T2WI MR shows marked uterine

distension lEI (maternal hips Ell in a patient with
Sagittal transvaginal ultrasound shows the cervix lEI
distended by hypoechoic clot and some aclive bleedmg
14
twins one of whom had an anomaly (not shown). lEI. The clot was removed manually and hemostasis
Exces~ uterine distension is a risk factor for atony. secured by inflating a catheter within the uterus.
3
III
C POSTPARTUM HEMORRHAGE
o
••
IV
.!:!
ii
E
o Retained Products of Conception Retained Products of Conception
o
E (Left) Sagittal ultrasound
:l shows apparently intact
1:: placental cotyledons =:I in
-
IV
Q.
III
o
Q,.
the uterus in a patient with
PPH. (Right) Sagittal T2WI
MR in the same case
confirms a large amount of
placental material ~ in the
enlarged uterus, which
reaches the umbilicus (i.e.,
the size of a 20 week
gestation). Contrast
enhanced images showed no
evidence of myometrial
invasion. Final diagnosis was
RPOC, with a large portion
of the placenta remaining in
the uterine cavity.

"tornado·shaped vessels. ll
and multiple areas of

abnormal placental extension
ED into the myometrium.
Look carefully in all patients
at risk for accreta spectrum
in order to avoid its
potentially lethal
presentation with
uncontrolled acute PPH.
placental vessels !lI!l invading
the nodular bladder wall =:I.
The patient needed a partial
cystectomy at the time of
cesarean hysterectomy.
Uterine Dehiscence/Rupture Uterine Dehiscence/Rupture

(Left) Axial CEeT shows
loculated fluid =:I around
the irregularly marginated
uterus EiI. The uterus was
necrotic, ruptured, and
surrounded by pus. The
patient presented with pain,
fever, & vaginal bleeding and
quickly developed septic
shock. (Right) Sagittal color
delayed rupture with a
defect !lI!l at the hysterotomy
site. Note that clot =:I
extends anterior to the
uterine defect. This woman
presented with pain and
delayed PPH.
14
4
POSTPARTUM HEMORRHAGE "tI
o
l/l
••
"0
III
~
c
3
Endometritis Endometritis o
(Left) Axial CECT shows a o
pyomelr;um with a
3
'2.
distended endometrial
cavil'y~which contains a
fluid-fluid leve/l!:l.
..
c;'
III
0'
Surrounding inflammatory
:J
l/l
changes are seen in the
parametrial fat lID. (Right)
Transvaginal ultrasound in
another case shows a
distended endometrial cavity
filled with echogenic debris
E!ilI and bright, echogenic gas
bubbles lID in a patient with
pyometrium. 80th patients
presented with fever, pain,
and elevated white cell
count, as well as PPH.
Gestational Trophoblastic Disease Gestational Trophoblastic Disease

(Left) Axial CECT shows an
enhancing intrauterine mass
lID. There was no
myometrial breach or distant
metastases. Other images
showed theca lutein cysts in
the ovaries. (Right) Axial
T2WI MR in a different
patient with
choriocarcinoma shows
small intrauterine masses =.
All women with persistent
bleeding after delivery or
abortion should have their
beta hCG checked to rule
out GTO.
Gestational Trophoblastic Disease Gestational Trophoblastic Disease

(Left) Sagittal T2WI MR in a
patient with PPH and
elevated beta hCG shows a
mixed signal intensity mass
lID invading the
myometrium. The fundal
serosa ~ remains intact.
Theca lutein ovarian cysts
were present, and a chest
X-ray showed multiple lung
metastases. (Right) Gross
pathology from the same
patient shows the
intrauterine choriocarcinoma
=
~ and an enlarged ovary
with multiple theca
lutein cysts.
14
5
III
C POSTPARTUM PAIN/FEVER
o
:;:;
ftl
.2 DIFFERENTIAL DIAGNOSIS o Typical location between lower uterine
'ii.
E segment and bladder wall
o Common
o Helpful Clues for Less Common Diagnoses
E • Endometritis
:l • Bladder Flap Hematoma • Adnexal Torsion
1:: o Increased risk in puerperium as ovaries
-
ftl
Q.
III
o
Il.
Less Common
• Adnexal Torsion
• Ovarian Vein Thrombosis
descend back into pelvis
o Ovary enlarged, edematous with peripheral
follicles
• Uterine Rupture o Use Doppler to evaluate flow; venous flow
obliterated before arterial
ESSENTIAL INFORMATION • Ovarian Vein Thrombosis
o Difficult diagnosis on ultrasound but
Key Differential Diagnosis Issues contrast-enhanced CT shows typical
• Puerperal fever is defined as fever ~ 38° C findings
within 14 days of giving birth • Distended ovarian vein with surrounding
• Aim to differentiate pregnancy-related from inflammation
other sources of fever • Typical course extending from pelvis to
o Check for vaginal bleeding, discharge inferior vena cava (lVC) on right, pelvis
o History of vaginal vs. cesarean delivery to renal vein on left
o History of prior C-section • Inflammation can extend to surrounding
• Post-operative population at risk for bowel; do not confuse with appendicitis
pneumonia, venous thromboembolic or other bowel pathology
disease, urinary tract infection • Uterine Rupture
Helpful Clues for Common Diagnoses o More common in labor but may occur as
• Endometritis delayed event

o Mixed echogenicity debris in endometrial o History of prior C-section or uterine
cavity surgery
o Punctate bright echoes with distal o Anterior uterine segment hematoma at site
shadowing suggest gas in cavity of dehiscence ± intraperitoneal fluid

o Increased risk with retained products of Other Essential Information
conception, C-section • Mother should pump and discard breast
• Bladder Flap Hematoma milk for 24 hours after contrast-enhanced
o Occurs after C-section CT due to iodine excretion in breast milk
Endometritis Endometritis
14 Sagittal ultrasound shows punctate echoes =

in the
anterior myometrium and an area of inhomogeneous
Sagittal color Doppler ultrasound shows hyperemia
in the anterior myometrium and fluid tracking into the
=:I
echoes between the uterus 11m and the bladder E!lI in a hysterotomy site !11m in a patient with endometritis fXJst
patient with {ever and pain {allowing C-section. C-section.
6
POSTPARTUM PAIN/FEVER ."o
III
~
"::lc:
III
3
Bladder Flap Hematoma (")
Bladder Flap Hematoma
(Left) Axial CECT shows so(t
o
3
tissue edema HI and a 'E.
loculated fluid collection =:I n'
posterior to the bladder m III
~
(Right) Sagittal CECT 0'
reconstruction ;n the same :::l
III
patient shows that the
loculated fluid collection =:I
is in the typical location (or a
bladder flap hematoma. The
patient was morbidly obese,
which made the surgery
more technically challenging.
The complication rale is
increased in obese patients.
Adnexal Torsion Adnexal Torsion

(Left) Transvaginal
ultrasound shows an
enlarged ovary (calipers)
with a fluid-fluid level =:I in
a cyst within it. The patient
developed acute pain within
hours o( delivery. (Right)
Color Doppler ultrasound in
the same patient shows no
flow in the edematous
parenchyma, consistent with
torsion. The diagnosis was
surgically con(irmed.
Ovarian Vein Thrombosis Uterine Rupture

(Left) CECT shows a thick,
enhancing vessel wall =:I
with low density intraluminal
clot. It is important to (ollow
the course o( this tubular
structure to confirm it is the
ovarian vein and to evaluale
(or propagation o( clot into
the IVC. (Right) GCT shows
disruption of the anterior
myometrium HI and
multiple rim-enhancing fluid
collections ilia in a patient
trans(erred in septic shock
a(ter a vaginal delivery. The
uterus was necrotic and
ruptured, and there was a
liter o( pus in the abdomen.
14
7
INDeX
A
Aase syndrome, radial ray malformation associated Adnexal mass
with,7:27 in first trimester, 1:38-41
Abdomen. See also Gastrointestinal tract; in pregnancy, 13:26-29
Genitourinary tract. non-ovarian, adnexal mass in pregnancy vs.,
abdominal calcifications, 6:18-21 13:27
abdominal wall defect, 6:2-5 Adnexal torsion
differential diagnosis, 6:2-5 acute, in pregnancy, 13:10-11, 12
elevated maternal serum alpha fetoprotein pelvic pain associated with, 1:35,37
related to, 13:14-15 postpartum pain/fever associated with, 14:6, 7
acute abdomen in pregnancy, 13:10-13 Adrenal hemorrhage, adrenal mass vs., 6:62, 63
cystic abdominal mass, 6:32-37 Adrenal mass, 6:62-63
large abdominal circumference, 6:22-27 Alcohol
solid abdominal mass, 6:38-39 facial cleft associated with, 3:3
Abdominal ectopic pregnancy. See Ectopic fetal alcohol syndrome, microcephaly associated
pregnancy, abdominal. with,2:43
Abortion Allantoic cyst, with patent urachus, abnormal
complete, bleeding without visible IUP related umbilical cord vs., 9:26, 28
to, 1:8, 9 Alobar holoprosencephaly. See Holoprosencephaly,
spontaneous, abnormal sac position related to, alobar.
1:16, 17-18 Alpha fetoprotein, elevated maternal serum,
Abruptio placenta. See Placental abruption. 13:14-17
Abscess Ambiguous genitalia, 6:64-65
adnexal mass in pregnancy vs., 13:27 Amelia
breast mass in pregnancy vs., 13:31,33 abnormal associated with, 7:31,35
Achondrogenesis 1A,lB severe limb shortening associated with, 7:13, 17
abnormal calvarium associated with, 2:37, 41 Amnion
abnormal ossification associated with, 7:24, 25 empty amnion sign, 1:31
abnormal vertebral column associated with, in normal early pregnancy, 1:30
2:75 normal, increased nuchal translucency related
absent calvarium associated with, 2:33, 35 to, 1:21,23
in abnormal first trimester fetus, 1:25 Amniotic band syndrome
severe limb shortening associated with, 7:12, 16 abdominal wall defect vs., 6:2-3, 4
small chest associated with, 4:15, 18 abnormal calvarium associated with, 2:37, 39
Achondroplasia abnormal fetal posture/movement associated
abnormal midface associated with, 3:13 with,7:3
abnormal spine position associated with, 2:69, abnormal foot vs., 7:30, 34
72 abnormal spine position associated with, 2:72
heterozygous, mildly short femur/humerus absent calvarium associated with, 2:32, 34
associated with, 7:9, 11 facial cleft associated with, 3:3, 5
homozygous, severe limb shortening associated linear echoes in amniotic fluid vs., 10:13, 15
with,7:13 membranes in multiple gestations vs., 8:3
small chest associated with, 4:15, 17-18 micrognathia associated with, 3:6, 9
Acrania, absent calvarium related to, 2:32, 34 syndactyly associated with, 7:36, 42
Adenoma, lactating, breast mass in pregnancy vs., Amniotic fluid. See also Oligohydramnios;
13:31,33 Polyhydramnios.
Adenomatoid malformation, cystic congenital. See echogenic, 10:10-11
Cystic adenomatoid malformation, congenital. linear echoes in, 10:12-15
Adenomyosis, uterine/cervical mass vs., 12:7, 9 Anal atresia, dilated bowel vs., 6:13, 14-15
INDEX
Anembryonic pregnancy Arrhythmias, 5:24-25
abnormal sac contents vs., 1:12, 13 Arteriovenous fistula
bleeding with fUP vs., 1:2, 5 lateral intracranial cysts vs., 2:24-25, 27
Anemia midline intracranial cyst vs., 2:19, 23
Fanconi anemia posterior fossa cyst/fluid collection vs., 2:57, 59
fetal anemia associated with, 11:17 Arthrogryposis, akinesia sequence
radial ray malformation associated with, abnormal fetal posture/movement associated
7:27,29 with, 7:2,4
fetal, 11:16-19 abnormal ossification associated with, 7:24
Anencephaly digit abnormalities associated with, 7:39
abnormal brain parenchyma related to, 2:28, 29 polyhydramnios associated with, 10:7, 9
abnormal calvarium related to, 2:37, 39 small/absent stomach vs., 6:6-7, 8
absent calvarium related to, 2:32, 33 Ascites, 6:16-17
echogenic amniotic fluid vs., 10:10, 11 differential diagnosis, 6:16-17
elevated maternal serum alpha fetoprotein massive, large abdominal circumference vs.,
related to, 13:14, 16 6:23,27
in abnormal first trimester fetus, 1:24 Asphyxiating thoracic dysplasia
microcephaly vs., 2:42, 44 abnormal spine position associated with, 2:69,
Aneuploidy 73
ear abnormalities associated with, 3:22 polydactyly associated with, 7:40
facial cleft associated with, 3:3 small chest associated with, 4:15, 19
Aneurysms Astrocytoma, intracranial mass vs., 2:52
foramen ovale, ventricular septal defect vs., Atelencephaly, microcephaly vs., 2:42-43, 44
5:17, 19 Atelosteogenesis, abnormal ossification associated
umbilical artery, abnormal umbilical vessels vs., with,7:24
9:33,37 Atrial flutter, 5:24, 25
umbilical cord Atrioventricular septal defect
abnormal placental insertion vs., 9:23, 25 unbalanced
abnormal umbilical vessels vs., 9:33 abnormal cardiac axis associated with, 5:9,
Angulated bones, 7:18-23 11
Anophthalmia, anomalies associated with, 3:16, 17 cardiomegaly associated with, 5:12, 14
Anotia, 3:22 ventricular septal defect vs., 5:17, 19
Antepartum hemorrhage, 13:6-9 Autosomal recessive polycystic kidney disease. See
Antibody reactions, fetal anemia associated with, Polycystic kidney disease, autosomal recessive.
11:16 Autosomal recessive syndromes, in abnormal first
Aortic arch, interrupted, abnormal outflow tracts trimester fetus, 1:25,29
associated with, 5:21, 23
Aortic coarctation, abnormal cardiac axis
associated with, 5:9, 11 B
Apert syndrome Battledore placenta, placentomegaly vs., 9:19, 20
abnormal midface associated with, 3:13 Beckwith-Wiedemann syndrome
syndactyly associated with, 7:36, 42 hepatomegaly associated with, 6:28-29, 30
Appendicitis large abdominal circumference associated with,
acute, in pregnancy, 13:10, 12 6:22,24
pelvic pain related to, 1:35,37 macrocephaly associated with, 2:47, 49
Aprosencephaly, microcephaly vs., 2:42-43, 44 macroglossia associated with, 3:24, 25
Aqueductal stenosis macrosomia associated with, 11:8,9
early, mild ventriculomegaly related to, 2:6, 8 renal enlargement associated with, 6:47, 49
late, hydrocephalus related to, 2:10, 12 tongue abnormalities associated with, 3:24, 25
macrocephaly related to, 2:46, 48 Bladder
Arachnodactyly, 7:37 absent/small, 6:58-61
Arachnoid cyst enlarged, cystic abdominal mass vs., 6:32, 34
abnormal cerebellum vs., 2:60-61, 62 exstrophy
large, fluid-filled calvarium related to, 2:15, 17 absent/small bladder vs., 6:59, 61
lateral intracranial cysts vs., 2:24, 26 in abdominal wall defect, 6:3, 5
midline intracranial cyst vs., 2:18, 22 large, 6:56-57
posterior fossa cyst!fluid collection vs., 2:56-57, normal, absent/small bladder vs., 6:58, 59
59
ii
INDEX
rupture Bronchogenic cyst, cystic lung mass associated
absent/small bladder vs., 6:59, 61 with, 4:11, 13
ascites vs., 6:16,17 Bronchopulmonary sequestration
Bladder flap hematoma abnormal cardiac axis associated with, 5:2, 4-5
Cesarean section complications associated with, mimic, adrenal mass vs., 6:62-63
13:23,24 solid abdominal mass associated with, 6:38
postpartum pain/fever associated with, 14:6, 7 solid/echogenic lung mass associated with, 4:6,
Bleeding. See Hemorrhage. 8
Blood, ingested, echogenic bowel associated with, thoracic fluid collection associated with,
6:10, 11 4:3,6
Body stalk anomaly
abdominal wall defect associated with, 6:3, 4
abnormal fetal posture/movement associated c
with, 7:2,5 Calcifications
abnormal spine position associated with, 2:68, abdominal,6:18-21
70 hepatic, abdominal calcifications vs., 6:18-19,
abnormal umbilical vessels associated with, 20-21
9:33,37 intracranial,2:50-51
elevated maternal serum alpha fetoprotein Calvarium
associated with, 13:15, 16 abnormal,2:36-41
Bones, angulated, 7:18-23 absent, 2:32-35
Bowel fluid-filled, 2: 14-17
atresia Campomelic dysplasia, angulated bones associated
cystic abdominal mass vs., 6:32, 34 with, 7:18, 21
small bowel, large abdominal circumference Camptodactyly, hand abnormalities associated
vs., 6:22, 24 with, 7:37, 38
dilated, 6:12-15 Cantrell pentalogy, abdominal wall defect in, 6:3, 5
echogenic, 6:10-11 Cardiac axis, abnormal, 5:2-7
ischemia, echogenic bowel associated with, Cardiac chamber asymmetry, 5:8-11
6:10, 11 abnormal cardiac axis associated with, 5:2-3, 5
normal third trimester, dilated bowel vs., 6:12, differential diagnosis, 5:8-11
13 Cardiac defects, congenital. See also specific defect.
obstruction in abnormal first trimester fetus, 1:24-25,27-28
large abdominal circumference associated increased nuchal translucency related to, 1:20
with, 6:22, 24 structural, hydrops associated with, 11:10, 12
polyhydramnios associated with, 10:6, 8 Cardiac mass, 5:26-27
perforation, ascites vs., 6:16, 17 Cardiac muscle hypertrophy, cardiac mass vs., 5:26,
Brachycephaly, abnormal calvarium associated 27
with, 2:36, 38 Cardiac outflow tracts, abnormal, 5:20-23
Brachydactyly Cardiac rate or rhythm, abnormal, 5:24-25
foot abnormalities associated with, 7:37 Cardiac septal defect. See Atrioventricular septal
hand abnormalities associated with, 7:37 defect; Ventricular septal defect.
toes, 7:35, 39 Cardiomegaly, 5:12-15
Bradyarrhythmia, hydrops associated with, 11:10, Cardiomyopathy, dilated, cardiomegaly associated
13 with, 5:12, 14
Bradycardia, transient, 5:24 Cardiosplenic syndromes, abnormal cardiac axis
Brain parenchyma, abnormal, 2:28-31 associated with, 5:3, 6
Breast cancer, breast mass in pregnancy vs., 13:30- Carpenter syndrome
31, 32 abnormal midface associated with, 3:13
Breast cyst, breast mass in pregnancy vs., 13:30, 32 polydactyly associated with, 7:40, 41
Breast mass in pregnancy, 13:30-33 syndactyly associated with, 7:37, 42
Breech presentation Caudal regression sequence
complete, 11:20, 21 abnormal fetal posture/movement associated
footling, 11:20,21 with, 7:2, 5-6
frank, 11:20,21 abnormal vertebral column associated with,
incomplete, 11:20 2:74, 76
Broad thumbs, 7:37 Cavum septi pellucidi, absent, 2:2-5
Broad toes, 7:37
iii
INDEX
)( Cavum vergae, midline intracranial cyst vs., 2:18, endometrioma in, 13:23, 25
~ 19
"'C normal (mimic), Cesarean section complications
C Cebocephaly, facial mass associated with, 3:27 associated with, 13:23, 25
Central nervous system Chest
brain parenchyma, abnormal, 2:28-31 lung mass
calvarium cystic, 4:10-13
abnormal, 2:36-41 solid/echogenic, 4:6-9
absent, 2:32-35 small, 4:14-19
fluid-filled, 2: 14-17 thoracic fluid collection, 4:2-5
cavum septi pellucidi, absent, 2:2-5 Chiari II malformations
cerebellar hypoplasia abnormal cerebellum associated with, 2:60,
abnormal cerebellum vs., 2:61, 63 61-62
posterior fossa cyst/fluid collection vs., 2:57, absent cavum septi pellucidi associated with,
59 2:2,4
cerebellum, abnormal, 2:60-63 early, mild ventriculomegaly associated with,
hydrocephalus. See Hydrocephalus. 2:6-7,8
intracranial calcifications, 2:50-51 hydrocephalus associated with, 2:10, 11-12
intracranial cysts macrocephaly associated with, 2:47, 49
lateral, 2:24-27 Chiari III malformations
macrocephaly related to, 2:46, 48 abnormal vertebral column vs., 2:75, 77
midline, 2:18-23 spinal mass vs., 2:65, 67
intracranial mass, 2:52-55 Cholecystitis, acute, in pregnancy, 13:10, 12
macrocephaly. See Macrocephaly. Choledochal cyst, cystic abdominal mass vs., 6:33,
microcephaly. See Microcephaly. 36
neoplasms Chorioamniotic development, normal, 1:31-32
abnormal brain parenchyma related to, 2:29, Chorioamniotic separation
31 abnormal placental margin vs., 9:10-11, 13
macrocephaly related to, 2:47, 49 linear echoes in amniotic fluid vs., 10:12
obstructing mass, hydrocephalus related to, membranes in multiple gestations vs., 8:3, 5
2:11, 13 Chorioangioma
posterior fossa cyst/fluid collections, 2:56-59 cardiomegaly associated with, 5:13
severe anomalies, in abnormal first trimester mimic, uterine/cervical mass vs., 12:7, 9
fetus, 1:24,26-27 placental, hydrops associated with, 11:10, 14
spinal mass, 2:64-67 placental mass-like lesions vs., 9:14,17
spine position, abnormal, 2:68-73 polyhydramnios associated with, 10:7, 9
ventriculomegaly, mild, 2:6-9 Choriocarcinoma
vertebrae. See Vertebrae. invasive, abnormal beta HCG related to, 13:19
Cephalopagus, in conjoined twins, 8:20-21 uterine/cervical mass vs., 12:7
Cerclage, failed, short cervix vs., 12:3, 5 Chorion, in normal early pregnancy, 1:30
Cerebellar hypoplasia Chorionic bump
abnormal cerebellum vs., 2:61, 63 abnormal sac contents vs., 1:13, 15
posterior fossa cyst/fluid collection vs., 2:57, 59 in first trimester membranes, 1:31
Cerebellum, abnormal, 2:60-63 Chorionic gonadotropin, human. See Human
Cervical ectopic pregnancy. See Ectopic pregnancy. chorionic gonadotropin, abnormal beta.
Cervical teratoma, neck mass associated with, Choroid plexus cyst, lateral intracranial cysts vs.,
3:30-31,33 2:24,25
Cervical/uterine mass, 12:6-9 Choroid plexus papilloma
Cervix hydrocephalus related to, 2:11, 13
curved, short cervix vs., 12:3, 4 intracranial mass vs., 2:53, 55
incompetent, short cervix vs., 12:3, 4 Chylothorax, thoracic fluid collection associated
short, 12:2-5 with, 4:2-3, 4
Cesarean section complications, 13:22-25 Circumvallate placenta
Cesarean section scar abnormal placental margin vs., 9:10, 12
ectopic linear echoes in amniotic fluid vs., 10:13, 15
bleeding with IUP related to, 1:3, 6-7 Cleft lip/palate
Cesarean section complications associated abnormal midface associated with, 3:12--13, 14
with, 13:23, 25 facial cleft associated with, 3:2, 4
IV
INDEX
facial mass associated with, 3:26 thoracic fluid collection associated with, 4:3, 6
small/absent stomach associated with, 6:7,9 Cystic fibrosis, echogenic bowel associated with,
Clinodactyly, 7:37, 38 6:10,11
Clitoromegaly, ambiguous genitalia vs., 6:64 Cystic hygroma
Cloacal exstrophy fetal, abnormal fetal posture/movement
absent/small bladder vs., 6:59, 61 associated with, 7:3
ambiguous genitalia vs., 6:64, 65 in abnormal first trimester fetus, 1:24, 26
in abdominal wall defect, 6:3, 5 increased nuchal translucency related to, 1:21
Cloacal malformation neck mass associated with, 3:30, 31-32
ambiguous genitalia vs., 6:64, 65 Cystic kidneys. See Kidneys, cystic; Multicystic
cystic abdominal mass vs., 6:33, 37 dysplastic kidneys; Polycystic kidney disease,
dilated bowel vs., 6:13, 15 autosomal recessive.
Clubfoot, 7:30, 31-32 Cystic teratoma, midline intracranial cyst vs., 2:18,
Coarctation of aorta, abnormal cardiac axjs 22
associated with, 5:9, 11 Cytomegalovirus infection
Complete heart block, 5:24, 25 abnormal brain parenchyma related to, 2:28, 30
Conjoined twins, 8:20-23 intracranial calcifications related to, 2:50
abnormal spine position associated with, 2:69,
73
abnormal umbilical vessels vs., 9:33, 35 o
characteristics of, 8:14, 18 Dacrocystocele, eye abnormalities associated with,
differential diagnosis, 8:20-23 3:16, 19
in abnormal first trimester fetus, 1:25, 29 Dandy-Walker continuum
Conotruncal malformation, abnormal cardiac axis classic
associated with, 5:3, 6 abnormal cerebellum related to, 2:60, 62
Cornelia de Lange syndrome fluid-filled calvarium related to, 2:14-15, 17
abnormal midface associated with, 3:13 hydrocephalus related to, 2:10
microcephaly associated with, 2:43, 45 late, hydrocephalus related to, 2:12
micrognathia associated with, 3:7, 10-11 midline intracranial cyst vs., 2:18, 20
radial ray malformation associated with, 7:27, posterior fossa cyst!fluid collection vs., 2:56,
29 58
Corpus callosum agenesis variant
absent cavum septi pellucidi vs., 2:2, 4 abnormal cerebellum related to, 2:60, 62
midline intracranial cyst vs., 2:18, 20 midline intracranial cyst vs., 2:18, 21
mild ventriculomegaly vs., 2:6, 8 posterior fossa cyst!fluid collection vs., 2:56,
Corpus luteum cyst 58
adnexal mass in pregnancy vs., 13:26, 27-28 Destructive process, microcephaly vs., 2:43, 44-45
adnexal mass vs., 1:38, 39-40 Diabetes
pelvic pain related to, 1:34, 36 macrosomia associated with, 11:8,9
Cranial fossa, posterior, cyst!fluid collections in, large abdominal circumference vs., 6:22, 23
2:56-59 polyhydramnios associated with, 10:6, 7
Craniopagus, in conjoined twins, 8:21, 23 Diabetic embryopathy
Craniopharyngioma, intracranial mass vs., 2:53, 55 angulated bones associated with, 7:18,21
Craniosynostosis micrognathia associated with, 3:6, 10
abnormal calvarium associated with, 2:36-37, polydactyly associated with, 7:36, 38, 40, 41
39 radial ray malformation associated with, 7:26,
abnormal midface associated with, 3:13 28
Cyclopia, facial mass associated with, 3:27 severe limb shortening associated with, 7:12,
Cystadenoma, adnexal mass in pregnancy vs., 15-16
13:27,29 syndactyly associated with, 7:38, 42
Cystic abdominal mass, 6:32-37 Diaphragmatic hernia, congenital
Cystic adenomatoid malformation, congenital abnormal cardiac axis associated with, 5:2, 3-4
abnormal cardiac axis associated with, 5:2, 4 cystic lung mass associated with, 4:10, 11-12
cystic lung mass associated with, 4:10, 12 small/absent stomach associated with, 6:6, 8
polyhydramnios associated with, 10:7, 9 solid/echogenic lung mass associated with,
solid/echogenic lung mass associated with, 4:6, 4:6-7,8
7-8 thoracic fluid collection associated with, 4:6
v
INDEX
Dicephalus, in conjoined twins, 8:23, 31 bleeding without visible \UP related to, 1:9,
Dichorionic diamniotic twins 11
first trimester membranes and, 1:30, 32 abnormal beta HCG related to, 13:18,20
linear echoes in amniotic fluid vs., 10:12, 14 adnexal mass in pregnancy vs., 13:27, 29
membranes in, 8:2, 3 cervical
Digit abnormalities, 7:36-39. See aLso Polydactyly; abnormal sac position related to, 1:16-17,
Syndactyly. 18-19
abnormal toes, 7:30, 34-35 bleeding with \UP related to, 1:3, 6
brachydactyly in tersti tial
foot abnormalities associated with, 7:37 abnormal sac position related to, 1:16, 18
hand abnormalities associated with, 7:37 bleeding with \UP related to, 1:3, 6
toes, 7:35, 39 pelvic pain related to, 1:34, 36-37
broad thumbs, 7:37 pseudosac in, abnormal sac contents vs., 1:12,
broad toes, 7:37 14
camptodactyly, 7:37,38 tubal
clenched fingers, 7:37 abnormal sac position related to, 1:16, 18
clinodactyly, 7:37, 38 bleeding without visible IUP related to,
differential diagnosis, 7:36-39 1:8-9, 10-11
ectrodactyly, 7:30, 34, 37, 42 Ectrodactyly, 7:30, 34, 37, 42
Greig cephalopolysyndactyly, 7:42 Edema. See aLso Hydrops.
oligodactyly foot and extremities, 7:30, 33
hand abnormalities associated with, 7:37, 38 Elevated maternal serum alpha fetoprotein,
toes, 7:30-31,34 13:14-17
Dilated bowel, 6:12-15 Ellis-van Creveld syndrome, polydactyly associated
Discordant twin growth, 8:6-9 with,7:40
asymmetric fluid distribution associated with, Embryonic demise
8:10,12-13 abnormal beta HCG related to, 13:19
differential diagnosis, 8:6-9 abnormal sac contents vs., 1:12, 14
idiopathic and normal, 8:6, 7 Emphysema, congenital lobar, solid/echogenic
Dolichocephaly, abnormal calvarium related to, lung mass associated with, 4:7
2:36,38 Empty amnion sign, 1:31
Double outlet right ventricle, abnormal outflow Encephalocele
tracts associated with, 5:21, 23 abnormal calvarium associated with, 2:37, 39
Down syndrome. See Trisomy 21 (Down elevated maternal serum alpha fetoprotein
syndrome). related to, 13:14, 16
Duodenal atresia, dilated bowel vs., 6:12, 13 frontal, facial mass associated with, 3:26-27, 29
Duplicated collecting system. See Kidneys, microcephaly associated with, 2:42, 44
duplicated collecting system. occipital
in abnormal first trimester fetus, 1:24, 29
neck mass associated with, 3:30, 33
E Encephalomalacia
Ears, abnormal, 3:22-23 abnormal brain parenchyma related to, 2:28, 30
Ebstein anomaly hydrocephalus related to, 2:11, 13
abnormal cardiac axis associated with, 5:8-9, 11 in twins, 8:15
cardiomegaly associated with, 5:12, 13 mild ventriculomegaly related to, 2:7, 9
Echogenic amniotic fluid, 10:10-11 Endometrial polyp, abnormal sac contents vs., 1:13
Echogenic bowel, 6:10-11 Endometrioma
Echogenic cardiac focus, cardiac mass vs., 5:26 adnexal mass in pregnancy vs., 13:27, 29
Echogenic kidneys, 6:50-51 adnexal mass vs., 1:38,41
Ectopia cordis, abnormal cardiac axis associated in Cesarean section scar, 13:23, 25
with, 5:3,7 Endometritis
Ectopic C-section scar Cesarean section complications associated with,
abnormal sac position related to, 1:17, 19 13:23,25
bleeding with \UP vs., 1:3, 6-7 postpartum hemorrhage associated with, 14:3, 5
Ectopic pregnancy postpartum pain/fever associated with, 14:6
abdominal Enteric duplication cyst, cystic abdominal mass vs.,
abnormal sac position related to, 1:17, 19 6:33,35
VI
INDEX
Epignathus, facial mass associated with, 3:26, hypoxia/severe hypotonia, abnormal fetal
28-29 posture/movement associated with, 7:2-3, 6
Esophageal atresia, small/absent stomach mass, hydrops associated with, 11:10
associated with, 6:6, 7-8 neck mass, abnormal fetal posture/movement
Exencephaly associated with, 7:3, 6
abnormal brain parenchyma related to, 2:28, 29 trauma to, angulated bones vs., 7:19,23
abnormal calvarium associated with, 2:37, 39 Fetus-in-fetu
absent calvarium related to, 2:32, 33 abdominal calcifications vS., 6:19,21
echogenic amniotic fluid vs., 10:10, 11 conjoined twins associated with, 8:23, 31
elevated maternal serum alpha fetoprotein cystic abdominal mass vs., 6:33, 36
related to, 13:14, 16 in multiple gestations, 8:14, 19
in abnormal first trimester fetus, 1:24, 27 solid abdominal mass vs., 6:38, 39
microcephaly vs., 2:42, 44 Fibroadenoma, breast mass in pregnancy vs., 13:30,
Eyes, abnormal, 3:16-21 32
Fibroglandular tissue, normal, breast mass in
pregnancy vs., 13:30,31
F Fibroid, pedunculated, adnexal mass vs., 1:38-39,
Face/Neck 41, 13:27
abnormal ears, 3:22-23 Fibroid degeneration, in pregnancy, 13:11, 13
abnormal eyes, 3:16-21 Fibroma, cardiac mass vs., 5:26, 27
abnormal midface, 3:12-15 Fingers. See Digit abnormalities.
facial cleft, 3:2-5 First trimester
facial mass, 3:26-29 abnormal fetus, 1:24-29
macroglossia, 3:24-25 abnormal sac contents, 1:12-15
micrognathia, 3:6-11 abnormal sac position, 1:16-19
neck mass, 3:30-33 adnexal mass, 1:38-41
Facial cleft, 3:2-5 bleeding with JUr, 1:2-7
Facial mass, 3:26-29 bleeding without visible lUr, 1:8-11
Fanconi anemia increased nuchal translucency, 1:20-23
fetal anemia associated with, 11:17 megacystis, large bladder associated with, 6:56,
radial ray malformation associated with, 7:27, 57
29 membranes, 1:30-33
Femoral dysplasia, proximal focal, 7:9, 11 pelvic pain, 1:34-37
Femur/humerus, mildly short, 7:8-11 Focal myometrial contraction
Fetal alcohol syndrome, microcephaly associated placental mass-like lesions vs., 9:14, 16
with, 2:43 uterine/cervical mass vs., 12:6, 7-8
Fetal demise Foot. See also Digit abnormalities.
abnormal beta HCG related to, 13:19 abnormal, 7:30-35,37
elevated maternal serum alpha fetoprotein edema, 7:30, 33
related to, 13:15, 17 sandal gap, 7:30, 33, 37, 39
increased nuchal translucency related to, 1:21 Foramen ova Ie aneurysm, ventricular septal defect
uterine size < dates and, 13:2, 3 vs., 5:17,19
with twin-related anomalies, 8:14, 15-16 Fryns syndrome, abnormal midface associated
Fetus with, 3:13
abnormal, abnormal sac contents vs., 1:13 Funic presentation, 11:20, 21
abnormal first trimester, 1:24-29
abnormal posture/movement, 7:2-7
abnormal presentation, 11:20-21 G
anemia, 11:16-19 Gallstones, abdominal calcifications vs., 6:18, 20
bowel obstruction Gastrointestinal tract. See also Bowel.
large abdominal circumference associated abdominal calcifications, 6:18-21
with, 6:22, 24 ascites, 6:16-17
polyhydramnios associated with, 10:6, 8 cystic abdominal mass, 6:32-37
constraint of, abnormal fetal posture/movement dilated bowel, 6:12-15
associated with, 7:2, 5 echogenic bowel, 6:10-11
hydronephrosis, 6:42-45 hepatomegaly, 6:28-31
small/absent stomach, 6:6-9
VII
INDEX
solid abdominal mass, 6:38-39 umbilical cord, abnormal umbilical cord vs.,
Gastroschisis 9:27,31
abdominal wall defect in, 6:2, 3 Hemorrhage
echogenic amniotic fluid vs., 10:10, 11 adrenal, adrenal mass vs., 6:62, 63
elevated maternal serum alpha fetoprotein antepartum, 13:6-9
related to, 13:14, 16 bleeding between membranes, in multiple
in abnormal first trimester fetus, 1:25, 28 gestations, 8:3
intrauterine growth restriction related to, 11:3, intracranial
7 abnormal brain parenchyma related to, 2:28,
Genitalia, ambiguous, 6:64-65 30
Genitourinary tract. See also Bladder; Kidneys. hydrocephalus related to, 2:10-11, 13
adrenal mass, 6:62-63 intracranial mass vs., 2:52, 53-54
ambiguous genitalia, 6:64-65 perigestational
scrotal mass, 6:66-67 bleeding with IUP vs., 1:2,4
urinary tract anomalies, large abdominal elevated maternal serum alpha fetoprotein
circumference vs., 6:22-23 related to, 13:15, 17
Gestational sac, in first trimester resolving, with first trimester membranes,
abnormal contents, 1:12-15 1:31,33
abnormal position, 1:16-19 postpartum, 14:2-5
bleeding associated with, 1:2 with IUP, in first trimester, 1:2-7
Gestational trophoblastic disease, postpartum without visible IUP, in first trimester, 1:8-11
hemorrhage associated with, 14:3, 5 Hemorrhagic cyst, pelvic pain related to, 1:34, 35
Glioependymal cyst Hepatic calcifications, abdominal calcifications vs.,
large, fluid-filled calvarium related to, 2:15, 17 6:18-19,20-21
midline intracranial cyst vs., 2:18, 22 Hepatic tumors
Glycogen storage disorder, hepatomegaly vs., 6:29 large abdominal circumference vs., 6:23, 27
Goiter solid abdominal mass vs., 6:38, 39
fetal, abnormal fetal posture/movement Hepatoblastoma, hepatomegaly vs., 6:29, 31
associated with, 7:3 Hepatomegaly, 6:28-31
neck mass associated with, 3:31, 33 differential diagnosis, 6:28-31
small/absent stomach associated with, 6:7,9 large abdominal circumference vs., 6:23, 27
Gray matter heterotopia, abnormal brain Hernia
parenchyma related to, 2:29, 31 diaphragmatic, congenital. See Diaphragmatic
Greig cephalopolysyndactyly, 7:42 hernia, congenital.
Gut herniation, physiologic (mimic) inguinal, scrotal mass vs., 6:66, 67
abdominal wall defect vs., 6:2, 4 Herniation, gut, physiologic (mimic)
abnormal umbilical cord vs., 9:26, 29 abdominal wall defect vs., 6:2, 4
abnormal umbilical cord vs., 9:26, 29
Heterotaxy, abnormal cardiac axis associated with,
H 5:3,6
Hamartoma, mesenchymal, hepatomegaly vs., Heterotopic pregnancy. See Pregnancy, heterotopic.
6:29,31 "Hitchhiker thumb," 7:37
Hand. See also Digit abnormalities. Holoprosencephaly
trident hand, 7:37,39 alobar
HCG, abnormal beta, 13:18-21 absent cavum septi pellucidi vs., 2:2, 4
Heart. See Cardiac entries. eye abnormalities associated with, 3:16
Heart block, complete, 5:24, 25 in abnormal first trimester fetus, 1:24
HELLP syndrome, in pregnancy, 13:11, 13 midline intracranial cyst vs., 2:18, 21
Hemangioendothelioma facial cleft associated with, 3:3, 5
fetal anemia associated with, 11:17, 19 lobar
hepatomegaly vs., 6:29, 31 absent cavum septi pellucidi vs., 2:3, 5
Hematoma eye abnormalities associated with, 3:16
bladder flap semi lobar
Cesarean section complications associated absent cavum septi pellucidi vs., 2:2-3, 4
with, 13:23, 24 eye abnormalities associated with, 3:16
postpartum pain/fever associated with, 14:6, in abnormal first trimester fetus, 1:26
7 midline intracranial cyst vs., 2:22
VIII
INDEX
Holoprosencephaly spectrum Hydrosalpinx ::::l
abnormal midface associated with, 3:14-15 adnexal mass in pregnancy vs., 13:27, 29 c..
1'0
eye abnormalities associated with, 3:16 adnexal mass vs., 1:39,41 ><
facial mass associated with, 3:27 Hydrothorax, thoracic fluid collection associated
fluid-filled calvarium associated with, 2:14, 16 with, 4:2, 3-4
macrocephaly associated with, 2:46-47, 48 Hyperstimulation syndrome, adnexal mass vs.,
Holt Gram syndrome, radial ray malformation 1:38,40
associated with, 7:26, 28 Hypertelorism
Human chorionic gonadotropin, abnormal beta, anomalies associated with, 3: 17
13:18-21 eye abnormalities associated with, 3:16, 18-19
Humerus/femur, mildly short, 7:8-11 Hypochondrogenesis, abnormal ossification
Hydantoin syndrome associated with, 7:24, 25
facial cleft associated with, 3:3 Hypophosphatasia
microcephaly associated with, 2:43 abnormal calvarium associated with, 2:37, 41
Hydatidiform mole abnormal ossification associated with, 7:24,25
complete absent calvarium associated with, 2:33, 35
abnormal beta HCG related to, 13:18,20 angulated bones associated with, 7:19, 23
abnormal sac contents vs., 1:12, 15 severe limb shortening associated with, 7:13, 17
bleeding without visible lUP related to, 1:9, Hypoplastic left heart syndrome
11 abnormal cardiac axis associated with, 5:8, 9
placental mass-like lesions vs., 9:14-15, 17 abnormal outflow tracts associated with, 5:20,
placental sonolucencies related to, 9:3, 5 21
invasive Hypospadias, ambiguous genitalia vs., 6:64, 65
abnormal beta HCG related to, 13:19,21 Hypotelorism, 3:16, 17-18
abnormal sac contents vs., 1:13, 15 Hypoxia/severe hypotonia, abnormal fetal posture/
uterine/cervical mass vs., 12:7, 9 movement associated with, 7:2-3, 6
partial
abnormal sac contents vs., 1:13, 15
bleeding with lUP related to, 1:2-3, 5 I
Hydranencephaly Ileal atresia
fluid-filled calvarium related to, 2:16, 214 dilated bowel vs., 6:12, 14
macrocephaly related to, 2:47, 49 echogenic amniotic fluid vs., 10:10, 11
Hydrocele, scrotal mass vs., 6:66 Ileus, meconium. See Meconium ileus.
Hydrocephalus, 2:10-13 Incompetent cervix, short cervix vs., 12:3, 4
differential diagnosis, 2:10-13 Increased nuchal translucency. See Nuchal
severe translucency, increased.
absent cavum septi pellucidi vs., 2:2, 4 Infection
fluid-filled calvarium related to, 2:16, 214 ascites vs., 6:16, 17
Hydrocolpos, cystic abdominal mass vs., 6:33, 37 echogenic bowel associated with, 6:10
Hydronephrosis hepatomegaly vs., 6:28, 30
cystic kidneys vs., 6:52 hydrops associated with, 11:11, 15
fetal, 6:42-45 intrauterine growth restriction associated with,
Hydrops, 11:10-15 11:3,7
anomalies associated with, 4:2 Ingested blood, echogenic bowel associated with,
ascites vs., 6:16-17 6:10,11
differential diagnosis, 11:10-15 Inguinal hernia, scrotal mass vs., 6:66, 67
hepatomegaly vs., 6:28 Iniencephaly
idiopathic, 11:10, 11 abnormal fetal posture/movement associated
immune, 11:11, 15 with, 7:3, 7
hepatomegaly vs., 6:28, 29 abnormal spine position associated with, 2:69,
in twins, 8:15 73
large abdominal circumference vs., 6:23, 26 abnormal vertebral column associated with,
macrosomia associated with, 11:8, 9 2:75,77
nonimmune, hepatomegaly vs., 6:28, 30 neck mass associated with, 3:31, 33
placentomegaly vs., 9:18, 19 spinal mass vs., 2:65, 67
polyhydramnios associated with, 10:6, 8 Interrupted aortic arch, abnormal outflow tracts
thoracic fluid collection associated with, 4:2 associated with, 5:21, 23
IX
INDEX
>< Interstitial ectopic pregnancy. See Ectopic unilateral, 6:54, 55
CI.I pregnancy.
"'C compensatory hypertrophy from, renal
C Intracranial calcifications, 2:50-51 enlargement vs., 6:47, 49
Intracranial cysts autosomal recessive polycystic kidney disease.
lateral, 2:24-27 See Polycystic kidney disease, autosomal
macrocephaly related to, 2:46, 48 recessive.
midline, 2:18-23 congenital anomalies, small chest associated
Intracranial hemorrhage with, 4:14, 15-16
abnormal brain parenchyma related to, 2:28, 30 crossed fused ectopia
hydrocephalus related to, 2:10-11, 13 absent kidney vs., 6:54, 55
intracranial mass vs., 2:52, 53-54 renal enlargement vs., 6:46, 48
Intracranial mass, 2:52-55 cystic, 6:52-53
Intrauterine blood clot, postpartum hemorrhage duplicated collecting system
associated with, 14:2, 3 mild pelviectasis vs., 6:40, 41
Intrauterine growth restriction (lUGR), 11:2-7 renal enlargement vs., 6:46, 48
differential diagnosis, 11:2-7 with obstruction
early onset, mildly short femur/humerus fetal hydronephrosis vs., 6:42, 44
associated with, 7:8, 11 mimic, cystic kidneys vs., 6:52, 53
echogenic bowel associated with, 6:10, 11 echogenic, 6:50-51
oligohydramnios associated with, 10:2, 4 enlargement, 6:46-49
one twin (discordant twin growth), 8:6, 8 fetal hydronephrosis, 6:42-45
placentomegaly vs., 9:19, 21 mild pelviectasis, 6:40-41
severe multicystic dysplastic. See Multicystic dysplastic
absent/small bladder vs., 6:59, 60 kidneys.
small chest associated with, 4:14, 16 obstructive cystic dysplasia
symmetric, microcephaly associated with, 2:42, cystic kidneys vs., 6:52, 53
43 echogenic kidneys associated with, 6:50, 51
uterine size < dates and, 13:2 pelvic, absent kidney vs., 6:54, 55
Intraventricular mass, intracranial mass vs., 2:53 Kyphomelic dysplasia, angulated bones associated
Ischemia, bowel, echogenic bowel associated with, with, 7:18, 22
6:10, 11
Ischiopagus, in conjoined twins, 8:20, 23
L
Lactating adenoma, breast mass in pregnancy vs.,
J 13:31,33
Jejunal atresia Leiomyoma
dilated bowel vs., 6:12, 14 uterine/cervical mass vs., 12:6, 8
echogenic amniotic fluid vs., 10:10, 11 uterine size> dates and, 13:4, 5
Joint angulation, abnormal, 7:18-19,22-23 "Lemon-shaped calvarium," 2:36, 38
Joint dislocation, abnormal fetal posture/ Leukemia
movement associated with, 7:3, 7 fetal anemia associated with, 11:17, 19
Joubert syndrome, abnormal cerebellum associated hepatomegaly associated with, 6:29
with, 2:61, 63 Limb
reduction defect, severe limb shortening
associated with, 7:12-13, 17
K severe shortening, 7:12-17
Kasabach-Merritt sequence, fetal anemia associated terminal transverse defect, abnormal foot
with,11:17 related to, 7:31, 35
Kidney stone disease, acute, in pregnancy, 13:10, Lipoma
12 intracranial mass vs., 2:53, 55
Kidneys spinal mass vs., 2:64, 67
absent (agenesis), 6:54-55 Lipomyelomeningocele, spinal mass vs., 2:64, 67
bilateral, 6:54 Lissencephaly, abnormal brain parenchyma related
absent/small bladder vs., 6:58, 60 to, 2:29, 31
differential diagnosis, 6:54-55 Liver. See Hepatic entries.
oligohydramnios associated with, 10:2, 4 Lobar holoprosencephaly. See Holoprosencephaly,
small chest associated with, 4:14, 15 lobar.
x
INDEX
Loop electrosurgical excision procedure (LEEP), Membranes
short cervix related to, 12:3, 5 first trimester, 1:30-33
Lop ear, 3:22, 23 in multiple gestations, 8:2-5
Low-set ears, 3:22 premature rupture, asymmetric fluid
Lung agenesis, abnormal cardiac axis associated distribution associated with, 8:10-11
with, 5:3,7 preterm premature rupture, oligohydramnios
Lung mass related to, 10:2, 3
cystic, 4:10-13 Menstrual dates, imprecise, abnormal beta HCG
solid/echogenic, 4:6-9 related to, 13:18, 19
Lymphangioma Mesoblastic nephroma
cystic abdominal mass vs., 6:32, 35 large abdominal circumference vs., 6:23, 27
cystic lung mass associated with, 4:10-11, 13 polyhydramnios associated with, 10:7, 9
large abdominal circumference vs., 6:23 renal enlargement vs., 6:47, 49
spinal mass vs., 2:64-65, 67 solid abdominal mass vs., 6:38, 39
truncal, neck mass associated with, 3:31 Microcephaly, 2:42-45
abnormal calvarium associated with, 2:37, 40
differential diagnosis, 2:42-45
M idiopathic, 2:42, 43
Macrocephaly, 2:46-49 Micrognathia, 3:6-11
abnormal calvarium associated with, 2:37, 40 Micromelia
benign familial, 2:46, 47 abnormal foot associated with, 7:31, 35
differential diagnosis, 2:46-49 severe limb shortening associated with, 7:13, 17
Macroglossia, 3:24-25 Microphallus, ambiguous genitalia vs., 6:64, 65
Macrosomia, 11:8-9 Microphthalmia, 3:16, 17
differential diagnosis, 11 :8-9 Microtia, 3:22
idiopathic, 11:8 Midface, abnormal, 3:12-15
large abdominal circumference vs., 6:22, 23 Midface hypoplasia, 3:12, 13
macrocephaly vs., 2:46, 47 Moderator band, cardiac mass vs., 5:26
placentomegaly vs., 9:18-19 Mole. See Hydatidiform mole.
polyhydramnios vs., 10:6, 7 Monochorionic diamniotic twins, linear echoes in
uterine size> dates and, 13:4 amniotic fluid vs., 10:12, 14
Maternal serum alpha fetoprotein, elevated, Monochorionic monoamniotic twins, membranes
13:14-17 in, 8:2-3, 4
Meckel Gruber syndrome first trimester, 1:30, 32
cystic kidneys associated with, 6:52, 53 Mucus plug, prominent, short cervix vs., 12:3, 4
echogenic kidneys associated with, 6:50, 51 Multicystic dysplastic kidneys
in abnormal first trimester fetus, 1:25, 29 bilateral
polydactyly associated with, 7:36, 40 absent/small bladder associated with, 6:58,
renal enlargement associated with, 6:46-47, 49 60
Meconium, intraluminal calcified, abdominal small chest associated with, 4:14, 16
calcifications vs., 6:19,21 cystic abdominal mass vs., 6:32, 33
Meconium ileus differential diagnosis, 6:52
dilated bowel vs., 6:12-13, 14 large abdominal circumference associated with,
large abdominal circumference vs., 6:22, 25 6:22-23,25
Meconium peritonitis oligohydramnios associated with, 10:2, 4
abdominal calcifications vs., 6:18, 19-20 renal enlargement associated with, 6:46, 47-48
echogenic bowel associated with, 6:10, 11 Multiple gestations. See also Twin entries.
Meconium pseudocyst abnormal beta HCG related to, 13:18, 19-20
abdominal calcifications vs., 6:18, 19-20 asymmetric fluid distribution, 8:10-13
cystic abdominal mass vs., 6:32, 34-35 conjoined twins. See Conjoined twins.
echogenic bowel vs., 6:10, 11 discordant twin growth, 8:6-9
large abdominal circumference vs., 6:22, 25 elevated maternal serum alpha fetoprotein
Mega cisterna magna related to, 13:15, 17
mimic, abnormal cerebellum vs., 2:61, 63 membranes in, 8:2-5
posterior fossa cyst!fluid collection vs., 2:56, 57 short cervix vs., 12:3, 4
Megacystis microcolon, large bladder associated twin-related anomalies, 8:14-19
with, 6:56, 57 uterine size> dates and, 13:4, 5
XI
INDEX
>< Multiple pterygium syndrome, abnormal fetal in abnormallirst trimester fetus, 1:25-26
Q,/
"'C posture/movement associated with, 7:3, 7 in first trimester, 1:20-23
C Musculoskeletal system in first trimester membranes, 1:31,33
abnormal digits. See Digit abnormalities.
abnormal fetal posture/movement, 7:2-7
abnormal foot, 7:30-35 o
abnormal ossification, 7:24-25 Occipital encephalocele
angulated bones, 7:18-23 in abnormal first trimester fetus, 1:24, 29
mildly short femur/humerus, 7:8-11 neck mass associated with, 3:30, 33
polydactyly. See Polydactyly. Occiput-posterior presentation, 11:20
radial ray malformation, 7:26-29 OEIS (omphalocele, exstrophy of bladder,
severe limb shortening, 7:12-17 imperforate anus, spinal deformities)
syndactyly. See Syndactyly. syndrome, abdominal wall defect in, 6:3
Myelocystocele, spinal mass vs., 2:65, 67 Oligodactyly
Myelomeningocele, spinal mass vs., 2:64, 65-66 fingers, 7:37, 38
Myeloschisis, spinal mass vs., 2:64, 66 toes, 7:30-31,34
Myomatous uterus, asymmetric fluid distribution Oligohydramnios, 10:2-5
associated with, 8:10-11, 12-13 differential diagnosis, 10:2-5
Myometrial contraction, focal micrognathia associated with, 3:6, 8
placental mass-like lesions vs., 9:14, 16 of one twin, asymmetric fluid distribution
uterine/cervical mass vs., 12:6, 7-8 associated with, 8:10, 12-13
small/absent stomach vs., 6:6
uterine size < dates and, 13:2, 3
N Omphalocele
Nabothian cyst, short cervix vs., 12:2-3 abdominal wall defect in, 6:2, 4
Nager syndrome, micrognathia associated with, 3:7 elevated maternal serum alpha fetoprotein
Nasal bone related to, 13:14-15, 16
absent, in abnormal first trimester fetus, 1:25, in abnormal first trimester fetus, 1:25, 28
28 mimic, abnormal umbilical cord vs., 9:26, 29
absent/small, abnormal midface associated Omphalocele, exstrophy of bladder, imperforate
with, 3:12, 13 anus, spinal deformities (OEIS) syndrome,
Neck mass, 3:30-33 abdominal wall defect in, 6:3
differential diagnosis, 3:30-33 Omphalomesenteric duct cyst, abnormal umbilical
fetal, abnormal fetal posture/movement cord vs., 9:26, 28
associated with, 7:3, 6 Omphalopagus, in conjoined twins, 8:20, 22
Nephroma, mesoblastic Orbital tumors
large abdominal circumference vs., 6:23, 27 eye abnormalities associated with, 3:16
polyhydramnios associated with, 10:7, 9 facial mass associated with, 3:27, 29
renal enlargement vs., 6:47, 49 types of, 3:17
solid abdominal mass vs., 6:38, 39 Ossification, abnormal, 7:24-25
Neu Laxova syndrome Osteogenesis imperfecta
microcephaly associated with, 2:43, 45 abnormal calvarium associated with, 2:37, 40
micrognathia associated with, 3:7 abnormal ossification associated with, 7:24, 25
Neural tube defect, open, elevated maternal serum absent calvarium associated with, 2:32-33, 34
alpha fetoprotein related to, 13:14 angulated bones associated with, 7:18,20
Neurenteric cyst, cystic lung mass associated with, mildly short femur/humerus associated with,
4:11 7:9,11
Neuroblastoma severe limb shortening associated with, 7:12,
adrenal mass vs., 6:62, 63 14-15
cystic abdominal mass vs., 6:33, 36 small chest associated with, 4:14-15, 17
metastatic, hepatomegaly vs., 6:29, 31 Otocephaly, micrognathia associated with, 3:7, 11
solid abdominal mass vs., 6:38, 39 Ovarian cyst, cystic abdominal mass vs., 6:32, 35
Nuchal cord (mimic) Ovarian mass
increased nuchal translucency associated with, adnexal mass in pregnancy vs., 13:26
1:21, 23 uterine size> dates and, 13:4, 5
neck mass associated with, 3:30, 32 Ovarian neoplasms
Nuchal translucency, increased adnexal mass vs., 1:38,41
xii
INDEX
carcinoma, epithelial, adnexal mass in cord insertion cysts, placental sonolucencies
pregnancy vs., 13:27,29 associated with, 9:2-3, 5
teratoma, adnexal mass vs., 1:38,40 cysts, linear echoes in amniotic fluid vs., 10:13,
Ovarian vein thrombosis, postpartum pain/fever 15
associated with, 14:6, 7 implantation on myoma, placental mass-like
lesions vs., 9:14, 16
marginal cord insertion, abnormal placental
p margin vs., 9:10, 12
Pachygyria-polymicrogyria, abnormal brain marginal sinus previa, antepartum hemorrhage
parenchyma related to, 2:29, 31 vs., 13:6-7, 8
Papillary muscle, cardiac mass vs., 5:26, 27 marginal sinus vessels, placental sonolucencies
Paraovarian cyst associated with, 9:2, 4
adnexal mass in pregnancy vs., 13:27, 29 mass-like lesions, 9:14-17
adnexal mass vs., 1:39,41 sonolucencies, 9:2-5
Paraovarian mass, uterine size> dates and, 13:4, 5 succenturiate lobe, abnormal placental location
Parasitic twin, conjoined twins associated with, vs., 9:7, 8-9
8:23,31 teratoma, placental mass-like lesions vs., 9:15,
Partial hydatidiform mole. See Hydatidiform mole, 17
partial. tornado-shaped vessels of accreta, placental
Parvovirus infection sonolucencies associated with, 9:2, 4
echogenic bowel associated with, 6:11 unequal sharing
fetal anemia associated with, 11:16-17, 18 asymmetric fluid distribution associated
Pedunculated fibroid, adnexal mass vs., 1:38-39, with, 8:10, 12-13
41, 13:27 discordant twin growth associated with,
Pelvic pain, first trimester, 1:34-37 8:6-7,9
Pelviectasis, mild, 6:40-41 Placenta accreta spectrum
Pentalogy of Cantrell, abdominal wall defect in, abnormal placental location associated with,
6:3,5 9:6-7,8-9
Pericardial effusion, thoracic fluid collection abnormal placental margin associated with,
associated with, 4:3, 4-5 9:11,13
Pericardial teratoma, solid/echogenic lung mass antepartum hemorrhage associated with, 13:7, 9
associated with, 4:7, 9 Cesarean section complications associated with,
Perigestational hemorrhage 13:22,23-24
bleeding with IUP vs., 1:2, 4 postpartum hemorrhage associated with,
elevated maternal serum alpha fetoprotein 14:2-3,4
related to, 13:15, 17 Placenta previa
resolving, with first trimester membranes, 1:31, abnormal placental location associated with,
33 9:6,7-8
Peritonitis, meconium, echogenic bowel associated antepartum hemorrhage associated with, 13:6, 8
with, 6:10, 11 marginal sinus, abnormal placental location
Pfeiffer syndrome, syndactyly associated with, associated with, 9:6, 8
7:42,43 Placental abruption
Phyllodes tumor, breast mass in pregnancy vs., acute
13:31,33 placental mass-like lesions vs., 9:14, 15-16
Pierre Robin syndrome, micrognathia associated placentomegaly vs., 9:18
with, 3:6, 9 acute abdomen vs., 13:10, 11
Placenta antepartum hemorrhage associated with, 13:6, 7
abnormal cord insertion, 9:22-25 echogenic amniotic fluid vs., 10:10
abnormal location, 9:6-9 marginal, abnormal placental margin vs., 9:10,
abnormal margin, 9:10-13 11
battledore, placentomegaly vs., 9:19, 20 mimic, uterine/cervical mass vs., 12:6, 8
chorioangioma, hydrops associated with, 11:10, old, linear echoes in amniotic fluid vs., 10:12-
14 13,14
circumvallate placental sonolucencies associated with, 9:2, 4
abnormal placental margin vs., 9:10, 12 placentomegaly vs., 9:20
linear echoes in amniotic fluid vs., 10:13, 15 Placental insufficiency
elevated maternal serum alpha fetoprotein
related to, 13:15
XIII
INDEX
>< intrauterine growth restriction associated with, adnexal mass associated with, 1:39, 41
QJ
"C 11:2,3-5 bleeding with TUPassociated with, 1:3, 7
C Placental lake, placental sonolucencies associated uterine size in
with, 9:2, 3 < dates, 13:2-3
Placentomegaly, 9:18-21 > dates, 13:4-5
Pleural effusion very early normal, bleeding without visible IUP
abnormal cardiac axis associated with, 5:2, 5 related to, 1:8, 10
thoracic fluid collection associated with, 4:2 Premature atrial contraction, 5:24
Polycystic kidney disease, autosomal recessive Premature rupture of membranes, asymmetric fluid
absent/small bladder associated with, 6:58-59, distribution associated with, 8:10-11
60 Premaxillary protrusion, facial mass associated
echogenic kidneys associated with, 6:50 with, 3:26, 27-28
large abdominal circumference associated with, Presentation, abnormal, 11:20-21
6:23,25 Preterm premature rupture of membranes
oligohydramnios associated with, 10:2-3, 5 (PPROM), oligohydramnios related to, 10:2, 3
renal enlargement associated with, 6:46, 48 Primitive neuroectodermal tumor, intracranial
severe, small chest associated with, 4:14, 15 mass vs., 2:53
Polydactyly, 7:40-41 Proboscis, facial mass associated with, 3:26, 28
differential diagnosis, 7:40-41 Proptosis
disorders/abnormalities associated with, 7:36, anomalies associated with, 3:17
37, 38, 40-41 eye abnormalities associated with, 3:16, 19
familial, 7:36, 40 Protruding ear, 3:22, 23
isolated, 7:37 Prune belly syndrome
short rib-polydactyly, 7:40 fetal hydronephrosis associated with, 6:43, 45
small chest associated with, 4:15, 19 large abdominal circumference associated with,
toes, 7:30, 34 6:23,26
Polyhydramnios, 10:6-9 large bladder associated with, 6:56, 57
differential diagnosis, 10:6-9 oligohydramnios associated with, 10:3, 5
idiopathic, 10:6 Pseudoascites (mimic), ascites vs., 6:16
of one twin, asymmetric fluid distribution Pseudocyst, meconium. See Meconium pseudocyst.
associated with, 8:10-11 Pseudosac, in ectopic pregnancy, abnormal sac
uterine size> dates and, 13:4 contents vs., 1:12, 14
Porencephaly, lateral intracranial cysts vs., 2:25, 27 Pterygia, multiple, abnormal fetal posture/
Posterior fossa cyst/fluid collections, 2:56-59 movement associated with, 7:3, 7
Postpartum hemorrhage, 14:2-5 Pulmonary agenesis, abnormal cardiac axis
Postpartum pain/fever, 14:6-7 associated with, 5:3, 7
Preauricular tags, facial mass associated with, 3:27, Pulmonary valve
29 atresia
Pregnancy. See also First trimester. abnormal outflow tracts associated with,
abnormal beta HCG in, 13:18-21 5:20,22
acute abdomen in, 13:10-13 with intact ventricular septum, abnormal
adnexal mass in, 13:26-29 cardiac axis associated with, 5:8, 10
anembryonic stenosis, abnormal outflow tracts associated
abnormal sac contents vs., 1:12, 13 with, 5:20, 22
bleeding with TUPvs., 1:2,5 Pyelonephritis, acute, in pregnancy, 13:10, 12
antepartum hemorrhage, 13:6-9 Pygopagus, in conjoined twins, 8:20, 22
breast mass in, 13:30-33
Cesarean section complications in, 13:22-25
early normal, bleeding with IUP related to, 1:2, R
4 Radial ray malformation, 7:26-29
ectopic. See Ectopic pregnancy. differential diagnosis, 7:26-29
elevated maternal serum alpha fetoprotein in, hand abnormalities associated with, 7:37, 39
13:14-17 Renal agenesis. See Kidneys, absent (agenesis).
failed, bleeding with IUP related to, 1:2, 3-4 Renal cyst, simple, cystic kidneys vs., 6:52, 53
heterotopic Renal pelvis, mild pelviectasis, 6:40-41
abnormal sac position associated with, 1:17, Retained products of conception
19 abnormal beta HCG associated with, 13:18, 20
xiv
INDEX
abnormal sac contents vs., 1:12, 15 Sinus previa, marginal, antepartum hemorrhage
bleeding without visible [UP associated with, associated with, 13:6-7, 8
1:8,10 Sirenomelia, abnormal foot associated with, 7:31,
postpartum hemorrhage associated with, 14:2, 4 35
Retinoic acid, facial cleft associated with, 3:3 Skeletal dysplasia
Rh incompatibility abnormal midface associated with, 3:13, 15
fetal anemia associated with, 11:16, 17-18 severe, polyhydramnios associated with, 10:7, 9
hydrops associated with, 11:11 Skeletal dysplasia (mimic), absent calvarium
Rhabdomyoma, cardiac mass vs., 5:26, 27 associated with, 2:32
Rhombencephalosynapsis, abnormal cerebellum Small bowel atresia, large abdominal circumference
associated with, 2:61, 63 associated with, 6:22, 24
Roberts syndrome, radial ray malformation Smith-Lemli-Opitz syndrome
associated with, 7:27 polydactyly associated with, 7:40, 41
Rockerbottom foot, 7:30, 32 syndactyly associated with, 7:42, 43
Round calvarium, 2:36, 38 Solid abdominal mass, 6:38-39
Spaulding sign, with abnormal calvarium, 2:36, 39
Spina bifida
s abnormal fetal posture/movement associated
Sac with, 7:2, 3
gestational sac, in first trimester abnormal spine position associated with, 2:68,
abnormal contents, 1:12-15 70
abnormal position, 1:16-19 abnormal vertebral column associated with,
bleeding associated with, 1:2 2:74, 75
yolk sac, abnormal, abnormal sac contents vs., elevated maternal serum alpha fetoprotein
1:12, 13-14 associated with, 13:14, 15
Sacrococcygeal teratoma Spinal mass, 2:64-67
cardiomegaly associated with, 5:13, 15 Spine position, abnormal, 2:68-73
spinal mass vs., 2:64, 66 Splenomegaly, large abdominal circumference
Sandal gap foot, 7:30, 33, 37, 39 associated with, 6:23, 27
Scalp masses, abnormal calvarium associated with, Stomach, small/absent, 6:6-9
2:37,41 "Strawberry-shaped calvarium," 2:36, 38
Scan plane, incorrect Supraventricular tachycardia, 5:24, 25
absent cavum septi pellucidi vs., 2:2, 3 Syndactyly, 7:42--43
micrognathia vs., 3:6, 7 differential diagnosis, 7:42--43
posterior fossa cyst!f1uid collection vs., 2:56, 58 disorders/abnormalities associated with, 7:36,
Scan technique, poor, abnormal calvarium vs., 37, 38
2:36,37 familial, 7:36, 42
Schizencephaly toes, 7:30, 35
abnormal brain parenchyma associated with, Synechiae
2:28-29,30 abnormal placental margin associated with,
absent cavum septi pellucidi vs., 2:3, 5 9:10, 12
lateral intracranial cysts vs., 2:24, 26-27 linear echoes in amniotic fluid vs., 10:12, 13
severe, fluid-filled calvarium associated with, membranes in multiple gestations vs., 8:3, 4
2:15, 17 Syntelencephaly
Scrotal mass, 6:66-67 absent cavum septi pellucidi vs., 2:3, 5
Semilobar holoprosencephaly. See midline intracranial cyst vs., 2:18-19, 23
Holoprosencephaly, semilobar.
Septal defect. See Atrioventricular septal defect;
Ventricular septal defect. T
Septate uterus, 1:30, 33 Tachyarrhythmia
Septo-optic dysplasia, absent cavum septi pellucidi ascites associated with, 6:16, 17
associated with, 2:3, 5 hydrops associated with, 11:10, 12
Sex cord stromal tumor, adnexal mass in Tachycardia, supraventricular, 5:24, 25
pregnancy vs., 13:27 Teratogens
Short rib-polydactyly, 7:40 abnormal midface associated with, 3:13, 15
small chest associated with, 4: 15, 19 facial cleft associated with, 3:3
microcephaly associated with, 2:43, 45
xv
INDEX
>< Teratoma Thumbs
QJ
"'C abdominal calcifications vs., 6:19, 21 broad,7:37
C abnormal cardiac axis associated with, 5:2, 5 "hitchhiker," 7:37
adnexal, in pregnancy, 13:26, 27-28 Toes. See also Digit abnormalities.
cardiac mass vs., 5:26, 27 broad,7:37
cervical, 3:30-31, 33 overlapping, 7:37
cystic, midline intracranial cyst vs., 2:18, 22 Tongue, enlarged (macroglossia), 3:24-25
cystic abdominal mass vs., 6:33, 36 Toxoplasmosis
hydrops associated with, 11:10, 13 abnormal brain parenchyma related to, 2:28, 30
intracranial, 2:52, 54 intracranial calcifications related to, 2:50, 51
intracranial calcifications associated with, 2:50, Tracheal atresia, solid/echogenic lung mass
51 associated with, 4:7, 9
ovarian, in first trimester, 1:38, 40 Trachelectomy, short cervix related to, 12:3, 5
pericardia I, 4:7, 9 Transposition of great arteries, abnormal outflow
placental mass-like lesions vs., 9:15, 17 tracts associated with, 5:21, 23
sacrococcygeal Transverse lie, 11:20, 21
cardiomegaly associated with, 5:13, 15 Trauma
spinal mass vs., 2:64, 66 acute, in pregnancy, 13:11, 13
small/absent stomach vs., 6:7, 9 fetal, angulated bones vs., 7:19,23
solid abdominal mass vs., 6:38, 39 Treacher Collins syndrome, micrognathia
solid/echogenic lung mass vs., 4:7, 9 associated with, 3:6-7, 10
Testicular torsion, scrotal mass vs., 6:66, 67 Tricuspid atresia
Tetralogy of Fallot abnormal cardiac axis associated with, 5:8, 10
abnormal outflow tracts associated with, 5:20, abnormal outflow tracts associated with, 5:20,
22 21
with absent pulmonary valve, cardiomegaly cardiomegaly associated with, 5:12, 14
associated with, 5:12, 14 Tricuspid dysplasia, abnormal cardiac axis
Thanatophoric dysplasia associated with, 5:8, 10-11
abnormal midface associated with, 3:13 Trident hand, 7:37, 39
abnormal spine position associated with, 2:69, Triplets, first trimester membranes and, 1:30, 32
72 Triploidy
abnormal vertebral column associated with, intrauterine growth restriction associated with,
2:75,77 11:3,6
angulated bones associated with, 7:18, 19-20 placental sonolucencies associated with, 9:3, 5
severe limb shortening associated with, 7:12, placentomegaly associated with, 9:19, 21
13-14 syndactyly associated with, 7:36, 38, 42, 43
small chest associated with, 4:14, 16 Trisomy 13
Theca lutein cysts abnormal midface associated with, 3:12, 14
adnexal mass in pregnancy vs., 13:26-27, 27-28 ear abnormalities associated with, 3:22
adnexal mass vs., 1:38, 40 echogenic kidneys associated with, 6:50, 51
Third trimester, normal variant, echogenic facial cleft associated with, 3:2-3, 5
amniotic fluid vs., 10:10 increased nuchal translucency associated with,
Thoracic dysplasia, asphyxiating 1:20,22,24
abnormal spine position associated with, 2:69, intrauterine growth restriction associated with,
73 11:2-3,6
polydactyly associated with, 7:40 mild ventriculomegaly associated with, 2:7, 9
small chest associated with, 4:15, 19 polydactyly associated with, 7:36, 37, 40
Thoracic fluid collection, 4:2-5 Trisomy 18
Thoracopagus, in conjoined twins, 8:20, 21 abnormal beta HCG related to, 13:19, 21
Thrombocytopenia-absent radius syndrome, radial abnormal fetal posture/movement associated
ray malformation associated with, 7:26--27, 29 with, 7:2,4
Thrombosis abnormal foot associated with, 7:31
ovarian vein, postpartum pain/fever associated ear abnormalities associated with, 3:22
with, 14:6, 7 facial cleft associated with, 3:2, 4
umbilical cord, abnormal umbilical cord vs., hand abnormalities associated with, 7:39
9:27, 31 increased nuchal translucency associated with,
1:20,22,24
XVI
INDEX
intrauterine growth restriction associated with, polyhydramnios associated with, 10:6, 8
11:2,6 twin-related anomalies associated with, 8:14,
micrognathia associated with, 3:6, 8 16-17
mild ventriculomegaly associated with, 2:7, 9 Twins
radial ray malformation associated with, 7:26, anomalies, 8:14-19
28 differential diagnosis, 8:14-19
Trisomy 21 (Down syndrome) of one twin, 8:7, 9
abnormal beta HCG related to, 13:18-19,21 conjoined. See Conjoined twins.
abnormal foot associated with, 7:31 dichorionic diamniotic
abnormal midface associated with, 3:12, 14 first trimester membranes and, 1:30,32
ear abnormalities associated with, 3:22 linear echoes in amniotic fluid vs., 10:12, 14
echogenic bowel associated with, 6:10 membranes in, 8:2, 3
hepatomegaly associated with, 6:29 discordant growth, 8:6--9
hydrops associated with, 11:10, 14 asymmetric fluid distribution associated
increased nuchal translucency associated with, with, 8:10, 12-13
1:20,21,24 differential diagnosis, 8:6-9
macroglossia associated with, 3:24, 25 idiopathic and normal, 8:6, 7
mild pelviectasis associated with, 6:40, 41 monochorionic diamniotic, linear echoes in
mild ventriculomegaly associated with, 2:6, 7 amniotic fluid vs., 10:12, 14
mildly short femur/humerus associated with, monochorionic monoamniotic, membranes in,
7:8,10 8:2-3,4
tongue abnormalities associated with, 3:24, 25 first trimester, 1:30, 32
Trophoblastic disease, gestational, postpartum parasitic, conjoined twins associated with, 8:23,
hemorrhage associated with, 14:3,5 31
Truncus arteriosus, abnormal outflow tracts placentomegaly vs., 9:19, 20
associated with, 5:21, 23 types of twins, 8:2
Tubal ectopic pregnancy. See Ectopic pregnancy.
Tuberous sclerosis, abnormal brain parenchyma
related to, 2:29, 31 u
Turner syndrome (XO) Umbilical artery
abnormal foot associated with, 7:31 aneurysm, abnormal umbilical vessels vs., 9:33,
hydrops associated with, 11:10, 14 37
increased nuchal translucency associated with, hypoplastic, 9:32, 34
1:20,22,24 single, 9:32, 33
mildly short femur/humerus related to, 7:8, 10 intrauterine growth restriction associated
Twin demise with, 11:3, 7
bleeding with IUP related to, 1:3,5 Umbilical cord
differential diagnosis, 8:14, 15-16 abnormal,9:26--31
first trimester membranes and, 1:31,33 abnormal placental insertion, 9:22-25
Twin reversed arterial perfusion aneurysms
abnormal umbilical vessels associated with, abnormal placental insertion vs., 9:23, 25
9:33,36 abnormal umbilical vessels vs., 9:33
absent calvarium associated with, 2:33, 35 cyst
cardiomegaly associated with, 5:13, 15 abnormal placental insertion vs., 9:22, 24-25
discordant twin growth associated with, 8:7, 9 abnormal umbilical cord vs., 9:26, 27-28
in abnormal first trimester fetus, 1:25,29 fused cords, 9:32, 35
in twin-related anomalies, 8:18 hematoma, abnormal umbilical cord vs., 9:27,
Twin-twin transfusion syndrome 31
absent/small bladder associated with, 6:59, 61 insertion cysts, placental sonolucencies
asymmetric fluid distribution associated with, associated with, 9:2-3, 5
8:10, 11-12 knot, abnormal umbilical cord vs., 9:26-27,
cardiomegaly associated with, 5:12-13, 14 29-30
discordant twin growth associated with, 8:6, 8 marginal insertion
hydrops associated with, 11:11, 15 abnormal placental insertion vs., 9:22, 23-24
intrauterine growth restriction associated with, abnormal placental margin vs., 9:10, 12
11:3,7
oligohydramnios associated with, 10:3, 5
XVII
INDEX
nuchal (mimic) Cesarean section complications associated
increased nuchal translucency associated with, 13:22, 24
with, 1:21, 23 postpartum hemorrhage associated with,
neck mass associated with, 3:30, 32 14:3,4
short, abnormal umbilical cord vs., 9:27, 30 intrauterine blood clot, postpartum hemorrhage
thrombosis, abnormal umbilical cord vs., 9:27, associated with, 14:2, 3
31 myomatous, asymmetric fluid distribution
velamentous insertion associated with, 8:10-11, 12-13
abnormal placental insertion vs., 9:22, 24 rupture
abnormal umbilical vessels vs., 9:32, 34 Cesarean section complications associated
Umbilical vein with, 13:22-23, 24
persistent right, 9:32, 34 delayed, Cesarean section complications
varix, 9:33, 37 associated with, 13:23, 25
Umbilical vessels in pregnancy, 13:11, 13
abnormal,9:32-37 postpartum hemorrhage associated with,
disruption, echogenic amniotic fluid vs., 10:10, 14:3,4
11 postpartum pain/fever associated with, 14:6,
Urachal anomalies, cystic abdominal mass vs., 7
6:33,37 sarcoma, uterine/cervical mass vs., 12:7
Ureterocele, fetal hydronephrosis vs., 6:43, 45 septate, 1:30, 33
Ureteropelvic junction obstruction septum, linear echoes in amniotic fluid vs.,
bilateral, absent/small bladder vs., 6:58, 60 10:13, 14
cystic abdominal mass vs., 6:32, 34
early, mild pelviectasis associated with, 6:40, 41
fetal hydronephrosis associated with, 6:42, 43 v
oligohydramnios associated with, 10:2, 4 VACTERLassociation
unilateral, polyhydramnios associated with, abnormal spine position associated with,
10:7,9 2:68-69, 71
Ureterovesicle junction obstruction, fetal abnormal vertebral column associated with,
hydronephrosis associated with, 6:42, 44 2:74-75,76
Urethral atresia radial ray malformation associated with, 7:26,
large abdominal circumference associated with, 27
6:23,26 Valproic acid syndrome
large bladder associated with, 6:56, 57 facial cleft associated with, 3:3
Urethral valves, posterior fetal, radial ray malformation associated with,
complete, small chest associated with, 4:14, 16 7:27,29
fetal hydronephrosis associated with, 6:42, 44 microcephaly associated with, 2:43, 45
large abdominal circumference associated with, Varicella, intracranial calcifications associated with,
6:23,26 2:50,51
large bladder associated with, 6:56 Vasa previa
oligohydramnios associated with, 10:2-3, 5 abnormal placental insertion vs., 9:22-23, 25
Urinary tract. See Bladder; Genitourinary tract; abnormal placental margin vs., 9:11, 13
Kidneys. antepartum hemorrhage vs., 13:7,9
Urinoma, cystic abdominal mass vs., 6:32, 34 Vascular malformations, hydrops associated with,
Uterine/cervical mass, 12:6-9 11:13
Uterine duplication Vein of Galen malformation
abnormal sac position related to, 1:16, 18 cardiomegaly associated with, 5:13, 15
membranes in multiple gestations vs., 8:3, 5 midline intracranial cyst vs., 2:19, 23
short cervix vs., 12:3, 5 posterior fossa cyst/fluid collection vs., 2:57, 59
uterine/cervical mass vs., 12:6-7, 8-9 Ventricular septal defect, 5:16-19. See also
Uterine size Atrioventricular septal defect.
< dates, 13:2-3 increased nuchal translucency related to, 1:23
> dates, 13:4-5 inlet, 5:16, 18
Uterus isolated, 5:16
atony, postpartum hemorrhage associated with, muscular, 5:16,17-18
14:2,3 outlet, 5:16
dehiscence
xviii
INDEX
peri membranous, 5:16, 18
with complex congenital heart disease, 5:16-17,
18-19
Ventriculomegaly, mild, 2:6-9
Vertebrae
abnormal vertebral column, 2:74-77
segmentation and fusion anomalies, 2:74, 76
abnormal fetal posture/movement associated
with, 7:3, 7
vertebral anomaly, abnormal spine position
associated with, 2:69, 71-72
Vesicoureteral reflux, fetal hydronephrosis
Volvulus
dilated bowel vs., 6:13, 15
large abdominal circumference vs., 6:22, 24
W
Warfarin (coumadin) exposure, abnormal midface
Wharton jelly, cystic, abnormal umbilical cord vs.,
9:26,28
y
Yolk sac, abnormal, abnormal sac contents vs.,
1:12, 13-14
XIX

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Compmition by Ami"y\, Inc., Salt I.ake City, Vt"b

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I ihrary of ( ongrl'\\ Cataloging-in-Publication Data

hpertdd" Oil\tetriC\ / ledited b\'1 Paula J. Woodward, -- 1 ,t cd.

Our EXPERTddx series is designed to help radiologists reach reliable-indeed, expert--conclusions.

Medical Text Editing

Art Direction and Design

Abnormal Brain Parenchyma 2-28

Absent/Small Bladder 6-58

Abnormal Outflow Tracts 5-20

Cardiac Mass 5-26 Abnormal Fetal Posture/Movement 7-2

Abdominal Wall Defect 6-2 Abnormal Ossification 7-24

Abdominal Calcifications 6-18

Cystic Abdominal Mass 6-32 Discordant Twin Growth 8-6

Solid Abdominal Mass 6-38 Asymmetric Fluid Distribution 8-10

Renal Enlargement 6-46

Fetal Anemia 11-16

Uterine/Cervical Mass 12-6

• Twin Demise • History of endometriosis ~

Sagittal transalxlominal ultrasound shows an apparently

Perigestational Hemorrhage Perigestational Hemorrhage

Early Normal Pregnancy Early Normal Pregnancy

Partial Mole Partial Mole

Twin Demise Twin Demise

Cervical Ectopic Cervical Ectopic

(Right) Sagittal transvaginal

Cervical Ectopic C-section Scar Ectopic

C-section Scar Ectopic Heterotopic Pregnancy

Heterotopic Pregnancy Heterotopic Pregnancy

DIFFERENTIAL DIAGNOSIS Helpful Clues for Common Diagnoses

Complete Abortion Complete Abortion

Sagittal transvaginal ultrasound shows an empty Ulerus

r! Very Early Normal Pregnancy

Retained Products of Conception Tubal Ectopic

Tubal Ectopic Tubal Ectopic

Complete Hydatidiform Mole Complete Hydatidiform Mole

• Partial Mole • Central nervous system:

source of third set of chromosomes omphalocele

Anembryonic Pregnancy Abnormal Yolk Sac

Coronal transvaginal ultrasound shows an abnormal

~ Abnormal Yolk Sac

Embryonic Demise Embryonic Demise

Pseudosac in Ectopic Pregnancy Pseudosac in Ectopic Pregnancy

Partial Mole Invasive Mole

Chorionic Bump Chorionic Bump

o Assess for "hourglass" shape of uterus • Abdominal Ectopic

Spontaneous Abortion Spontaneous Abortion

Sagittal transvaginal ultrasound shows an amorphous 8

Spontaneous Abortion Tubal Ectopic

Tubal Ectopic Uterine Duplication

Interstitial Ectopic Cervical Ectopic

ultrasound shows an empty

C-Section Scar Ectopic

Abdominal Ectopic Abdominal Ectopic

Sagitlal ultrasound shows increased NT (calipers) and

u:: (Left) Sagiltal ultrasound

shows increased NT 11:1 and

Turner Syndrome (XO) Turner Syndrome (XO)

Ventricular Septal Defect Ventricular Septal Defect