ultrasound diagnosis of fatal anomalies

DRUGS
References
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Fetal Alcohol Syndrome
Definition: A complex syndrome developing in
the fetus due to chronic maternal alcohol abuse.
Incidence: Estimated at one in 1000 births. The
risk of fetal alcohol syndrome in mothers with
chronic alcohol abuse is 20–40% .
Embryology: Alcohol and its metabolites cross
the placenta and disturb or destroy fetal cell
growth.
Clinical features: Facial dysmorphism (hypoplasia
of mid-facial region, epicanthus, smooth
philtrum with short upper lip, ear anomalies);
cardiac anomalies (70%), CNS anomalies, microcephaly
(80%), neural tube defects, cleft lip and
palate; skeletal anomalies, urogenital anomalies
(10%).
Ultrasound findings: Growth restriction. Associated
anomalies are: cardiac anomalies: VSD,
ASD, double-outlet right ventricle (DORV), pulmonary
atresia, dextrocardia, tetralogy of Fallot.
CNS anomalies: Microcephaly, neural tube defects.
Facial anomalies: micrognathia, cleft lip
and palate, underdevelopment of upper jaw.
Urogenital anomalies: hypoplasia of external
genitalia, oligohydramnios. Others: pectus excavatum,
vertebral anomalies in the neck region,
diaphragmatic hernia. These anomalies are
mostly diagnosed in the third trimester.
Clinical management: Karyotyping; TORCH
serology; maternal metabolic disorders should
be excluded (phenylketonuria). Taking a detailed
clinical history is important. Additional screening
of fetal organs, including fetal echocardiography.
Serial ultrasounds (growth restriction).
Procedure after birth: The pediatrician should
be present at the time of birth, as fetal distress is
frequently seen. Alcohol withdrawal syndrome
may develop in infancy.
Prognosis: This depends on howmuch and over
what period of time the mother has been consuming
alcohol. The average intelligence
quotient of affected children is 65. Neurodevelopmental
disorders may frequently
develop.
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