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OBG · Complications of pregnancy: omphalocele
Sample itemA fetus at 18 weeks has a midline anterior abdominal wall defect with liver and bowel herniating into a membrane-covered sac to which the umbilical cord is attached. What is the most appropriate next step in evaluation?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Fetal karyotyping and echocardiography
Omphalocele is frequently associated with aneuploidy (notably trisomy 18 and 13), other structural anomalies including cardiac defects, and syndromes such as Beckwith-Wiedemann. Karyotyping and fetal echocardiography are therefore indicated, in contrast with gastroschisis.
Option by option
A. Reassurance, as this is isolated and benign
Isolated benign behaviour is typical of gastroschisis, not omphalocele.
B. Immediate delivery at 20 weeks of gestation
Delivery at 20 weeks is not viable.
C. Fetal karyotyping and echocardiography (correct)
Correct. Associated anomalies and aneuploidy are common, so karyotype and cardiac evaluation are required.
D. A repeat scan after 6 months, and nothing else
Waiting without karyotyping misses a high-risk association.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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