Omphalocele

Condition Description

Omphalocele is congenital defect that occurs early in fetal life. It is also known as an exomphalos. This condition has an opening in the abdominal wall which allows the abdominal contents to herniate through the umbilical cord. The abdominal contents are covered with a membranous sac. In 50% of the children, the liver, spleen, and bladder are also herniated into the sac. The cause is unknown.

Omphaloceles may be diagnosed before birth because of polyhydramnios (excess amniotic fluid) because the babies do not swallow the fluid properly. Ultrasound can also detect this condition and blood work that shows an elevated maternal serum alpha fetal protein level may also help with the diagnosis prior to birth. Surgery will be necessary, very quickly to be sure that blood supply is maintained to the bowel before that delicate tissue dies. The abdomen is typically small and must be gradually stretched over a period of weeks so that the abdominal contents can settle into the cavity and healing can take place. Typically, a silastic mesh will be sutured over the mass and as healing takes place the intestines will gradually settle into the abdominal cavity until the skin can be closed in a second-stage operation. The baby will be fed intravenously, and antibiotics will be given to prevent infection. Putting the abdominal contents into the abdomen can sometimes make it difficult for the lungs to expand, and the baby might need to breathe with the help of a mechanical ventilator machine until lungs expand.

Omphalocele occurs in 1 of 4000 live births, and about 50% of babies will have other congenital defects.

Using data from Minnesota births between 2016-2020, we found 67 babies were born with an omphalocele, resulting in a rate of nearly 2 babies per 10,000 births. Annually, about 13 babies are born with an omphalocele.

Parental education and support are essential, and local, regional, and national organizations may be very helpful.

Condition specific organizations

• CDC: Facts about Omphalocele
• Medline
• GARD Rare Disease Information - Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex - National Organization for Rare Disorders