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    Congenital Anomalies: Dr. Bertha Soegiarto, Sp.A

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    Christine Verina
    This document discusses congenital anomalies, including their causes, classifications, and approaches to evaluation and prenatal diagnosis. It covers single primary defects, multiple malformation syndromes, specific conditions like Down syndrome, structural defects of prenatal onset, and the goals of evaluating children with congenital defects such as determining recurrence risk and prognosis. Prenatal screening and diagnostic methods like amniocentesis and maternal serum screening are also outlined.

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    Congenital Anomalies: Dr. Bertha Soegiarto, Sp.A

    Uploaded by

    Christine Verina
    218 views26 pages
    This document discusses congenital anomalies, including their causes, classifications, and approaches to evaluation and prenatal diagnosis. It covers single primary defects, multiple malformation syndromes, specific conditions like Down syndrome, structural defects of prenatal onset, and the goals of evaluating children with congenital defects such as determining recurrence risk and prognosis. Prenatal screening and diagnostic methods like amniocentesis and maternal serum screening are also outlined.

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    Congenital Anomalies

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    This document discusses congenital anomalies, including their causes, classifications, and approaches to evaluation and prenatal diagnosis. It covers single primary defects, multiple malformation syndromes, specific conditions like Down syndrome, structural defects of prenatal onset, and the goals of evaluating children with congenital defects such as determining recurrence risk and prognosis. Prenatal screening and diagnostic methods like amniocentesis and maternal serum screening are also outlined.

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    Attribution Non-Commercial (BY-NC)
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    Download as pptx, pdf, or txt
    218 views26 pages

    Congenital Anomalies: Dr. Bertha Soegiarto, Sp.A

    Uploaded by

    Christine Verina
    This document discusses congenital anomalies, including their causes, classifications, and approaches to evaluation and prenatal diagnosis. It covers single primary defects, multiple malformation syndromes, specific conditions like Down syndrome, structural defects of prenatal onset, and the goals of evaluating children with congenital defects such as determining recurrence risk and prognosis. Prenatal screening and diagnostic methods like amniocentesis and maternal serum screening are also outlined.

    Copyright:

    Attribution Non-Commercial (BY-NC)
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    of 26

    Congenital Anomalies

    dr. Bertha Soegiarto, Sp.A

    Introduction
    The number of recognizable patterns of malformation has tripled during the last 25 years Drugs, chemicals, environment agents, genetic & non-genetic defects is better appreciated Recognition of prenatal onset of structural defects, mechanism of injury, and possible etiology determine the necessary evaluation The ultimate goal in evaluating a child with congenital defects is making a spesific diagnosis:
    Recurrence risk counseling for parents Prognostication Appropriate plan for achievement of the childs potential

    Structural Defects of Prenatal Onset

    Single Primary Defect

    Multiple Malformation Syndrome

    Malformation (Poor tissue formation)

    Deformation (unusual forces on normal tissue)

    Disruption (breakdown of normal tissue)

    Dysplasia (abnormal organization of cells)

    Chromosomal and genetics abnormalities

    Teratogen

    Single Primary Defects


    Most etiology is unknown Some can be explained by the basis of multifactorial inheritance recurrence risk of 3-5% for the next child of unaffected parents with affected child Subcategorized according to the nature of the error in morphogenesis:
    Malformation: primary structural defect arising from a localized error in morphogenesis (cleft lip, VSD, omphalocele, anencephaly, meningomyelocele)

    Deformation: an alteration in shape or structural of a part that has differentiated normally (oligohydramnion caused club foot) Disruption: structural defect resulting from destruction of a previously normally formed part (porencephalic cyst due to vascular obstruction caused by TORCH infection) Dysplasia: abnormal organization of cells and the structural consequences (hemangioma, melanoma) Sequence: pattern of multiple anomalies that occurs when a single primary defect in early morphogenesis produces multiple anomalies (amniotic band disruption sequence)

    Multiple Malformation Syndrome


    Patients with > 1 developmental anomaly of > 2 systems, all of which are thought to be due common etiology Other than down syndrome (incidence of 1/660) and XXY syndrome (incidence of 1/500 males), none occures more frequently than 1/3000 live births

    Caused by chromosomal and genetic abnormal & teratogen (includes infections, pharmacological, and chemical agents) Isotretinoin embryopathy
    Craniofacial abnormal, microtia&/anotia, cardiovascular defects, CNS anomalies, subnormal IQ Child of women who take isotretinoin between 15 days after conception and the end of the 1st trimester have 35% risk

    Fetal alcohol syndrome Thalidomide Intrauterine infection (TORCH)

    Down Syndrome
    First reported by Down in 1886 Incidence of 1 in 660 newborns most common malformation in male Trisomy chromosome 21 :
    Full 21 trisomy (94%) 21 trisomy / normal mosaicism (2,4%) Translocation (3,3%)

    More likely to occur at older maternal :


    15-29 yo = 1:1500 30-34 yo = 1:800 35-39 yo = 1:270 40-44 yo = 1:100 >45 yo = 1:50

    Down Syndrome Abnormalities


    Hypotonia with tendency to keep mouth open, protrude tongue, small stature Mental deficiency Mild microcephaly, slanting palpebral fissure, late closure fontanels, small nose, flat nasal bridge Brushfield spots of iris, myopia, strabismus Hypoplasia & irregular dentition Short neck Hypoplasia of microphalanx of 5th finger, clinodactily, simian crease Cardiac anomaly (40%) endocardial cushion defect, ASD, VSD, PDA

    Down Syndrome Natural History


    Muscle tone improve with age Slower rate of developmental progress IQ range is said to be 25-50 Generally good babies and happy children, friendly, have good sense of rhythm and enjoy music Growth is relatively slow during the first 8 years, final height is usually attained at 15 yo Major cause of mortality is congenital heart defects Leukemia is more often than other neoplasms

    Edward Syndrome
    First recognized in 1960 Trisomy chromosom 18 Second common multiple malformation syndrome Incidence 0,3/100 Female : Male = 3:1

    Edward Syndrome Abnormalities


    Premature (1/3) or post mature (1/3) Weak cry Prominent occiput, low set, malformed ear, micrognathia Clenched hand, nail hypoplasia, short hallux Short sternum, small nipple Small pelvis, limited hip abduction Cryptorchidism VSD, ASD, PDA Limited capacity : for survival

    Edward Syndrome Natural History


    50% die within 1st week Only 5-10% survive with mental defect

    XXY Syndrome (Klinefelter Syndrome)


    Initially described by Klinefelter in 1942 Most common single caused of hypogonadism and infertility Affecting 1 in 500 males

    Pierre-Robin Syndrome (Robin Sequence)


    Single defect of hypoplasia of the mandibular area before 9 weeks in utero micrognathia tongue located posteriorly Impairing closure of pallatum Airway obstruction Hypoxia, cor pulmonale, failure to thrive, cerebral impairment

    Sturge Weber Syndrome


    Flat facial hemangioma Meningeal hemangioma Seizures
    Seizures most commonly begin between 2-7 months

    Crouzon Syndrome
    Occular proptosis Frontal bossing Hypoplasia maxilla Craniosynostosis complete structural closure by 11 months of age

    Fetal Alcohol Syndrome


    Alcohol is the most common major teratogen
    2 drinks per day smaller birth size 4-6 drinks per day subtle clinical features 8-10 drinks per day fetal alcohol syndrome

    Prevalence in U.S. 1-2/1000 lives IQ deficit, poor school performance Mild-moderate microcephaly, short palpebral fissure, maxillary hypoplasia, short nose, smooth phitrum within and smooth upper lip Altered palmar crease, small distal phalanges, small 5th finger nails VSD, ASD

    Thalidomide Baby

    Congenital Rubella (Blueberry Muffin Baby)

    Congenital Toxoplasmosis

    Dysmorphogy Approach
    Approach toward the evaluation with individual with congenital defects :
    Gather information
    Family history Prenatal history
    Onset of fetal activity Gestational timing Indication for uterine constraint Drugs intake

    Birth history
    Mode of delivery Size at birth Neonatal adaptation

    Problems in postnatal growth & development Complete physical examination

    Interpret the patient anomalies from the view point of developmental anatomy :
    Which anomaly of the patients represents the earliest defect of the morphogenesis to determine the time of insult Can all anomalies be explained on the basis of a single problem in morphogenesis? Does the patient have multiple structural defects that appear to be the consequence of multiple defects in 1 or more tissues multiple malformation syndrome

    Attempt to arrive at specific diagnosis, confirm when possible and counsel accordingly

    Prenatal Diagnosis
    Amniocentesis
    Risk of many chromosomal abnormal increases with advancing maternal age fetal karyotyping is adviced chorionic villous sampling Done at 15-18 weeks of pregnancy Risk of miscarriage 1:200 Indication :
    previous child with trisomy 21 Parental balanced translocation Affected parents with microdeletion syndrome Parental request this is the only way to exclude recurrence from gonadal mosaicism

    Maternal serum AFP on 15-18 weeks pregnancy


    High serum : used to screen for open neural tube defect, gastroschisis, omphalocele, twins, etc also be identified Low serum : incorrect gestational age, trisomy 18, 21, IFGR

    Triple screening (AFP, unconjugated estriol, HCG) + UTZ trisomy 21 :


    Low AFP Low conjugated estriol High HCG UTZ : thickened nuchal fold, absent nasal bond, shortened femur, and cardiac anomalies

    Nuchal Scan

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