Omphalocele

Case contributed by Mostafa Elfeky
Diagnosis almost certain

Presentation

Routine second trimester scan.

Patient Data

Age: 24 weeks-gestation
Gender: Female
ultrasound

Focal rounded midline abdominal protrusion containing some of abdominal contents with echogenic texture, mostly bowel loops, seen at the base of the umbilical cord measuring 3.2 x 3.3 cm. It is well-defined and completely covered. The umbilical cord is attached to the apex of herniated mass. Umbilical vessels are seen running at its wall. No signs of rupture.

Case Discussion

The fetus is in the second trimester with a mean gestational age of 24 weeks. It shows a midline protrusion of some abdominal contents through a covered hernia sac at the base of the umbilical cord, in keeping with omphalocele. It is reported to be highly associated with chromosomal and congenital anomalies.

Differential diagnosis includes:

  • physiological gut herniation: diagnosed before 12 weeks gestational age, with CRL less than 55 mm and size less than 7 mm in diameter
  • gastroschisis: herniation of bowel loops through a small paramidline defect and not covered with a membrane

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