An omphalocoele is a congenital midline abdominal wall defect at the base of the umbilical cord insertion. It is typically a large defect through which liver or bowel or both herniate. It is covered by a peritoneal membrane with the umbilical cord inserting at or near its apex. Associated anomalies are common, including chromosomal, CNS, cardiac, genitourinary and gastrointestinal anomalies, which confer a poor prognosis. Syndromes that include omphalocoeles are Beckwith-Wiedemann syndrome, bladder exstrophy and pentalogy of Cantrell. The differential diagnoses are gastroschisis (smaller para-umbilical defect usually to the right of midline, usually containing only bowel loops and not covered by a membrane) and limb-body wall complex (large defect usually to the left of midline).
1. Reuter KL, Babagbemi TK Obstetric and Gynaecological Ultrasound Case Review Series, 2nd edition. Mosby Elsevier 2007
2. Dahnert W. Radiology Review Manual, 5th edition. Lippincott, Williams and Wilkins 2003
Credit: Dr Donna D’Souza