EXPERT DDX - Obstetrics - P. Woodward, Et. Al., (Amirsys, 2009) WW PDF
EXPERT DDX - Obstetrics - P. Woodward, Et. Al., (Amirsys, 2009) WW PDF
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
Professor of Radiology
Adjunct Professor of Obstetrics and Gynecology
Director of Women's Imaging
University of Utah School of Medicine
Salt Lake City, Utah
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
University of Utah School of Medicine
Salt Lake City, Utah
Michael D. Puchalski, MD
Assistant Professor Pediatrics
Adjunct Assistant Professor of Radiology
Director of Noninvasive Imaging
University of Utah School of Medicine
Salt Lake City, Utah
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iv
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.
Anne G. Osborn, MD
Executive Vice President and Editor-in-Chief, Amirsys Inc.
Paula J. Woodward, MD
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.
Paula J. Woodward, MD
Professor of Radiology
Adjunct Professor of Obstetrics and Gynecology
University of Utah School of Medicine
Salt Lake City, Utah
ix
x
ACKNOWLEDGMENTS
Text Editing
Douglas Grant Jackson
Ashley R. Renlund, MA
KeJlie J. Heap
Image Editing
Jeffrey J. Marmorstone
Mitch D. Curinga
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
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
xv
SECTION 11
Growth and Well Being
Intrauterine Growth Restriction 11-2
Roya Solwey, MD
Macrosomia 11-8
Roya Solwey, MD
Hydrops ll-lO
Pallia I. Woodward, MD
SECTION 12
uterus-Cervix
Short Cervix 12-2
Am1e Kennedy, 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
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.
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.
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
ultrasound in the same case
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).
1
6
BLEEDING WITH IUP
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
• 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
-
';:
I-
=-
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
ultrasound in the same case
10 days later shows interval
development of a normal
IUP with an embryo
Short term follow-up scans
=
are very useful in early
pregnancy.
1
10
BLEEDING WITHOUT VISIBLE IUP .."
-
;i0
-t
:l.
3
CD
Tubal Ectopic Tubal Ectopic ~
..•
(Left) Sagittal transvaginal
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.
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 ."
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
embryo =
a triangular yolk sac. The
had bradycardia
with heart rate of 90 bpm.
Spontaneous miscarriage
occurred before the
tollow-up examination.
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=-
1
14
ABNORMAL SAC CONTENTS "TI
~.
..•.
..•
-t
3'
CD
Ul
Retained Products of Conception Complete Hydatidiform Mole iD
..•
(Left) Color Doppler
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.
=-
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.
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
Helpful Clues for Common Diagnoses
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
-e
";:
I-
1
18
ABNORMAL SAC POSITION ."
..
:;"
-I
:I.
3
CD
CIl
Cervical Ectopic Cervical Ectopic
(Leh) Sagittal transvaginal
..•
CD
pregnancy =
shows an intrauterine
at 6 weeks 4
days. In addition, there is an
associated left adnexal
gestational sac and live
embryo III.
1
19
... INCREASED NUCHAL TRANSLUCENCY
~
Gl
E o Abnormal DV waveform
DIFFERENTIAL DIAGNOSIS
-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
Trisomy 13 Trisomy 13
(Left) Sagittal ultrasound
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.
1
22
INCREASED NUCHAL TRANSLUCENCY
.
patient's chorionic villus
\;."
'WI' ••
.
scanning shows a ventricular
-.-. ...•....
. - . septal defect _ The left
ventricle =:I and right
HI
~
................••
'~
ventricle
normal.
are otherwise
1Iii~
..~- .
1
23
ABNORMAL FIRST TRIMESTER FETUS
.•..•
;;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
Helpful Clues for Rare Diagnoses
.•..•
ft)
III
ft)
~
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
ultrasound shows a large
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.
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
transabdominal ultrasound in
the same fetus as the prior
image at 12.5 wks shows
exencephaly with absent
calvarium.
neural tissue =
and exposed
~.~--~
..~
.
. •
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
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.
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.
1
29
FIRST TRIMESTER MEMBRANES
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
1
32
FIRST TRIMESTER MEMBRANES
"[
-t
~.
3
CD
1
33
FIRST TRIMESTER PELVIC PAIN
Hemorrhagic Cyst
(Left) Sagittallransvaginal
ultrasound shows an empty
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.
1
36
FIRST TRIMESTER PELVIC PAIN
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
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
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.
(Left) Longitudinal
transvaginal ultrasound
shows a thin-walled, tubular
cystic structure" in the
right adnexa, consistent with
a hydrosalpinx. (Right)
Sagittal transvaginal
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
2
2
ABSENT CAVUM SEPTI PELLUCIDI o
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
~
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
color Doppler ultrasound in
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.
=
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.
=-
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
• 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
-
'!
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.
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.
Trisomy 13 Trisomy 13
(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
=
(Left) Axial ullrasound shows
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
• Dandy-Walker Continuum: Classic
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 Less Common Diagnoses
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
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
: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.
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.
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
..
'!
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
• Dandy-Walker Continuum: Classic
• 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
:;,
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.
=-
partial anterior brain mantle
There is no falx or
significant/aleral ventricle
cleavage. Instead, there is a
monoventricle. (Right)
Coronal oblique ultrasound
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
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
Helpful Clues for less Common Diagnoses
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
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)
Coronal T2WI MR shows
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.
2
21
E INTRACRANIAL CYSTS: MIDLINE
.!
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.
2
22
INTRACRANIAL CYSTS: MIDLINE (")
-
CD
:l
!.
z
CD
:2
o
C
(Left) Coronal T2WI MR III
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.
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
Schizencephaly Schizencephaly
(Left) Axial oblique
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.
Porencephaly
(Left) Axial ultrasound shows
an irregular porencephalic
cyst IIIextending {rom the
lateral ventricle. Note the
associated echogenic
ependyma and
intraventricularclot" This
indicates a grade 4
intracranial hemorrhage.
(Right) Coronal T2WI MR in
the same patient shows a
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
• 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
encephalomalacia
Eliology of lhe bleed was
=-
intraventricular clot _ and
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
(Left) Axial ultrasound shows
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
same case as previous image
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
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
Helpful Clues for Less Common Diagnoses
• Amniotic Band Syndrome
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
z
CD
o Hypophosphatasia o Amniotic band syndrome C!
o
c:
• Thin, bowed long bones • No significant recurrence risk III
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.
neural tissue ==
bowel and liver
2
34
ABSENT CALVARIUM (")
..
CD
:l
••
Dl
Z
CD
~
Hypophosphatasia o
(Left) Axial ullrasound shows
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
Helpful Clues for Common Diagnoses
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
: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.
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
(Left) Coronal ultrasound
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.
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
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 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.
(Right) Coronal T1WI MR
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
>-
!/)
DIFFERENTIAL DIAGNOSIS
MICROCEPHALY
III
:J
Helpful Clues for Common Diagnoses
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 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
Other Essential Information
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
-
~
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
transvaginal ultrasound
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
(Left) Sagittal T2WI MR
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 ~
2
44
MICROCEPHALY o
-
CD
::J
~
!!!.
z
CD
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
: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 ~
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.
(Right) Axial ultrasound
=
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.
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
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.
(Right) Coronal ultrasound
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
Helpful Clues for Common Diagnoses
..
~
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
52
o
• Craniopharyngioma
INTRACRANIAL MASS
=.
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
(Right) Axial oblique
transabdominal ultrasound
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
(Left) Coronal T2WI MR
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
(Leh) Axial ultrasound shows
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.
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
• Dandy-Walker Continuum: Classic
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
• Dandy-Walker Continuum: Classic
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
Helpful Clues for Common Diagnoses
• 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
-
'!
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.
brainstem =-
cyst III in contact with the
which was
flauened. The vermis was
absent, and the cerebellar
hemispheres were
hypoplastic.
2
58
POSTERIOR FOSSA CYST/FLUID COLLECTION o
CD
a
~
z
CD
~
Arachnoid Cyst o
C
(Left) Coronal T2WI MR III
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.
Arteriovenous Fistula
(Left) Axial oblique color
flow =
Doppler ultrasound shows
within a large,
midline, elongated "cyst". It
is important to pur Doppler
on cystic appearing lesions
to rule out a vascular
malformation. (Right)
Coronal T2WI MR shows
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
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.
Joubert Syndrome
(Left) Axial T2WI MR shows
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
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
Myeloschisis
(Left) Sagittal T2WI MR
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.
(Right) Axial T2WI MR
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.
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.
(Right) Axial T2WI MR
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.
2
67
ABNORMAL SPINE POSITION
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
69
ABNORMAL SPINE POSITION
2
70
ABNORMAL SPINE POSITION o
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'
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.
liver
band.
=
apparently "resting" on its
Note the apparent
==
the third trimester. Note
lumbar kyphosis severe
platyspondyly and
polyhydramnios. Trident
hand and metaphyseal
flaring were also seen.
(Right) Coronal ultrasound of
the spine shows
thoracolumbar kyphosis Il!lI
with narrow interpedicular
distance ~ in a fetus with
heterozygous
achondroplasia.
2
72
ABNORMAL SPINE POSITION o
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.
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
III DIFFERENTIAL DIAGNOSIS o
: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
Key Differential Diagnosis Issues
• 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
• 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
-
~
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
ultrasound in the same case
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.
2
76
ABNORMAL VERTEBRAL COLUMN o
CD
:l
[
Z
CD
encephalocele =.
IOrsO" and large occipital
confident diagnosis of
allowing
iniencephaly.
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
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
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.
Trisomy 18 Trisomy 18
(Left) Coronal ultrasound
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
(')
~
Trisomy 13 Trisomy 13
(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.
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
Technical Technical
-
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.
Trisomy 18 Trisomy 18
(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
transabdominal ultrasound
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'"
shows hypertelorism
externalized brain.
=
transabdominal ultrasound
and a
small mandible SII. (Right)
Transabdominal ultrasound
displacement of tongue) ~
typical of Pierre Robin
syndrome. Lissencephaly and
heterotopia were also
confirmed.
3
9
.a:
o MICROGNATHIA
GI
Z
Gi
o
l'lI
u,
Diabetic Embryopathy
(Left) Coronal ultrasound
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
=.
microtia =
as previous image, shows
as well as the
severe micrognathia 1m.
3
10
MICROGNATHIA ."
Dl
n
!t
Z
CD
n
~
Cornelia de lange Syndrome Cornelia de lange Syndrome
(Left) Transabdominal
ultrasound in the same case
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
transabdominal ultrasound
shows polyhydramnios and
severe micrognathia •.
(Right) Clinical photograph
of the infant shows the
typical features of
otocephaly including
microstomia III synotia
(low-set medially rotated
ears) 111 and agnathia EilI.
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
Key Differential Diagnosis Issues
• 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% ~
Other Essential Information
• 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)
=
Holoprosencephaly Spectrum Holoprosencephaly Spectrum
(Left) Sagittal T2WI MR
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
~
Holoprosencephaly Spectrum Holoprosencephaly Spectrum
(Leh) Sagittal ultrasound
shows a midline orbit =
. =
above which ;5 a proboscis
.. '.
in a fetus with cyclopia
.- -
,..•":,.,..•.
~..
~ and holoprosencephaly.
(Right) Sagittal ultrasound of
.~ ..
,
,-
.~
~
~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
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
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
(Left) Coronal ultrasound
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
(Left) Axial ultrasound shows
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)
Clinical photograph of the
same case shows
hypertelorism as well as a
markedly misshapen head
from craniosynostosis.
3
18
ABNORMAL EYES ."
III
n
!!.
z
CD
n
~
Hypertelorism Hypertelorism
(Left) Coronal ultrasound
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
transabdominal ultrasound
shows an increased
interocular distance. and
a consistently clenched hand
lEI from syndactyly in this
fetus with Apert syndrome.
(Right) Clinical photograph
shows hypertelorism in the
same fetus with Apert
syndrome.
Hypertelorism
(Left) Axial ultrasound shows
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
(Leh) Axial ultrasound
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.
=
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
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"
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
Helpful Clues for less Common Diagnoses
• 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
Other Essential Information
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
syndrome. =.
Collins syndrome shows micrognathia. The mandible is
small and recessed
22
ABNORMAL EARS "TI
III
n
!!..
z
CIl
,..
n
=
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
Protruding Ear
(Left) Coronal ultrasound
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
Idiopathic Idiopathic
3
25
FACIAL MASS
Premaxillary Protrusion
3
28
FACIAL MASS ."
III
n
!t
Z
CD
n
~
Epignathus
(Leh) Sagittal T2WI MR
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.
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
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
Helpful Clues for Rare Diagnoses
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
-
Z
CI>
U
"'
u..
3
32
NECK MASS
"
II>
n
lD
Z
lD
n
~
=
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
=
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
Helpful Clues for Less Common Diagnoses
-
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
3
-
J::
o
1Il
GI
THORACIC FLUID COLLECTION
Hydrothorax Hydrothorax
(Leh) Axial ultrasound shows
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
(Left) Sagittal ultrasound
shows the right hemithorax
in a fetus with
supraventricular tachycardia
and pleural effusions. Fluid
can actually be seen tracking
in the major fissure •.
(Right) Sagittal ultrasound
pleural effusion =
shows a small isolated
=-
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
Unilocular CCAM
(Leh) Axial ultrasound shows
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
• 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
Other Essential Information
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
Axial transabdominal
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
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
••
pericardial effusion
(Right) Sagittal color
=
surrounded by a massive
4
9
CYSTIC LUNG MASS
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
4
12
CYSTIC LUNG MASS o
~
lD
III
••
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
(Leh) Coronal ultrasound
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
=-
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
4
16
SMAll CHEST o
~
-
C1l
(II
Achondroplasia Achondroplasia
(Leh) Sagittal ultrasound
=
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.
Achondrogenesis Achondrogenesis
(Left) Sagittal ultrasound
focused on the ribs lIIlI of the
same fetus shows they are
very short and "beaded", the
result of rib fractures. (Right)
Axial oblique ultrasound
shows the calvarium is
deformed by transducer
pressure lIIlI. These findings
are characteristic of
achondrogenesis type I A,
which was confirmed at
autopsy.
Achondrogenesis Achondrogenesis
(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
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
ultrasound through the chest
shows the ribs =
short and horizontal.
are very
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
• 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
5
4
ABNORMAL CARDIAC AXIS o
..•
III
a.
iii'
n
Chamber Asymmetry
(Left) Four chamber view
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
to mitral atresia=.
lelt ventricle (LV) secondary
Lelt
atrium (LA), right ventricle
(RV).
abnormal axis =.
16 weeks shows an
although
the apex ED is pointed lelt.
Final diagnosis was
left-dominant, unbalanced
atrioventricular septal defect
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
(Left) Axial T2WI MR shows
the heart =
a normal right lung = with
touching the
left chest wall due to left
pulmonary agenesis. (Right)
Gross pathology in the same
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.
mass effect
of the liver.
=
diaphragm ~ Note the
on the dome
5
7
(J
.!! CHAMBER ASYMMETRY
•..
'tI
CII
U o Right ventricle is large
DIFFERENTIAL DIAGNOSIS
• 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
Helpful Clues for Less Common Diagnoses
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
5
10
CHAMBER ASYMMETRY
..
o
III
C-
Di'
n
Ebstein Anomaly
(Left) Four chamber view
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.
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.
5
11
u CARDIOMEGALY
.!!!
•..
'0
III
(J o Are the leaflets thickened/dysplastic?
DIFFERENTIAL DIAGNOSIS
Common Helpful Clues for Common Diagnoses
• 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
Key Differential Diagnosis Issues
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
5
14
CARDIOMEGALY
..
(")
III
Q.
i"
n
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
DIFFERENTIAL DIAGNOSIS
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
defecl =
muscular ventricular septal
with flow into the
right ventricle IJ:l. Note
laminar flow oul the aortic
valve HI. Left ventricle (LV).
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).
5
18
(")
SEPTAL DEFECT
...c-
Dl
oj"
n
VSD with Complex Congenital Heart VSD with Complex Congenital Heart
Disease Disease
(Leh) Four chamber view
echocardiogram shows a
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
echocardiogram shows the
aorta = overriding the
interventricular septum •.
Additional imaging showed
this patient had findings
consistent with tetralogy of
Fallot. Left ventricle (LV),
right ventricle (RV).
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
Key Differential Diagnosis Issues
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
Helpful Clues for Less Common Diagnoses
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
Helpful Clues for Rare Diagnoses
• Interrupted Aortic Arch (IAA)
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
()
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).
5
22
ABNORMAL OUTflOW TRACTS o
..,
III
Q.
iii'
n
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
Other Essential Information
• 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
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
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
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
echocardiogram shows a
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
echocardiogram shows a
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.
(Right) Four chamber view
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
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
should not be confused with
an omphalocele.
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.
(Right) Clinical photograph
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.
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
• Congenital Diaphragmatic Hernia
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
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.
6
8
SMALL/ABSENT STOMACH »
c-
o.
o
3
CD
:::l
Goiter
(Left) Sagittal T2WI MR
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
(Left) Coronal ultrasound
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
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.
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.
oligohydramnios and
intrauterine growth
restriction. The cause for the
'UCR in this case was severe
placental insufficiency.
(Right) Axial oblique
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
Key Differential Diagnosis Issues
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)
the jejunum =-
(Left) Axial ultrasound shows
mid-abdomen.
Polyhydramnios is present,
and the amniotic fluid
contains echogenic debris.
(Right) Coronal oblique
color Doppler ultrasound
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.
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.
=
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
"marbles" =-
echogenic, meconium
which moved
on real·Lime exam. This
appearance is suspicious for
anal atresia with a
vesicocolic fistula. (Right)
Axial transabdominal
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
ultrasound shows an unusual
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
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
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
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
Key Differential Diagnosis Issues
• 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
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.
6
20
ABDOMINAL CALCIFICATIONS >
C"
Co
o
3
11I
::s
calcilied meconium A
vesicocolic fistula and anal
atresia were confirmed
postnatally.
Teratoma Teratoma
(Leh) Axial ultrasound shows
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
Key Differential Diagnosis Issues
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
Helpful Clues for Less Common Diagnoses
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
o Associated polyhydramnios or
oligohydramnios
Macrosomia Diabetes
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
(Left) Axial ultrasound shows
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
photograph shows the
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
(Leh) Axial ultrasound shows
a large, irregular meconium
pseudocyst in the abdomen
of a mid-trimester fetus. Note
the echogenic rind lEI
around the pseudocyst
(Right) Clinical photograph
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.
6
25
I: LARGE ABDOMINAL CIRCUMFERENCE
CD
E
o
't:I
,Q
c(
6
26
LARGE ABDOMINAL CIRCUMFERENCE ;a.
c-
o.
o
3
CD
::I
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
Helpful Clues for Rare Diagnoses
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
rim of ascites =-
skin thickening lID and a thin
(Right)
Axial oblique ultrasound
shows hepatomegaly with
hyperechoic foci =
multiple, non-shadowing,
=
syndrome. The fetal tongue
is enlarged and
persistently protrudes from
the mouth. (Right) Axial
ultrasound in the same case
shows the bowe/lE!ll
displaced to the middle of
6
30
HEPATOMEGALY »
g-
o.
o
3
CD
:l
Hemangioendothelioma Hemangioendothelioma
(Leh) Axial ultrasound shows
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
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
Key Differential Diagnosis Issues
• 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
Helpful Clues for Rare Diagnoses
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
• Fetus-in-Fetu, Teratoma
• 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
33
C
Gl CYSTIC ABDOMINAL MASS
E
o
"0
..Q
c(
space =-
collecting in the perirenal
Note how the
fluid is surrounding and
compressing the kidney,
classic features of a urinoma.
Meconium Pseudocyst
(Leh) Coronal ultrasound
=
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
=
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
(Left) Coronal ultrasound of
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.
(Right) Axial oblique
=
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.
a thick-walled cyst =
(Left) Axial ultrasound shows
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
(Left) Axial ultrasound shows
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.
=
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
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.
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
Helpful Clues for Less Common Diagnoses
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
=-
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
(Left) Coronal ultrasound
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)
Gross pathology in the same
case shows the adrenal mass
compressing the upper pole
of the kidney. Histology
confirmed a neuroblastoma,
which was confined to the
adrenal gland.
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%)
~ ... . ..
~ Dist
----1----
= 0.47cm
_~ ....•. ----2---- .•
••• :::•• Dist
-,~ -..•.•.. = O.58cm
Trisomy 21 (T21)
(Left) Axial ultrasound shows
distention =-
bilateral mild renal pelvis
(Right) Axial
ultrasound through the fetal
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/.
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.
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
o Ultrasound findings
• 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
=
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
(Leh) Coronal ultrasound
shows a non-duplicated,
hydronephrotic kidney
with ureteral dilatation ~
=
and a focal 'cystic"
distention at the UVj BII.
(Right) Axial ultrasound
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.
a large bladder =
(Leh) Axial ultrasound shows
hydronephrosis E!Il
and
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
Helpful Clues for Common Diagnoses
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
=
shows bilateral, large kidneys
with multiple
macroscopic cysts. There is
also anhydramnios. When
bilateral, MCDK is a lethal
malformation. (Right)
Coronal ultrasound shows
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.
6
48
RENAL ENLARGEMENT >
c-
o.
o
3
ell
:l
enlargement =
but slightly asymmetric renal
in this fetus
with Beckwith-Wiedemann
syndrome. Note that renal
echogenicity & contour are
preserved.
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
Helpful Clues for Less Common Diagnoses
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
Trisomy 13 Trisomy 13
(Left) Sagittal ultrasound of a
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.
shows 6 toes =.
the foot, in the same case,
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%
=-
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.
=-
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
Helpful Clues for Common Diagnoses Other Essential Information
• Bilateral Renal Agenesis • Uterine anomalies associated with renal
o No demonstrable renal tissue anomalies, especially 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
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,
56
hydronephrosis •• =.
made by angling the transducer towards the bladder
base, showing the dilated posterior urelhra
LARGE BLADDER »
cr
Co
o
3
CD
~
=
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.
(Right) Sagittal ultrasound
shows fetal bladder
distension. & increased
nuchal translucency PIa in a
fetus with trisomy /8.
Approximately 25% of /st
trimester fetuses with
megacystis have aneuploidy.
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
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.
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 =.
6
60
ABSENT/SMALL BLADDER >
c-
o.
o
3
~
::;,
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
=.
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
(Left) Sagittal ultrasound
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
(Left) Coronal ultrasound
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
Helpful Clues for Common Diagnoses
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
Helpful Clues for Rare Diagnoses
• 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
Microphallus Microphallus
(Left) Axial ultrasound shows
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.
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
:;,
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
-
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
Trisomy 18 Trisomy 18
(Left) Transabdominal
ultrasound shows a typical
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
7
4
ABNORMAL FETAL POSTURE/MOVEMENT ~
c:
UI
n
c:
0"
UI
~
Fetal Constraint Fetal Constraint
(Left) Coronal ultrasound
.•
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.
7
5
ABNORMAL FETAL POSTURE/MOVEMENT
7
6
ABNORMAL FETAL POSTURE/MOVEMENT
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.
•.
=-
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.
(Right) Clinical photograph
shows axillary lID and
anterior nuchal E!lI pterygia
in a stillborn infant with
multiple pterygium
syndrome.
7
7
MILDLY SHORT FEMUR/HUMERUS
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
MILDLY SHORT FEMUR/HUMERUS
Trisomy 21 Trisomy 21
(Left) Axial ultrasound shows
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
ultrasound of the same fetus
shows c/inodactyly =.:II.
Additional findings of trisomy
21 a/50 were present.
Amniocentesis confirmed the
diagnosis.
Trisomy 21 Trisomy 21
(Left) Axial ultrasound shows
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.
cystic hygroma =
shows the associated large
7
10
MILDLY SHORT FEMUR/HUMERUS
Osteogenesis Imperfecta
(Leh) Axial ultrasound shows
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
ultrasound of the same fetus
shows the irregular
"beaded" appearance of the
letal ribs __ again due to
multiple fractures. There is
also poor mineralization of
the osseous structures.
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
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
Helpful Clues for Rare Diagnoses
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
Thanatophoric Dysplasia
(Left) Ultrasound shows the
=
very short radius and ulna
in the forearm of a
mid-trimester fetus with TO.
(Right) Axial ultrasound
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.
Thanatophoric Dysplasia
(Leh) Clinical photograph
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 =
(Left) Ultrasound shows the
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
ultrasound shows the
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.
(Left) Anteroposterior
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
SEVERE LIMB SHORTENING
=
fetus with bilateral microtia
and micrognathia EB
Achondrogenesis Achondrogenesis
(Left) Sagittal ultrasound
shows severe
hypomineralization 11II in the
spine of a fetus with
achondrogenesis. The small
chest BI and protuberant
abdomen IIlI are also seen.
(Right) Coronal ultrasound
shows the underossified
spine" in the same fetus
with achondrogenesis.
Achondrogenesis
(Leh) Clinical photograph
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
~
(Left) Anteroposterior
.•
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.
7
17
ANGUlATED BONES
Thanatophoric Dysplasia
...:
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.
Osteogenesis Imperfecta
(Left) Clinical photograph
shows typical appearance of
the lower extremities in
perinatal lethal 01 type If.
Pseudoarthroses ~ are due
to multiple fractures in utero.
(Right) Sagittal ultrasound
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
~
(Left) Anteroposterior
..
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
photograph shows the same
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
Diabetic Embryopathy
(Left) Clinical photograph
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
(Left) Coronal ultrasound
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
(Left) Coronal ultrasound
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.
=
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.
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
Achondrogenesis
(Left) Sagittal ultrasound
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
(Left) Coronal ultrasound
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
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
Key Differential Diagnosis Issues
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
Helpful Clues for Common Diagnoses
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
Other Essential Information
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
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.
7
28
RADIAL RAY MALFORMATION ~
C
III
C'l
c
0"
III
Thrombocytopenia-Absent Radius ~
Thrombocytopenia-Absent
Syndrome
Radius
Syndrome
(Left) Ultrasound shows the
.•
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
(Left) Ultrasound shows the
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.
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
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
(Left) Coronal 3D ultrasound
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.
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.
(Right) Clinical photograph
shows bilateral rockerbottom
feet in a premature stillborn
neonate with trisomy 13.
Note the prominent
calcaneus and dorsiflexed
great toes.
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 •.
(Right) Clinical photograph
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.
7
33
ABNORMAL FOOT
deformities =
shows the extremity
corresponds
to the finding on ultrasound},
as well as a large abdominal
wall defect.
remaining digits
in a "lobster claw"
=
with syndactyly of the
resulting
oligodactyly =
Coronal ultrasound shows
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.
leet =
complex abnormalities 01 the
in this stillborn letus
with bilateral renal agenesis
and sirenomelia.
Sirenomelia
(Left) Sagittal ultrasound
shows the very abnormal
lower extremity in this
mid-trimester fetus with
sirenomelia. There is a single
lemur BI
leg bone =
and a single lower
without a loot.
(Right) Clinical photograph
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
-
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
Diabetic Embryopathy
(Left) Clinical photograph
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
(Left) Coronal ultrasound
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
'.'
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)
Clinical photograph shows
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)
Clinical photograph shows
significant brachydactyly and
a "trident hand" III in a
stillborn felUs with
thanatophoric dysplasia.
Note the tiny chest ~
associated with severe
pulmonary hypoplasia.
7
39
-
III
Gl
Gi
~
1/1
POLYDACTYlY
Smith-lemli-Opitz Syndrome
(Left) Ultrasound shows the
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.
(Right) Clinical photograph
shows the hand of the same
infant at birth. Postaxial
polydactyly is seen 11IIII as
well as camptodactyly of
multiple digilS 11IIII.
7
41
SYNDACTYlY
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
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
Key Differential Diagnosis Issues
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
Helpful Clues for Less Common Diagnoses
• 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
• Amniotic Band Syndrome
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
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)
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
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
8
8
DISCORDANT TWIN GROWTH
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
8
12
ASYMMETRIC FLUID DISTRIBUTION
=
multiple large transmural
myomata
8
13
TWIN RELATED ANOMALIES
• ~ 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
= 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)
Axial transabdominal
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").
8
16
TWIN RELATED ANOMALIES ~
c
i:E
'tI
iii
G)
and polyhydramnios
reflecting volume overload.
=
twin, shows a full bladder 81
(Right) Transabdominal
ultrasound shows
oligohydramnios around a
donor twin with the
inter-twin membrane =
closely applied to the fetus.
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.
(Right) Clinical photograph
confirms
thoracoomphalopagus twins
joined at the chest and
=
abdomen. An omphalocele
is often a component of
omphalopagus conjoined
twinning.
limbs =
(calipers) adjacent to the
co-twin.
of the normal
8
18
TWIN RELATED ANOMALIES ~
c:
~
"tJ
ii'
Q
Fetus-in-Fetu Felus-in-Felu
(Left) Coronal
transabdominal ultrasound
--
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
DIFFERENTIAL DIAGNOSIS Helpful Clues for Common Diagnoses
• 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
-
;:
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
pulmonary hypoplasia.
=-
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)
Axial transabdominal
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
transabdominal ultrasound
shows Iwo separale heads
!Ill wilh a single IOrso
and two upper extremities
=
Ell. This pregnancy was
terminated.
=
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
-
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)
Sagittal ultrasound shows a
large relroplacental and
marginal abruplion. The
hematoma morphology is
complex and cystic" and
the abruption /if Is the
placenta EllI off the
myometrium.
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.
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
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
-
all
III
c:
GI
U
III
ultrasound in a patient with
complete placenta previa
and bleeding shows the
placenta !Ill covering the
ii: cervix HI. In addition, there
is a subtle subplacental
abruption anteriorly =:I.
(Right) Sagittal transvaginal
ultrasound shows the
cervical canal =:I distended
with blood. The closed
portion of the cervix HI is
short.
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
transvaginal ultrasound
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.
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
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
(Left) Sagittal ultrasound
-
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
placenta =
A significant amount of
this synechia.
is implanted on
attachment =
the umbilical cord
on the lateral
edge of the posterior
placenta _ (Right) Axial
color Doppler ultrasound
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.
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
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
Helpful Clues for Less Common Diagnoses
• 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
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
(Left) Sagiltal ultrasound
..
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.
myoma =
shows a more heterogeneous
The placenta HI
is again seen implanting
directly upon the myoma.
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
ultrasound shows a large
heterogeneous placental
mass with vascular flow.
Large chor;oangiomas III are
uncommon and associated
with fetal cardiac failure.
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
-
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
(Leh) Axial ultrasound shows
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.
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,
Triploidy
(Left) Sagittal ultrasound
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
Key Differential Diagnosis Issues
• 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
Helpful Clues for Common Diagnoses
• 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
the cyst =
umbilical cord drapes over
which is located
near the insertion site •.
9
24
ABNORMAL PLACENTAL CORD INSERTION
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
Other Essential Information
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
-
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.
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 loops =
shows several inseparable
between
monoamniotic twins. The
orientation of the loops did
not change during the scan
concerning for
entanglement. (Right) Color
Doppler ultrasound in the
fetuses.
=
same case shows flow in all
cord loops and both
indicating no
evidence of compromise
secondary to cord
entanglement allhis lime.
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
(Right) Color Doppler
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
"pike" position =
that the fetus is in a fixed
9
30
ABNORMAL UMBILICAL CORD 'tI
iii
n
..
CD
:l
III
Qo
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
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
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
=-
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.
(Right) Axial ultrasound
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
veins =
single 6-vessel cord with 2
and 4 arteries HI.
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
Doppler ultrasound shows
the abnormal fetus with few
recognizable structures,
although there were 2
flipper-like lower extremities
Ill. Umbilical cord III flow
is present.
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.
(Right) Cross pathology
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.
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
10
4
OLIGOHYDRAMNIOS "Tl
c:
Q.
10
5
POLYHYDRAMNIOS
Macrosomia Diabetes
Hydrops Hydrops
(Left) Sagittal ultrasound of a
pregnancy complicated by
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.
(Right) Axial ultrasound
through the fetal abdomen
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.
10
8
POLYHYDRAMNIOS
extremities =-
short "flipper-like" upper
All the long
bones were severely
shortened and the skull had
a "clover-leaf" morphology.
Chorioangioma
(Left) Axial ultrasound shows
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.
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
• 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
Gastroschisis Gastroschisis
(Left) Ultrasound shows
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.
10
11
LINEAR ECHOES IN AMNIOTIC FLUID
Synechiae Synechiae
10
14
LINEAR ECHOES IN AMNIOTIC flUID ."
C
c:
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
2
INTRAUTERINE GROWTH RESTRICTION
Placental Insufficiency
(Left) Pulsed Doppler
ultrasound of the ductus
venosus, in the same case,
shows that normal flow is
=. D
and A E!llI waves refleel
systole, diastole, and atrial
contraction, respectively.
Flow should be continuously
towards the hear/. (Right)
Pulsed Doppler ultrasound in
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
INTRAUTERINE GROWTH RESTRICTION
11
5
Cl INTRAUTERINE GROWTH RESTRICTION
l:
"Qj
al
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.
body =-
head EillI/arger than the
Amniocentesis
results revealed triploidy.
(Right) Clinical photograph
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
INTRAUTERINE GROWTH RESTRICTION
Gastroschisis Gastroschisis
(Left) Axial ultrasound of a
third trimester pregnancy
extracorporeal =
with gastroschisis shows
and
intra corporeal BI bowel
distention. (Right) Color
Doppler ultrasound of the
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
(Left) Axial ultrasound of the
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
Diabetes
(Left) Axial ultrasound shows
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.
(Right) Clinical photograph
Beckwith-Wiedemann Syndrome
(Left) Axial ultrasound
through the fetal abdomen
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
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).
(Right) Four chamber view
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
(Left) Coronal ultrasound of
...• 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.
11
13
HYDROPS
==
in the same case shows
cardiomegaly skin
edema and a small
pericardial effusion
(calipers). The large volume
of vascular shunting caused
hydrops in the fetus.
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 ~
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
Helpful Clues for Common Diagnoses
• 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
=
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.
=.
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
ultrasound of the same fetus
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
Hemangioendothelioma Hemangioendothelioma
(Left) Axial color Doppler
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.
Hemangioendothelioma Hemangioendothelioma
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.
(Right) Color Doppler
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
(Left) Sagittal ultrasound
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
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
..
III DIFFERENTIAL DIAGNOSIS o
-
: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)
=-
12
4
SHORT CERVIX
..-
c
lD
c::
VI
(,
lD
Uterine Duplication
<>C.
Failed Cerclage
(Leh) Sagittal ultrasound
shows a different patient
with a failed cerclage. The
membranes. have
cerclage =
prolapsed through the
This patient had
a live delivery at 32 weeks.
(Right) Axial T2WI MR
=-
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.
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
Key Differential Diagnosis Issues
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
Helpful Clues for Less Common Diagnoses
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
o .
Gl
11)
•..Gl
-
:l
leiomyoma leiomyoma
(Left) Sagittal ultrasound
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
Doppler ultrasound shows a
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.
12
8
,..
c
UTERINE/CERVICAL MASS
..
CD
C
UJ
o
CD
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.
mass =
ultrasound shows a vascular
that is juxtaposed to
the uterine wall BI. The
mass is actually emanating
from the placenta" which
is posterior.
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
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
Doppler ultrasound of the
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.
=
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
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.
=
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
• 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
ANTEPARTUM HEMORRHAGE
..'.."
~
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
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.
13
8
ANTEPARTUM HEMORRHAGE
-
~
Ql
...~
(!)
Ql
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.
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 ~
• 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
Torsion
(Left) Ultrasound shows
gallstones" gallbladder
wall thickening HI. and
pericholecystic fluid. in a
patient with a positive
sonographic Murphy sign,
indicating acute cholecystitis.
(Right) Transvaginal
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.
13
13
ElEVATED MSAFP
• 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
Spina Bifida
Gastroschisis Omphalocele
(Left) Coronal T2WI MR
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
color Doppler ultrasound in
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.
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
ultrasound of the same case
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.
=
large perigestational bleed
Subchorionic blood can
mix with maternal blood and
lead to t MSAFP levels.
(Right) Sagittal ultrasound
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.
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)
Helpful Clues for Common Diagnoses
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
-"'
~
CII shows an amorphous
adnexal mass 11:I adjacent
the uterus (UT) and ovary
(OV). The ovary contains a
10
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.
13
21
~ CESAREAN SECTION COMPLICATIONS
C
l'lI
C
Cl • Percreta: Penetration of chorionic villi
CD
"-
DIFFERENTIAL DIAGNOSIS
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
• 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
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
transabdominal ultrasound
shows thin or absent anterior
myometrium in the lower
uterine segment 111. The
cervix is marked by calipers.
(Right) Sagittal transvaginal
ultrasound of the same
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.
13
25
ADNEXAL MASS IN 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
=
'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.
13
28
ADNEXAL MASS IN PREGNANCY
Endometrioma Cystadenoma
(Left) Sagittal US shows a
low-level echoes =
cystic mass with diffuse
of an endometrioma. The
typical
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
Helpful Clues for Common Diagnoses
• 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
Complicated Cyst
(Left) Ultrasound shows a
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.
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.
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
(,)
-
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.
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.
=
~ 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
cavity surgery
o Punctate bright echoes with distal o Anterior uterine segment hematoma at site
Endometritis Endometritis
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.
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
associated with, 6:43, 45
Volvulus
dilated bowel vs., 6:13, 15
large abdominal circumference vs., 6:22, 24
W
Warfarin (coumadin) exposure, abnormal midface
associated with, 3:13, 15
Wharton jelly, cystic, abnormal umbilical cord vs.,
9:26,28
y
Yolk sac, abnormal, abnormal sac contents vs.,
1:12, 13-14
XIX