Omphalocele is a congenital opening in the abdominal wall at the umbilicus that allows abdominal organs to protrude into a protective sac. Because the sac is covered by amnion and peritoneum, babies with omphalocele can be stabilized and treated, but the condition still requires careful planning and expert care. The size of the defect and any associated conditions—especially heart and chromosomal abnormalities—strongly influence treatment and outcomes. Early prenatal diagnosis, coordinated delivery planning, and staged surgical repair help many infants recover and thrive.

Omphalocele is a midline abdominal wall defect at the umbilical ring in which bowel and sometimes other organs herniate into a translucent sac composed of peritoneum (inner layer) and amnion (outer layer). The umbilical cord inserts at the apex of the sac.

Key points

• Different from gastroschisis: typically a right‑sided paraumbilical defect without a covering sac and usually bowel only.
• Covered by a sac unless ruptured during delivery.
• Size ranges from small (often bowel only) to giant (frequently includes liver and much of the viscera).

During normal development, the midgut temporarily herniates into the umbilical cord between weeks 6–10 of gestation to allow rapid growth, then returns to the abdomen by weeks 10–12. Omphalocele occurs when the intestines (and sometimes other organs) fail to return to the abdominal cavity, remaining within a sac at the umbilicus.

Omphalocele is uncommon, but it’s not rare in tertiary centers because many cases are identified before birth. Understanding how frequently it occurs helps families plan delivery and choose hospitals with neonatal surgery and intensive care. Rates differ by geography and maternal factors, and outcomes are strongly shaped by whether other conditions—especially heart or chromosomal differences—are present. Routine prenatal ultrasound means most cases are found during pregnancy, giving teams time to prepare for a safe delivery and timely treatment.

Frequently associated with additional anomalies—particularly cardiac and chromosomal abnormalities—which affect prognosis and care.

• Incidence: ~1 in 4,000–7,000 live births.
• Slight male predominance reported.
• Risk may be higher at extremes of maternal age and varies by geography.

Omphalocele likely results from a combination of genetic and environmental influences. In most cases there isn’t a single cause; rather, several small risk factors can add up during early pregnancy. Certain parent and pregnancy factors—such as extremes of maternal age, obesity, assisted reproductive technologies, and exposure to alcohol, tobacco, or some medicines—may raise the risk. Omphalocele can also occur alongside chromosomal or imprinting conditions, which is why prenatal genetic testing and targeted ultrasound are often recommended.

Maternal and pregnancy factors

• Advanced or very young maternal age (reported in some populations)
• Assisted reproductive technologies (ART)
• Maternal obesity
• Teratogen exposure (e.g., tobacco, alcohol, certain medications)

Genetic/Family factors

• Association with chromosomal and imprinting disorders (see below)
• Family history of abdominal wall defects

The persistent herniation of abdominal contents within the omphalocele sac reflects failed midgut return. Herniated organs may include:

• Small and large intestines
• Stomach
• Liver (common in larger defects)
• Spleen and, rarely, gonads

Because the sac protects the viscera, fluid/heat loss and infection risk are less than with gastroschisis. However, omphalocele is more often associated with other anomalies, which drive overall risk and outcomes.

Up to 50–70% of infants with omphalocele have additional anomalies.

Chromosomal and syndromic

• Trisomy 13
• Trisomy 18
• Trisomy 21
• Turner syndrome
• Beckwith–Wiedemann syndrome (macrosomia, macroglossia, neonatal hypoglycemia, omphalocele)

Cardiac (very common)

• Ventricular septal defect (VSD)
• Atrial septal defect (ASD)
• Tetralogy of Fallot, other complex defects

Genitourinary and other

• Pulmonary hypoplasia in giant omphaloceles
• Cryptorchidism
• Renal anomalies
• Neural tube defects

Omphalocele is most often identified during routine prenatal ultrasound, but it can also be recognized immediately after delivery. A quick overview of what clinicians look for helps families anticipate the next steps in care. Prenatal imaging findings guide delivery planning and determine the best hospital setting for specialized neonatal surgery. After birth, characteristic physical signs confirm the diagnosis and inform urgent stabilization and surgical planning.

Prenatal clues

• Second‑trimester ultrasound: midline anterior wall defect with a sac‑covered herniation; umbilical cord inserts at sac apex
• Possible polyhydramnios
• Maternal serum AFP may be elevated (often less than in gastroschisis)

Postnatal findings

• Size varies from small to giant; sac rupture can expose viscera
• Midline abdominal mass covered by a thin, transparent sac
• Umbilical cord at the sac’s apex

Most families learn about an omphalocele during pregnancy. A routine second‑trimester ultrasound can spot a sac‑covered opening at the umbilicus and trigger a more detailed evaluation for associated heart or chromosomal conditions. Your care team may suggest specialized imaging and prenatal genetic testing to guide delivery planning and early treatment right after birth. After delivery, the diagnosis is confirmed with a careful exam and targeted imaging so surgeons can choose the safest repair strategy.

Prenatal

• Ultrasound: defines the sac, herniated organs, cord insertion; surveys for associated anomalies
• Fetal echocardiography: screens for congenital heart disease
• Amniocentesis: karyotype/microarray given high aneuploidy risk

Postnatal

• Abdominal radiography if rupture suspected to assess bowel position
• Careful physical exam: assess sac integrity, size, and associated anomalies
• Echocardiogram and renal ultrasound for associated defects

Omphalocele vs. Similar Conditions (Differential Diagnosis)

• Gastroschisis: paraumbilical (usually right‑sided), no covering sac, bowel exposed
• Umbilical hernia: skin‑covered and reducible; no sac of amnion/peritoneum
• Bladder exstrophy: exposed bladder mucosa; infraumbilical defect
• Cloacal exstrophy: exposed bladder and intestine with spinal anomalies
• Pentalogy of Cantrell: omphalocele plus midline thoracic/ cardiac defects (e.g., ectopia cordis)

Effective treatment for omphalocele begins before birth with thoughtful delivery planning and continues in the delivery room with rapid, gentle stabilization of the newborn. Early priorities include protecting the sac, preventing heat and fluid loss, and checking for heart or chromosomal conditions that shape the timing and type of repair. Surgeons then select the safest approach—primary closure, staged reduction with a silo, or a delayed “paint‑and‑wait” strategy for giant defects—based on the size of the opening and abdominal domain. After surgery, long‑term follow‑up focuses on feeding and growth, breathing, development, and monitoring for issues like hernias, reflux, or bowel obstruction.

Delivery Planning for Omphalocele

• Mode of delivery depends on sac size and associated issues.
  • Vaginal delivery is often appropriate for small–moderate defects.
  • Cesarean may be considered for giant omphaloceles (e.g., with liver in sac) to reduce rupture risk.
• Deliver in a center with neonatal intensive care and pediatric surgery.

Immediate Postnatal Care for Omphalocele

• Prevent hypothermia: cover sac with warm, sterile, saline‑soaked gauze and plastic wrap
• Position infant to avoid pressure on the sac; avoid kinking of the cord
• Nasogastric decompression to limit bowel distention
• IV fluids and glucose monitoring; correct electrolytes
• Broad‑spectrum antibiotics if sac rupture or infection risk

Surgical Options for Omphalocele

Approach depends on defect size and abdominal domain.

• Primary closure
  • For small defects; remove sac and close fascia/skin when safe
• Staged reduction (silo)
  • For large defects; gradual reduction of viscera over days–weeks, then definitive closure
• Non‑operative delayed closure (“paint and wait”)
  • For giant omphaloceles; topical agents (e.g., silver sulfadiazine) promote epithelialization; delayed closure when abdominal cavity has grown

Perioperative considerations

• Careful monitoring of intra‑abdominal pressure to avoid compartment syndrome and ventilatory compromise
• Early parental counseling; coordinate anesthesia, NICU, surgery, and cardiology teams

Medications and Nutrition in Omphalocele Care

• Parenteral nutrition (TPN): until bowel function supports enteral feeding; advance feeds slowly
• Antibiotics: if rupture or high infection risk
• Analgesia: appropriate pain control peri‑ and post‑operatively

Surgical/early

• Sac rupture with bowel injury or infection
• Abdominal compartment syndrome during reduction/closure
• Respiratory compromise (reduced pulmonary compliance), ventilator dependence
• Feeding intolerance; prolonged TPN with catheter‑related risks

Long‑term

• Ongoing respiratory issues from pulmonary hypoplasia
• Ventral hernia
• Gastroesophageal reflux
• Adhesive small‑bowel obstruction
• Delayed growth or development, especially with large defects or associated anomalies

Taking steps before and during pregnancy can lower the chance of complications linked to omphalocele and improve outcomes if it is present. While no strategy can prevent every case, optimizing maternal health and avoiding harmful exposures can make a meaningful difference. Early and regular prenatal care also helps teams spot associated conditions early and plan delivery at a center with neonatal surgery. Standard folic acid is recommended for all people who could become pregnant to support fetal development, even though it has not been proven to directly prevent omphalocele. The goal is to reduce avoidable risks and ensure rapid, coordinated care from the start.

• Preconception care: optimize weight, manage diabetes, avoid teratogens (alcohol, tobacco, certain meds)
• Prenatal care: early and regular ultrasounds; targeted evaluation for associated conditions
• Folate: while not directly proven to prevent omphalocele, standard periconception folic acid is recommended for overall fetal health

Outcomes vary with defect size, presence of liver herniation, pulmonary hypoplasia, and associated anomalies (especially cardiac and chromosomal).

• Isolated small omphaloceles: generally excellent prognosis
• Large/giant defects with major anomalies: higher morbidity and mortality
• In experienced centers, survival in isolated cases commonly exceeds 90%

Long‑term outlook is favorable for many isolated cases with appropriate surgical repair and multidisciplinary follow‑up. Infants with giant omphaloceles may require prolonged respiratory support, staged repairs, and growth/nutrition support, with early‑intervention services to meet developmental milestones.

Omphalocele is a serious but treatable congenital condition that benefits from early diagnosis, expert delivery planning, and coordinated neonatal and surgical care. Managing associated anomalies—especially cardiac and chromosomal conditions—is central to improving outcomes. With advances in prenatal imaging, NICU care, and surgical techniques, many infants achieve excellent survival and quality of life, particularly when omphalocele is isolated and repair is individualized.

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