What is an Omphalocele?

An omphalocele is a herniation of the umbilical cord in prenatal fetuses and neo-natal infants. It occurs when the abdominal walls do not properly closed during weeks 10-14 of pregnancy, resulting in the abdominal organs herniating into the umbilical cord. Most commonly, the intestines are involved, but larger omphaloceles can include the liver and spleen, as well as other organs in the abdominal cavity in the most severe cases. The involved organs are covered in a thin layer of tissues, referred to as a sac, and can be seen.

The condition is developed in utero and can be seen on ultrasounds as early as the tenth week of pregnancy, although some do go undiagnosed until much later. Between 25%-40% of infants affected by omphalocele are also affected by other congenital birth conditions, such as cardiac malformations or neural tube defects.

Read more about neural tube defects.

What causes an Omphalocele?

An omphalocele is not a genetic condition. However, some cases have been associated by the underlying conditions of Edward's Syndrome (Trisomy 18) or Patau Syndrome (Trisomy 13).

There is no known reason why some babies develop this disorder and some do not, particularly when no underlying genetic disorder is present. Your doctor may want to test your baby with AFP or amniocentesis to see if these conditions are present.

There is no evidence that supports the thought that your baby’s omphalocele was caused by anything you did while pregnant.

Risk Factors for Omphalocele:

There are no known risk factors that can cause your baby to develop an omphalocele. With omphaloceles resulting from underlying genetic disorders, the only risk factors are having a personal or family history of the genetic disorder involved.

Omphaloceles occur in 2.5 out of every 10,000 live births. Unfortunately there is a high rate of mortality associated with this defect, with 25% of babies experiencing death, either before, at, or immediately following birth.

Symptoms of Omphalocele:

The symptoms of an omphalocele can be seen, although these symptoms are also related to other birth defects, so always make sure to consult your physician for diagnosis of your baby's omphalocele.

  • A translucent membrane will be present, covering your baby’s protruding organs.
  • Depending on the severity of the omphalocele, there may be only a small portion of the intestines protruding, or most of the abdominal organs may be visible and present outside the abdominal cavity.
  • It is a possibility that your baby's abdominal cavity may be smaller than normal, due to underdevelopment while in utero. (This can affect the course of your baby's treatment.)
  • Your baby's organs will protrude out of the umbilical area.

Diagnosis of Omphalocele:

There are different levels of severity with omphaloceles. Some omphaloceles can be small, with very little of the intestines protruding from the abdomen, while some have nearly all of the abdominal organs protruding.

In order to determine the severity of your baby's omphalocele, the doctor will need to:

  • Determine that it is, in fact, an omphalocele and not another defect that appears similar, such as gastroschisis.
  • Determine if there are any associated defects.
  • Once these questions have been answered, your doctor will examine the omphalocele and determine the extent of the protrusion of the affected abdominal organs.

Determining the severity of the omphalocele will help your doctor determine the best way to proceed with treatment.

Treatment of Omphalocele:

There are two main options relating to the treatment of your baby's omphalocele, both of which inevitably end in surgery.

The ultimate goal of any omphalocele treatment your baby will undergo is the reduction of the organs back into the abdominal cavity. This can be complicated by an underdeveloped abdominal cavity, which can affect which treatment your baby's doctor decides upon.

Paint and Wait:

This method is used for omphaloceles that are termed "giant", meaning they are too large to immediately repair surgically, sometimes also used when the baby's abdominal cavity is too small to fit all of the organs.

A plastic silo is placed over the organs and changed weekly during the duration of the treatment. This silo provides subtle pressure to the organs, as well as protecting them, and allows gravity and pressure to slowly reduce the organs back into the abdominal cavity. A cream is applied when the dressings are changed under the silo, as well as prescription ointments that encourage toughening and growth of new skin.

This process is considered less invasive and can take between six to twelve months, depending on the severity of the omphalocele.

Surgery is performed after enough skin and muscles have built around the omphalocele to provide adequate coverage for the abdominal organs. However, if the sac surrounding the organs bursts, emergency treatment and surgery is required.

Reduction of Organs:

This method is used when the omphalocele is small enough to be reduced back into the cavity and there is enough muscle and skin in the abdomen to cover the organs.

With this method, a plastic silo is placed over the omphalocele, using pressure and gravity to slowly reduce the organs back into the abdominal cavity. Cream is applied over the sac to protect it from rupture. This method generally takes no more than ten days, and surgery will follow.

Some omphaloceles are so mild they are repaired via surgery immediately. This surgery is minor, in this case, and carries minimal risks. The major complications include death of intestinal tissue and intestinal infections.

Complete recovery from the omphalocele is expected after treatment. However, since this condition sometimes occurs in conjunction with other medical conditions or genetic defects, talk with your pediatrician about your particular circumstances.

Additonal Information about Omphalocele:

As with any medical condition, there are things to watch for when your baby is undergoing treatment for his or her omphalocele. These include:

  • Decreased bowel movements
  • Feeding problems
  • Fever
  • Green or yellow-green vomit
  • Swelling of the abdomen
  • Vomiting that differs from normal spit-up
  • Behavior changes, such as constant crying, or colic-like symptoms
  • Rupture of the sac containing the organs or fluid leakage from the sac

Contact your baby's doctor right away if any of these symptoms manifest, as they could signal a complication.

Other Birth Defects Related to Omphalocele:

Omphalocele can occur with other birth defects as well. Some of these are related to underlying genetic conditions, while others occur in tandem randomly.

  • Heart defects
  • Imperforate anus
  • Urinary problems
  • Genetic disorder
  • Beckwith-Wiedemann syndrome, which enlarged tongue, gigantism, and enlarged internal organs
  • Pentalogy of Cantrell, with is a rare congenital anomaly that affects midline development

To check for these defects, your baby may have to undergo x-rays of the heart, lungs, and diaphragm, as well as genetic testing, once your baby has stabilized after birth. Your doctor may also offer amniocentesis to check for some genetic conditions before your baby is born.

Read more about congenital heart defects.

Read more about cyanotic heart defects.

Tips for living with an Omphalocele:

As with many medical conditions, omphalocele has issues that must be addressed, both during and after treatment.

If you have any of these troubles with your baby, your pediatrician and support groups can help you develop skills to handle them comfortably for you and your baby.

  1. Feeding issues can develop as a result of your baby having been tube-fed, or having reflux. These can be fixed with the help of your pediatrician, as well as occupational and physical therapy.
  2. Some babies will develop reflux as a result of omphalocele. They may also develop gastroesophageal reflux, or GER. This is a common condition in most infants, and help is widely available from your pediatrician. You may be directed to administer antacids to your baby or to feed him or her in an upright position with special bottles.You may have to put your baby to sleep in an upright position or tilt your baby's bed. This is a normal condition and generally will disappear by the time your baby is a year old, barring complications.
  3. Some babies will also experience bowel obstructions as well. This condition should be discussed with your pediatrician before any treatment is given.

Related Resource Pages on Band Back Together:

Birth Defects

Pediatric Caregivers

Congenital Heart Defects

Edward's Syndrome (Trisomy 18) 

Patau Syndrome (Trisomy 13)

Fear

Gastroschisis

Genetic Disorders

Grief

Guilt

High Needs Infants

How to help a friend with a sick child

Life after the NICU

NICU FAQ

NICU FAQ Resources

Additional Resources:

The Children’s Hospital of Philadelphia website, where you can find information relating to omphalocele, including treatment options.

Boston Hospital gives detailed information on the disease as well as information relating to treatment.

The University of California's Fetal Treatment center page for omphalocele.

The US National Library of Medicine includes a page for omphalocele with an informational overview of omphalocele, including diagrams.

MOO (Mothers of Omphalocele), the largest support group for babies and families affected by omphalocele. Includes information, support forums, and stories of children affected by omphalocele.

The March of Dimes website has helpful resources for any and all birth defects.