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Colorado Fetal Care Center


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Colorado Fetal Care Center
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What is an omphalocele?

An omphalocele is a rare abdominal wall defect in which a baby's intestines, and sometimes other  organs like the liver, stick outside of the abdomen. There are different sizes and severities of this condition. A small omphalocele is usually when only part of the intestines stick out. A large omphalocele, sometimes called a giant omphalocele, means the hole in the abdomen is large or a sizable portion of the liver sticks out through the abdomen.

With an omphalocele, the organs, usually the intestines and liver, are covered in a thin sac. An omphalocele can cause the abdominal cavity and lungs to be smaller and can also result in organ damage or infection, especially if the sac holding the intestines breaks. An omphalocele increases the risk of death before or during delivery, which is why we strive for early diagnosis and observation.

Hearing that your baby has an omphalocele can feel scary and overwhelming. But the Colorado Fetal Care Center is at the forefront of diagnosing and treating this condition. We perform state-of-the-art omphalocele treatments that help babies live healthy, full lives.

What causes an omphalocele?

A defect in the abdominal wall allows the omphalocele to occur. The cause of this abnormal development is not completely understood but researchers believe it happens during development early in pregnancy. Some genetic conditions can increase the chance of omphalocele. While the cause is unknown, our continued research has helped us to expertly diagnose and treat the condition.'

How common is an omphalocele?

An omphalocele occurs in approximately 1 in every 5,500 live births.

Differences between an omphalocele and gastroschisis

Gastroschisis is another abdominal wall defect. In an omphalocele, the opening that allows intestines to poke through the abdominal wall is at the belly button. In gastroschisis, it is typically to the right of the belly button. Another main difference is that with an omphalocele, the intestines that stick out are covered by a thin sac, whereas with gastroschisis, they are not. This can cause changes in bowel function for babies with gastroschisis.

Babies with an omphaloceles can have other conditions at birth, such as heart or kidney issues or genetic syndromes such as Beckwith-Wiedemann syndrome. Gastroschisis usually occurs by itself without other associated conditions.

Complications of omphalocele

An omphalocele can occur as part of a syndrome (meaning multiple organs are involved) or as an isolated disease (meaning without other abnormalities). Small abdominal wall defects that contain only bowel are associated with an increased risk of genetic abnormalities (changes in the baby's "blueprint").

Other organ complications vary, ranging from single minor abnormalities that are not life-threatening for the baby to multiple complex life-threatening problems that can cause long-term issues other than the omphalocele itself. We strongly recommend genetic testing because multiple studies have shown a high rate of genetic abnormalities with an omphalocele.

What is the impact of an omphalocele on my pregnancy?

During pregnancy, our team focuses on detecting preterm labor and fetal growth restriction (a condition where the baby is not growing enough while in the uterus). Both complications can happen with an omphalocele.

We perform ultrasounds more often in a pregnancy with an omphalocele to assess the baby's growth and the amount of amniotic fluid. In addition, during ultrasounds, we check for any rupture of the omphalocele membrane, which can expose the intestines to amniotic fluid and cause inflammation. We try to deliver the baby as close to full-term as possible.

We only recommend cesarean sections (c-sections) for specific cases, usually when the fetal omphalocele measures 5 cm or larger or if the majority of the liver is outside the baby’s body. Otherwise, we’ll recommend vaginal delivery.

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Get to know our pediatric experts.

Camila Londono-Obregon, MD

Camila Londono-Obregon, MD

Cardiology, Cardiology - Pediatric, Pediatrics

Michelle Grenier, MD

Michelle Grenier, MD

Cardiology - Pediatric, Pediatrics

Michael Zaretsky, MD

Michael Zaretsky, MD

Maternal-Fetal Medicine, Ob/Gyn Obstetrics & Gynecology

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Henry Galan, MD

Henry Galan, MD

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