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Omphalocele — RACP Paediatrics MCQ

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EasyNeonatalOmphaloceleRACP Paediatrics

A newborn has a midline abdominal wall defect at the umbilicus with protruding abdominal contents covered by a translucent membrane (peritoneum and amnion). The liver is contained within the sac. What is the most likely diagnosis?

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Correct answer: EOmphalocele

A midline abdominal wall defect at the umbilicus with herniated viscera covered by a membrane (peritoneal sac) is an omphalocele. Unlike gastroschisis, the contents are covered. Omphalocele is associated with chromosomal abnormalities (trisomy 13, 18, 21) and Beckwith-Wiedemann syndrome. The membrane should be kept moist and intact. Large omphaloceles may require staged closure.

Reference: RCH Melbourne – 2023 – Abdominal Wall Defects CPG; RACP Paediatric Curriculum – Neonatology