Omphalocele

An omphalocele (en-GB: omphalocoele) is a type of abdominal wall defect in which the intestines, liver, and occasionally other organs remain outside of the abdomen in a sac because of a defect in the development of the muscles of the abdominal wall.

Presentation

The sac, which is formed from an outpouching of peritoneum, protrudes in the midline, through the umbilicus (navel).

It is normal for the intestines to protrude from the abdomen, into the umbilical cord, until about the tenth week of pregnancy, after which they return to inside the fetal abdomen.

The omphalocele can be mild, with only a small loop of intestines present outside the abdomen, or severe, containing most of the abdominal organs. In severe cases surgical treatment is made more difficult because the infant's abdomen is abnormally small because it had no need to expand to accommodate the developing organs.

The presence of an omphalocele is often associated with cardiac defects.

Screening

An omphalocele is often detected through AFP screening or a detailed fetal ultrasound. Genetic counseling and genetic testing such as amniocentesis is usually offered during the pregnancy.

Causes

Some cases of omphalocele are believed to be due to an underlying genetic disorder, such as Edward's syndrome.

Related conditions

Gastroschisis is a similar birth defect, but the umbilical cord is not involved, the lesion is not usually midline, parts of organs may be in the amniotic fluid, and not enclosed in a membranous (peritoneal) sac.

Translation of "Omphalocele"

German: Omphalozele, Spanish: Onfalocele, French: Omphalocèle, Italian: Onfalocele, Polish: Przepuklina pępowinowa, Turkish: Omfalosel.