Omphalocele

Omphalocele is a congenital condition in which an infant’s abdominal organs develop outside their belly.

An omphalocele is an abnormality that involves the intestines, liver, and occasionally other organs sticking out through an opening in the belly button. The organs are covered by a transparent sac.

Babies with omphalocele may also have abnormalities affecting other areas of the body, including the spine, intestines, heart, urinary tract, and limbs.

Learn more about omphalocele, including its definition, causes, symptoms, diagnosis, treatment, and potential risks and complications.

What is omphalocele?

Omphalocele is a birth defect characterized by the protrusion of abdominal organs through an opening in the abdominal wall at the base of the umbilical cord. These organs are covered by a thin, transparent sac made of amnion and peritoneum. The size of the defect can vary, and the condition is often associated with other congenital abnormalities and genetic conditions.

What causes omphalocele?

During fetal development, the intestines bulge into the umbilical cord between 6 – 10 weeks. By week 11, the intestines should return to the abdomen.

An omphalocele occurs if the intestines do not return to the abdomen.

While the exact cause of omphalocele is not known, researchers are studying the risk factors that may contribute to omphalocele. These may include:

• Genetic abnormalities: Omphalocele is often associated with genetic syndromes and chromosomal abnormalities, such as trisomy 13, trisomy 18, and Beckwith-Wiedemann syndrome. Genetic factors can influence the proper development of the abdominal wall.
• Being over 35
• Drinking alcohol
• Smoking
• Environmental factors: Maternal health factors, such as obesity, diabetes, high blood pressure, and exposure to certain medications or toxins during pregnancy may contribute to the risk of developing omphalocele.

Symptoms of omphalocele

Babies born with omphalocele have a clear sac protruding from the umbilical area. This sac contains the intestines and possibly other organs.

Omphalocele can be associated with other problems and complications, such as:

• Other congenital anomalies: Infants with omphalocele may have other congenital defects, such as heart defects, neural tube defects, or gastrointestinal malformations.
• Small size or growth restriction: Some infants may have intrauterine growth restriction (IUGR) or be small for their gestational age.
• Beckwith-Wiedman syndrome: A condition that causes a large tongue, high insulin, and low blood sugar
• Chromosomal abnormalities
• Intestines that are slow to handle food
• Poor lung development

Diagnosis of omphalocele

To diagnose omphalocele, a health care provider may use tests including:

• Ultrasound: Routine prenatal ultrasounds can detect omphalocele as early as the first trimester. The defect appears as a mass protruding from the abdomen, covered by a membrane.
• Maternal serum screening: Elevated levels of alpha-fetoprotein (AFP) in the mother’s blood can indicate the presence of abdominal wall defects like omphalocele.
• Fetal MRI: Detailed imaging to further assess the extent of the defect and involvement of other organs.
• Physical examination: The presence of a visible membranous sac at the umbilical area confirms the diagnosis.
• Echocardiogram: To evaluate for associated congenital heart defects.
• Genetic testing: Chromosomal analysis to identify any underlying genetic disorders.

Treatment of Omphalocele

Immediate postnatal care

• Protecting the sac: Sterile, moist dressings are applied to the sac to prevent infection and dehydration of the exposed organs.
• Stabilization: Newborns are stabilized with appropriate respiratory and cardiovascular support. Intravenous fluids are administered to maintain hydration and electrolyte balance.

Surgical treatment

• Primary closure: For small omphaloceles, surgeons may be able to close the abdominal wall defect shortly after birth by placing the organs back into the abdomen and suturing the opening.
• Staged repair: For large omphaloceles, a staged approach may be necessary. The sac is gradually reduced, and the abdominal cavity is slowly expanded over days to weeks before final closure:
  • Silo placement: A silo (a protective pouch) is placed over the omphalocele, and the organs are gradually pushed back into the abdomen.
  • Delayed closure: Once the organs are repositioned, the abdominal wall is surgically closed in a second procedure.

Specialized care

• Neonatal intensive care: Infants often require care in a neonatal intensive care unit (NICU) for close monitoring and support.
• Multidisciplinary team: Care involves a team of specialists, including pediatric surgeons, neonatologists, geneticists, cardiologists, and other relevant specialists for comprehensive management.

Long-term care

• Nutritional support: Monitoring and supporting nutritional intake, including enteral or parenteral feeding as needed.
• Monitoring growth and development: Regular follow-up to assess the infant’s growth, development, and overall health.
• Management of associated anomalies: Ongoing care for any other congenital abnormalities or complications.

Potential risks and complications

Complications of untreated omphalocele

• Infection: The sac can become infected if not properly managed, leading to sepsis.
• Organ damage: Prolonged exposure of the abdominal organs can result in damage and impaired function.

Long-term considerations

• Gastrointestinal issues: Potential long-term gastrointestinal problems, such as feeding difficulties, gastroesophageal reflux, or bowel obstruction.
• Developmental delays: Monitoring for any developmental delays, particularly in infants with associated congenital anomalies or chromosomal abnormalities.
• Cosmetic concerns: Scar formation and the potential need for additional surgeries to address cosmetic or functional issues.

Impact on quality of life

• Physical health: Successful treatment can restore normal abdominal structure and improve overall health.
• Emotional and psychological support: Providing support for families dealing with the stress and challenges of managing a congenital condition.
• Growth and development: Ensuring appropriate interventions and therapies to support growth and developmental milestones.

Omphalocele is a serious congenital defect that requires timely diagnosis and intervention to prevent severe complications and improve outcomes. Understanding the causes, symptoms, diagnostic methods, and treatment options is essential for effective management. If you or a loved one are expecting a child with omphalocele, consulting with a specialized medical team will help develop a comprehensive treatment plan tailored to the infant’s specific needs and circumstances.