Omphalocele (also called exomphalos) is an abdominal wall defect in which the intestines and potentially other organs depending on the degree of the defect, protrude outside the body at the base of the umbilical cord. [11] The herniated contents are covered by a thin membranous sac of peritoneum (lines the abdominal cavity) on the inner surface and amnion (surrounds the embryo during development) on the outer surface. [13] Diagram 1 illustrates the above features.
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The frequency of live births with omphalocele varies throughout literature, but is approximately 1 in every 4000 and slightly more boys are affected than girls. [3, 1] In about 50% of cases, omphalocele is present with other birth abnormalities most notably heart, spine, digestive and urinary defects. [13, 11] It is also associated with chromosomal anomalies such as trisomy 13 (Patau syndrome), 18 (Edward syndrome) and 21 (Down syndrome) and their resulting defects. [8] Trisomy is where instead of the normal two types of a specific chromosome, there are three. As well as this, respiratory problems are a concern especially after surgery due to the increased internal abdominal pressure, which limits lung expansion in breathing. [5]