Exomphalos / Omphalocele

Exomphalos is a rare congenital abnormality affecting approximately 1 out of every 5,000 live births. The word 'exomphalos' literally means 'outside the navel'. It is a birth disorder in which the abdominal contents herniate into the umbilical cord through the umbilical ring. It is also called as an omphalocele.

During fetal development, the intestines are located outside the abdomen. They return to the abdomen around the 10th week of pregnancy, which is followed by closure of the abdominal wall. In babies with exomphalos, the abdominal wall does not develop properly and the bowels and sometimes the liver remain outside the abdominal cavity, where they are contained in a loose sac around the umbilical cord. The abdominal cavity often does not develop properly and remains small in size, as most of its contents are lying outside in the sac.

Almost half the babies with exomphalos have problems affecting other body systems. Exomphalos has been linked to abnormalities of the heart, lungs and kidneys, as well as genetic abnormalities like trisomy 18.

Prenatal diagnosis of exomphalos is possible through an ultrasound examination. However, not all cases are confirmed before birth. If a confirmation was made during the prenatal period, a cesarean section is recommended for a safe delivery.

Treatment options include surgery to remove the sac and replace the herniated organs within the abdominal cavity where they belong. Regular follow-ups are required to monitor the baby’s progress.