Omphalocele

What is an omphalocele?

An omphalocele (uhm-FA-lo-seal) is a congenital (present at birth) abnormality in which a baby’s abdominal organs stick out through an opening at their belly button. A transparent (see-through) membrane made of peritoneum covers these organs.

An omphalocele develops in the uterus, before birth:

• Six to 10 weeks: In early pregnancy, the fetus’s intestines bulge into the umbilical cord as it grows. This push is normal.
• By 11 weeks: Typically, the intestines return to the abdomen. If that doesn’t happen, an omphalocele develops.

More than two-thirds of babies with omphalocele may also have abnormalities of the:

• Spine.
• Digestive system.
• Heart.
• Urinary system.
• Limbs.

Another name for omphalocele is exomphalos.

Types of omphalocele

An omphalocele may be small or large:

• Small omphalocele: A portion of the intestine sticks out of the belly. The defect measures less than 5 centimeters in diameter.
• Large omphalocele: Most of the abdominal organs (including the intestines, liver and spleen) stick out of the belly. The defect measures more than 5 centimeters in diameter. Healthcare providers call these giant omphaloceles.

How common is omphalocele?

Approximately 1 in every 4,200 babies in the United States is born with an omphalocele.

Why do babies get omphalocele?

Between the sixth and the 10th weeks of pregnancy, the intestines bulge into the umbilical cord as they’re growing. This is normal. By the 11th week of development, the intestines should return to the abdomen. If this doesn’t happen, an omphalocele occurs.

Experts don’t know why some babies develop omphalocele and others don’t, or whether you can do anything during pregnancy to prevent it.

What are the risk factors for omphalocele?

Researchers are studying risk factors for omphalocele. These factors may affect your risk of having a baby with an omphalocele:

• Being over 35.
• Drinking alcohol.
• Exposure to certain chemicals or toxins. Some studies suggest that exposure to certain environmental factors — like pesticides or solvents — during pregnancy may increase the risk of omphalocele.
• Genetics. Omphalocele sometimes occurs in families, suggesting a possible genetic component. It’s also associated with chromosomal abnormalities like trisomy 13, trisomy 18, and trisomy 21 (Down syndrome).
• Parental health conditions. Certain health conditions in the birth parent — like obesity, diabetes or high blood pressure — may increase the risk of omphalocele.
• Parental nutritional deficiencies: Poor nutrition or certain vitamin deficiencies in the birth parent during pregnancy may increase the risk of omphalocele.
• Smoking.
• Taking certain medications. Some studies suggest that taking certain medications during pregnancy — like selective serotonin reuptake inhibitors (SSRIs) or certain fertility drugs — may increase the risk of omphalocele.

What are the complications of omphalocele?

Babies born with an omphalocele frequently have other complications, including:

• Beckwith-Wiedeman syndrome (a condition that causes a large tongue, high insulin and low blood sugar).
• Chromosomal abnormalities.
• Heart malformations.
• Intestines that are slow to handle food.
• Poor lung development.

Healthcare providers usually spot an omphalocele during pregnancy. They’ll discuss the condition with you, including the treatment your baby will need after birth. Right after delivery, the care team takes steps to protect and treat your baby.

How is omphalocele diagnosed?

Healthcare providers typically diagnose an omphalocele during the second and third trimesters of pregnancy using a prenatal ultrasound. They can see the organs developing outside the fetus’s abdominal wall. Once discovered, your provider will likely order a fetal echocardiogram (ultrasound of the heart) to check for heart abnormalities before birth.

Sometimes, providers can’t detect omphalocele during pregnancy. If that happens, the issue will be evident soon after birth. Your care team will take immediate steps to protect your baby’s health.

What tests will my baby and I need?

If your provider diagnoses a developing fetus, you might have more tests for the rest of your pregnancy. These tests may include:

• Amniocentesis: During an amniocentesis, your provider removes fluid from inside your uterus. Then, they’ll analyze the fluid for chromosomal issues.
• Blood tests: Providers check your blood for high levels of alpha-fetoprotein. The fetal liver produces this protein, which then passes into the pregnant person’s blood. High levels can show that a fetus needs further evaluation.
• MRI (magnetic resonance imaging): You may need this imaging to check on the fetus’s heart, lungs and other organs.
• Ultrasound: Frequent ultrasounds help your provider check fetal growth.

After your baby is born, your healthcare provider will examine the omphalocele and order further tests if necessary.

How is an omphalocele treated?

Omphalocele treatment depends on many things, including:

• Gestational age of the fetus, or the week of pregnancy your baby was born.
• The overall health of your baby.
• The severity of the condition.
• The size of the omphalocele.
• Whether the omphalocele is intact.

Treating a small omphalocele

For a small omphalocele, surgeons do an operation soon after birth. This surgery puts the organs back into your baby’s belly and closes the hole in their abdominal wall to avoid infection or tissue damage.

Treating a giant omphalocele

If your baby has a large omphalocele with many organs involved, surgeons usually do the operation in stages. They gradually move the organs back into your baby’s belly over days or weeks. The care team covers the organs with a sterile sheet to prevent infection.

Surgeons use this staged approach for a giant omphalocele because it’s the safest way. The baby’s abdomen is too small and not developed enough to hold all the organs at once. The organs also won’t get the blood flow they need in a small space. Waiting allows the abdomen to grow. In most cases, your baby will have a second surgery within two weeks to re-establish normal anatomy.

The surgeon may need to stretch the abdominal skin to cover the opening. In some cases, your baby might need a skin flap to cover the area. A skin flap is when surgeons move tissue from one part of the body to another part.

Babies with omphalocele who have underdeveloped abdominal cavities often have breathing difficulties and may need the help of a ventilator until they can breathe on their own.

Will my baby eat after surgery?

Once your baby is ready to go home, they’re usually eating normally. If they have other complications, like heart or lung problems, they may need a feeding tube. Most babies don’t need this help, though.

Are there activity restrictions after surgery?

Your baby can do appropriate activities for their age and developmental stage.

Can omphalocele be prevented?

Researchers are studying ways to stop omphalocele from happening. It’s not clear if there are any actions you can take during pregnancy to prevent it.

In general, you can try the following to reduce the chance of complications for your pregnancy and newborn:

• Avoid alcohol.
• Stop smoking.
• Maintain a weight that’s healthy for you.

What’s the outlook for babies with omphaloceles?

The outlook depends on the size of the omphalocele. It also depends on whether the baby has other health conditions.

If the omphalocele is the only health issue, your baby will likely make a full recovery. Omphaloceles often come with other birth defects, though. These conditions may continue to affect your baby’s health or result in complications later in life. Your healthcare provider will discuss the prognosis with you in detail.

What is the life expectancy of a baby with an omphalocele?

The overall survival rate for babies born with omphalocele is 95%. But several factors determine these statistics, including whether the baby has additional health conditions and which body systems these conditions affect.

Your healthcare provider is here for you. They’re the best person to help you understand your situation.

How do I deliver a baby with an omphalocele?

It’s best to have your baby in a hospital with the specialists and equipment needed to provide care right away. Your provider will discuss your delivery options with you. You might need a cesarean section (C-section), especially if your baby has a giant omphalocele.

When should I call my baby’s healthcare provider?

Call your provider after surgery if you notice:

• Drainage from the wound.
• Fever.
• Vomiting, especially if it’s green (may indicate an intestinal blockage).
• Wound redness.

Can omphalocele correct itself?

In rare instances, very tiny omphaloceles may close on their own. But in most cases, babies with this condition need surgery.

A note from Cleveland Clinic

Hearing that your baby has a congenital condition like an omphalocele can feel terrifying — and the uncertainty you feel can add to the stress of your pregnancy. Your healthcare team is here for you. Don’t hesitate to ask questions and lean on them for support. They’ll tell you what to expect during delivery and outline the care plan for your little one afterward.