Leeds Fetal Medicine Unit Website

Exomphalos (Omphalocele)

Definition	Midline abdominal wall defect with herniation of abdominal contents into the base of the umbilical cord
Incidence	1:4000
Diagnosis	Ultrasound
Gestation at diagnosis	12 weeks onwards
Known chromosomal or genetic association	Yes, 30% chromosomal (commonest Trisomy 18)
Further investigations	Karyotype
Differential Diaganosis	Physiological herniation (should not occur before 12 weeks) Gastroschisis (cord inserts para-umbilically) Cloacal/ Bladder Extrophy Pentalogy of Cantrel Amniotic Bandsl
Prognosis	Good (~80%) if normal chromosomes
Recurrance risk	Low
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