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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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