Birth Defects: Learning about Omphalocele

By Darlene Oakley HERWriter

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information on the birth defect omphalocele

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Definition of Omphalocele

According to the Centers for Disease Control and Prevention (CDC) one out of every 5,386 babies (about 775) are born with omphalocele (om-fa-lo-seal) in the United States annually.

Omphalocele is a congenital birth defect, which means that it is present at birth.

In this case, the abdominal wall has failed to close and the abdominal organs remain outside the body in a sac at the base of the umbilical cord.

Since the organs have not developed inside the body, the baby’s lungs and abdominal cavity may be smaller than normal and underdeveloped.

"A giant omphalocele occurs in 1 in every 10,000 live births and is when the majority of the liver herniates into the umbilical cord." (1)

A small omphalocele occurs in 1 in every 5,000 live births and is when only some of the intestines develop outside the abdomen.

More than 30 percent of babies born with omphalocele have other birth defects, as well, such as atrial septal defect, neural tube defects, and chromosomal defects ( eg: Trisomy 13, Trisomy 18, Trisomy 21, Turner syndrome or triploidy). (2).

Causes and Risk Factors of Omphalocele

In utero, the intestines actually do protrude into the umbilical cord when they are developing (6 to 10 weeks gestation). By the eleventh week, the intestines are supposed to return to the abdominal cavity.

When this doesn’t happen, omphalocele occurs.

Researchers and doctors still don’t know what causes omphalocele, but they do know that women who consume alcohol, smoke more than a pack a day, take certain selective serotonin reuptake inhibitors (SSRIs), or are obese during pregnancy, are at greater risk for having a baby with omphalocele.

How is Omphalocele Treated?

Once omphalocele is discovered on a routine ultrasound, an amniocentesis is scheduled to determine the presence of any chromosomal abnormalities.

With small omphalocele, a vaginal delivery may still be possible. Giant omphalocele, however, will most likely require a caesarean section delivery to prevent trauma to any of the organs.

Once the baby is born, the exposed organs in small omphalocele are returned to the abdomen and the defect is surgically closed.

Treatment for giant omphalocele can take from 6 to 12 months as the abdomen is allowed to stretch incrementally, with the aid of gravity. During this time, the exposed organs are covered with a protective wrap until the defect can be surgically closed. (1)

Babies with omphalocele and who are undergoing treatment are fed intravenously, and then once bowel movements occur, feeding via nasogastric tube is added. Expressed breast milk is ideal for this stage as long as the baby tolerates it.

Read about one family’s journey through their baby girl’s treatment and surgery.

Sources:

1) Omphalocele Surgery and Repair. Children’s Hospital of Philadelphia. Web. Mar 26, 2012.
http://www.chop.edu/service/fetal-diagnosis-and-treatment/fetal-diagnoses/omphalocele.html

2) Omphalocele. Children’s Hospital Boston. Web. Mar 26, 2012.
http://www.childrenshospital.org/az/Site1384/mainpageS1384P1.html

3) Birth Defects: Facts about Omphalocele. Centers for Disease Control and Prevention. Web. Mar 26, 2012.
http://www.cdc.gov/ncbddd/birthdefects/Omphalocele.html

Reviewed October 2, 2012
by Michele Blacksberg RN
Edited by Jody Smith

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We value and respect our HERWriters' experiences, but everyone is different. Many of our writers are speaking from personal experience, and what's worked for them may not work for you. Their articles are not a substitute for medical advice, although we hope you can gain knowledge from their insight.