A neonate born at 35 weeks is found to have a large abdominal wall defect at the umbilicus with intact peritoneal sac covering the herniated intestines and liver. The umbilical cord inserts at the apex of the sac. What is the diagnosis, and what differentiates it from gastroschisis?

• A Gastroschisis; defect is to the right of umbilicus without peritoneal covering
• B Exomphalos; associated with isolated bowel atresia
• C Exomphalos (omphalocele); defect at umbilicus with intact peritoneal sac — gastroschisis has no sac and is to the right of umbilicus ✓
• D Gastroschisis; sac is intact and contains both bowel and liver

Explanation

Exomphalos (omphalocele) is characterized by herniation of abdominal contents through the umbilicus with a peritoneal/amniotic sac covering; the umbilical cord inserts at the apex of the sac. It is associated with chromosomal anomalies (Trisomy 18, 13) and Beckwith-Wiedemann syndrome. Gastroschisis is a defect to the right of the umbilicus (rarely left), with no peritoneal covering and exposed intestines that are thickened and matted from amniotic fluid exposure. Gastroschisis is typically isolated without chromosomal anomalies. Both require surgical repair but management strategies differ.

Reference: Bailey & Love's Short Practice of Surgery, 27th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.