Omphalocele — also known as exomphalos — is an abdominal wall defect that occurs in about 1 in 4,200 live births in the United States, according to the Centers for Disease Control and Prevention. Omphalocele is a life-threatening condition, but with proper and timely treatment, babies with omphalocele often do well. In some cases, babies with omphalocele are born with other medical complexities, which can lower the survival rate.

As the leading pediatric academic health system on Florida’s west coast, Johns Hopkins All Children’s Hospital in St. Petersburg, Florida, has experience diagnosing and treating omphalocele. The intestinal rehabilitation program called CUIRE (Care Under Intestinal Rehabilitation Excellence) at Johns Hopkins All Children’s consists of a team of specialists, including a neonatologist, advanced nurse practitioner, gastroenterologist, pediatric surgeon, intestinal rehabilitation-trained dietitian, pharmacist and speech therapist, all focused on giving patients with omphalocele the best possible outcome. 

What is Omphalocele? 

Omphalocele (pronounced uhm-fa-lo-seal) is a birth defect where the infant’s intestines, liver or other organs stick out of the belly — the abdomen — through the belly button. The organs are covered by a thin, nearly transparent membrane, or sac, called the peritoneum. 

It is normal during the early part of pregnancy — weeks six through 10 — for the intestines or other organs to stick out through the belly button. Generally, as the fetus gets larger around week 11, the intestines pull back into the belly. When this does not happen, the baby has an omphalocele, which may be large or small. 

What is a Giant Omphalocele? 

A giant omphalocele is a larger omphalocele sticking out. There is no consensus on what size constitutes a giant omphalocele, but many consider it to be when the sac is more than 5 centimeters. Giant omphalocele occurs in about 1 in 5,000 live births, most often in mothers of advanced maternal age. 

How is an Omphalocele Diagnosed? 

Omphalocele is a birth defect that occurs early in pregnancy and may be diagnosed through prenatal testing. A blood test with high levels of a protein called alpha-fetoprotein may lead to further testing, such as an ultrasound. In cases with little prenatal testing, omphalocele may not be detected until after birth. 

When the diagnosis occurs during pregnancy, maternal-fetal medicine specialists will closely monitor your pregnancy. Frequently, babies with omphalocele have additional abnormalities of the spine, digestive system, heart, urinary system or limbs. 

Your medical team may order a fetal echocardiogram to check for heart problems in the baby, an amniocentesis to check for chromosomal issues or an MRI to check the baby’s organs.

When omphalocele is diagnosed during pregnancy, expectant mothers may be referred to the Fetal Care Program at Johns Hopkins All Children’s, which develops a comprehensive treatment plan by a team of specialists from pre-birth through delivery and follow-up. Our specialists will monitor your baby’s growth in the womb, the amount of amniotic fluid and assess the risks of preterm delivery. You will be able to ask questions about how your baby will be treated after birth. 

How is Omphalocele Treated? 

When your baby is diagnosed with omphalocele, we will encourage you to plan delivery at Orlando Health Bayfront Hospital Center for Women and Babies, which is on the third floor of Johns Hopkins All Children’s Hospital and has easy access to our neonatal intensive care unit (NICU). Our NICU carries the highest ranking from the Florida Agency for Health Care Administration (AHCA), Level IV.

After birth, treatment will depend on several factors, including how large the omphalocele is, the baby’s gestational age and whether other medical conditions or complexities exist.

In cases where the omphalocele is small and other factors allow, a pediatric surgeon may place the intestines back in the belly and close the opening shortly after birth. In cases of giant omphalocele with multiple organs outside the body, the surgeon may need multiple procedures to complete the repair. The exposed organs may be covered with a special protective material between repairs. 

Babies with omphalocele often need additional care after the repair because of damage to the intestines or other organs. These babies generally stay in the NICU for several weeks, and in some cases months. Babies with omphalocele may not have a fully-grown abdominal cavity or fully-grown lungs.

The intestinal rehabilitation team at Johns Hopkins All Children’s has experience helping babies with omphalocele deal with challenges related to nursing and feeding. Intestinal rehabilitation is the science that stimulates the ability of the intestine to adapt to different and unexpected medical and surgical conditions, including omphalocele, by a specialized team of providers including neonatologist, gastroenterologist, pediatric surgeon, intestinal rehab dietitian, pharmacist and speech therapist. It encompasses pharmacological, dietary, and surgical options that can maximize intestinal adaptation and function for best outcomes. 

Your baby may need a ventilator to help with breathing until the lungs develop. 

What Causes a Baby to Have Omphalocele? 

The causes of the omphalocele birth defect are unknown, though genetic, chromosomal or environmental factors may be involved. Some risk factors for omphalocele researchers at the Centers for Disease Control and Prevention have identified: 

• Obesity
• Alcohol and tobacco use 
• Certain medications that include serotonin-reuptake inhibitors (SSRIs)  

Can I Deliver Vaginally if the Baby Has Omphalocele? 

Vaginal delivery can damage the sac protecting your baby’s organs, so your provider will likely recommend a cesarean section if your baby has an omphalocele birth defect. But you should discuss your options with your health care team. 

What Are Long-term Effects of Omphalocele? 

Children with only omphalocele generally make a full recovery from the repair, but most babies with omphalocele also have other conditions, which in some cases, may affect them throughout their lives. Your health care team will discuss the specifics of your baby’s condition.