Omphalocele

 

Condition Description

Omphalocele is congenital defect that occurs early in fetal life with no known cause. An opening in the abdominal wall allows the abdominal contents to herniate through the umbilical cord. The abdominal contents are covered with a membraneous sac. In 50% of the children, the liver, spleen, and bladder are also herniated into the sac.

Omphaloceles may be diagnosed before birth because of polyhydramnios (excess amniotic fluid) since the babies will not be swallowing the fluid properly. Ultrasound might also detect this problem and there will be an elevated maternal serum alpha fetal protein level.

Prevalence

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

Common Associated Conditions

While large omphaloceles typically occur as a single condition in a baby, paradoxically, small omphaloceles often are associated with other birth defects as well as chromosomal anomalies such trisomy 21 or 18. The bowel contents may be rotated (malrotation) and there may also be bladder defects. Lungs can be under-developed in some children with omphaloceles

Short-term Treatment and Outcomes

Surgery will be necessary very quickly in order to be sure that blood supply is maintained to the bowel before that delicate tissue dies. The abdomen is typically small and has to 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.

Long-term Treatment and Outcomes

With improved surgical techniques, the survival rate of omphalocele has greatly improved to about 90% currently. Long-term, the child's treatment depends on what other congenital problems the child has. Chromosomal problems entail developmental delays and other significant complications. An omphalocele that occurs as a single condition is generally treated successfully, even if multiple surgeries are required before final closure of the abdomen is achieved.

Common Complications

Respiratory distress is a concern in that the baby's lungs may not have expanded well after birth because of the lack of abdominal pressure. A second grave concern is bowel necrosis due to lack of blood supply or infection (peritonitis). If bowel tissue is not healthy, multiple surgeries may be required in order to establish a functional bowel and prevent infection. Lack of bowel activity (paralytic ileus) post-operatively is another complication. If a large amount of small bowel is damaged and has to be removed the result can be a condition called “short bowel syndrome” which is difficult to treat because the bowel is necessary to absorb nutrients. Bowel transplantation is one of the treatments for severe short bowel syndrome.

Implications for Children's Development

Omphalocele is often part of a syndrome or group of problems so the outcome for each baby depends on the extent of the problems overall. The abdominal defect is usually successfully repaired in infancy. By itself, omphalocele should not have a great effect on a child's development if the child is otherwise normal.

The immediate post-surgical period causes the baby to have prolonged hospitalizations involving pain, discomfort and separation from normal experiences of home and family. The parents need support to stay with the child and do the care of the child as much as possible. Multistage repairs of large defects may affect a child's development if many hospitalizations and surgeries are required. Development of the large muscles might be delayed but once the child is healthy, catch-up in development should occur. Growth must be monitored and nutrition maximized for catch-up in growth and weight gain once full feedings can be given. Some children may have altered bowel motility, and bowel training might be needed to establish a normal stooling pattern.

Children who have other chromosomal defects will have varied outcomes and typically are considerably delayed in their development. Reliable resources for information and support for parents can be found online: