Omphalocele (sometimes called "exomphalos") refers to a condition of the fetus whereby abdominal contents (small and/or large intestine, stomach and liver) protrude through a hole in the abdominal wall. This differs from gastroschisis, which involves the side of the umbilicus (umbilical cord); this hole is almost always to the left of the umbilical cord. In omphalocele the fetus has a hole covered by a membrane that somewhat protects the exteriorized organs. The umbilical cord of the fetus inserts at the top of this membrane, rather than on the abdomen itself.
Although both omphalocele and gastroschisis appear the same (intestines protruding outside the abdomen), each condition has its own features. Abdominal wall defects can be detected by ultrasound from the third month of pregnancy (14 to 15 weeks). As the pregnancy progresses, diagnosis becomes more accurate: loops of intestine can then be seen outside the abdomen, "floating" into the amniotic cavity.
Omphalocele occurs somewhat less often than gastroschisis, and is estimated to be present in 1 of every 5,000 births. It can be an isolated finding, but omphalocele is also seen in combonation with a number of chromosomal anomalies and other syndromes. Isolated omphaloceles have a prognosis similar to gastroschisis: once the extruded organs can be replaced in the abdomen and the defect closed, most babies will heal completeley and function normally.
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The Fetal Treatment Program is a partnership of Hasbro Children's Hospital, Women & Infants' Hospital and The Warren Alpert Medical School of Brown University.