What is Omphalocele?

Omphalocele is a congenital (present at birth) defect of the abdominal wall at the base of the umbilical cord. A sac containing abdominal organs protrudes through the defect to the outside of the body. The sac may be small and contain only portions of the bowel, or be large and contain most of the abdominal organs including the stomach, liver, and all of the intestines. Omphalocele is frequently associated with other defects such as imperforate (having no opening) anus, urinary problems, heart problems, and genetic defects. Omphalocele is a life-threatening problem requiring immediate treatment.

What causes Omphalocele?

The cause of omphalocele is unknown; abnormal abdominal wall development occurs around the third week of fetal growth. Some reports suggest inherited cases, so genetic counseling is recommended. There is no known prevention, and associated abnormalities are present in 60-70% of cases.

Because omphalocele often appears alongside other congenital anomalies, identifying related conditions is an important part of diagnosis and care planning. Early detection through prenatal imaging can help families prepare for medical treatment and support after birth.

How many children have Omphalocele?

Omphalocele occurs in one out of 4,000-6,000 births with an equal occurrence rate for boys and girls.

How do you know if your child has Omphalocele?

Omphalocele can be detected prenatally by ultrasound. Otherwise, it is physically observable at birth and testing is not required. When discovered prenatally, amniocentesis is often performed because 30% of the fetuses also suffer chromosome abnormalities. Other abnormalities are present in approximately 60-70% of the cases.

How can you help a child with Omphalocele?

At birth the exposed organs are covered to prevent them from drying out or becoming infected while the newborn baby is stabilized. The bowel is examined for damage or additional birth defects and surgically repaired as necessary. Surgery under general anesthesia is performed to place the organs in their proper position within the abdominal cavity. In cases of large Omphaloceles, the abdominal cavity may be too small to accommodate the organs. Surgery may then be delayed 6-12 months to allow the abdominal cavity to enlarge as the baby grows. A special pouch is placed over the abdominal contents to protect them until surgery is complete. After surgery the baby is usually placed in an incubator to keep him warm, given oxygen, and treated to alleviate pain and prevent infection. A team of specialists is helpful for children with Omphalocele and should include neonatal and surgical experts.

What’s in the future for a child with Omphalocele?

With early treatment and successful repair, the survival rate for a child with Omphalocele is quite high. The prognosis, however, depends on whether other abnormalities are present and their severity. Most deaths are due to associated abnormalities.

Fact Sheet by:

Birth Defect Research Children, Inc.
www.birthdefects.org