A 20-week ultrasound shows an anterior abdominal wall defect lateral to the umbilical cord insertion, through which free-floating loops of bowel herniate into the amniotic cavity. No covering membrane is seen. The liver remains intra-abdominal. What is the diagnosis and its typical karyotype risk?

• A Gastroschisis, low aneuploidy risk ✓
• B Omphalocele, high aneuploidy risk
• C Omphalocele, low aneuploidy risk
• D Limb-body wall complex, low aneuploidy risk

Explanation

Gastroschisis is a full-thickness paraumbilical defect, usually right-sided, with eviscerated bowel lacking any covering membrane and a normal cord insertion site. It carries only a low chromosomal abnormality rate, though bowel complications such as atresia may occur. Omphalocele herniates through the cord insertion into a sac and carries a much higher aneuploidy risk, which is the key discriminating fact here.

Reference: Williams Obstetrics, 26th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.