Continuing Education Activity

Omphalocele represents a rare congenital abdominal wall defect, occurring in 3.38 per 10,000 pregnancies, characterized by herniation of abdominal contents into a membrane-covered sac at the umbilical cord base. This course reviews chromosomal abnormalities and syndromes, eg, Beckwith-Wiedemann syndrome and trisomies 13, 18, and 21, that are frequently associated with omphaloceles, and their prognosis, which depends largely on the severity of coexisting anomalies, with survival approaching 90% in isolated cases. Participants will also gain an understanding of the pathogenesis, which involves failure of midgut return to the abdominal cavity during embryogenesis, diagnostic findings on prenatal ultrasound and postnatal physical examination, and management including early stabilization, infection prevention, and staged or primary surgical repair based on defect size. This activity for healthcare professionals is designed to enhance the learner's competence in identifying omphalocele and associated syndromes, performing the recommended evaluation, applying screening protocols for malignancy, addressing pulmonary and nutritional complications, and implementing an appropriate interprofessional approach when managing this condition to improve outcomes.

Objectives:

• Identify clinical features of omphalocele to support timely diagnosis across various clinical settings.
• Evaluate patients for associated conditions to guide screening for omphalocele complications.
• Select evidence-based surgical approaches based on the omphalocele defect characteristics.
• Collaborate with interprofessional team members to improve care coordination and outcomes for patients affected with an omphalocele.

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Introduction

Omphalocele represents a rare congenital abdominal wall defect with a reported prevalence of 3.38 per 10,000 pregnancies.[1] This condition involves protrusion of abdominal contents through the base of the umbilical cord, enclosed within a peritoneal membrane. Presentation may occur as an isolated defect; however, association with additional congenital anomalies and syndromes remains more common, including Beckwith-Wiedemann syndrome and trisomies 13, 18, and 21. Overall survival approaches 80% and correlates closely with the severity of associated anomalies, as infants with isolated omphalocele demonstrate improved outcomes, with survival rates reaching approximately 90%.[2]

Etiology

Omphalocele can be associated with several syndromes; the most common is Beckwith-Wiedemann syndrome. Beckwith-Wiedemann syndrome is an overgrowth syndrome characterized by macrosomia, an enlarged tongue, neonatal hypoglycemia, ear creases and pits, hemihypertrophy, visceromegaly, umbilical hernia, embryonal tumors, omphalocele, nephrocalcinosis, medullary sponge kidney, cardiomegaly, and nephromegaly. Traditionally, macrosomia, macroglossia, and hypoglycemia are noted in the neonatal period. Hemihyperplasia is noted in segmental regions of the body or specific organs.[3] 

Developmental and cognitive outcomes are typically normal. Patients with Beckwith-Wiedemann syndrome have an increased risk of cancer during the first 8 years of life, with embryonal tumors, eg, neuroblastoma, hepatoblastoma, and Wilms tumor. These embryonal tumors have a higher cure rate when diagnosed early, making screening paramount for prevention. Screening for hepatoblastoma is performed by measuring serum alpha-fetoprotein every 3 months until 4 years of age, and screening for Wilms tumor is done every 3 months through 8 years of age with a complete abdominal ultrasonography.[4]

Other syndromes associated with omphalocele include:

• Trisomy 13 (Patau syndrome): Small eyes, cleft lip and palate, microcephaly, cryptorchidism, polydactyly, hypertelorism, micrognathia, cutis aplasia, and external ear anomalies.[5]
• Trisomy 18 (Edwards syndrome): Dolichocephaly, external ear anomalies, micrognathia, short palpebral fissures, small face, clenched fist with overriding fingers, hypotonia, and rocker bottom feet.[6]
• Trisomy 21 (Down syndrome): Hypotonia, upslanting palpebral fissures, brachycephaly, low-set ears, single palmar crease, flat nasal bridge, Brushfield spots around the iris, in-curved fifth digits, and a gap between the first and second toes.[7]
• Pentalogy of Cantrell: Ectopia cordis, midline supraumbilical abdominal defect, sternal cleft, and intracardiac defect.[7] 
• Shprintzen-Goldberg syndrome: Craniosynostosis, dolichocephaly, hypertelorism, exophthalmos, strabismus, elongated fingers and limbs, umbilical and abdominal hernias.[8]
• Charge syndrome: Coloboma, heart defect, choanal atresia, growth or developmental retardation, genital abnormality, and ear anomalies.[7]
• Cloacal exstrophy (OEIS) syndrome: exstrophy of the bladder, imperforate anus, and spinal defects.[9]
• Carpenter syndrome: Kleeblattschadel skull deformity (trilobed cloverleaf skull) from pancraniosynostosis, syndactyly in the hands and feet, and mental retardation.[7]
• Marshall-Smith syndrome: Prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, micrognathia, accelerated skeletal maturation, respiratory difficulties, mental retardation.[7]
• Meckel-Gruber syndrome: Occipital encephalocele, cleft lip and palate, microcephaly, microphthalmia, abnormal genitalia, polycystic kidneys, and polydactyly.[7]

Epidemiology

The prevalence of omphalocele in the United States is 2.63 per 10,000 live births.[10] This prevalence increased by 11% between 1999 and 2001, and between 2005 and 2007. Omphalocele appears to develop more frequently in women of extreme reproductive age (younger than 20 and older than 40 years). Omphalocele occurs more commonly in Black compared to White ethnicities. Multiple births and male sex have also been associated with omphalocele. 

Pathophysiology

Disturbance of organogenesis during the embryonic period can result in an omphalocele. Typically, around the sixth week of development, the abdominal contents become too large to be contained in the abdominal cavity and protrude at the base of the umbilical cord. This event is known as physiologic midgut herniation and is easily identified on prenatal ultrasound between the 9 and 11 weeks of gestation. The liver is never present within the physiologic midgut herniation. Please see StatPearls' companion resource, "Embryology Bowel," for further information. However, by 12 weeks' gestation, the hernia resolves; if it persists, the hernia is no longer considered physiological. Omphalocele occurs when the gut contents fail to rotate and return to the abdominal cavity. An omphalocele can occasionally contain the liver in the presence of a large abdominal wall defect. Generally, omphaloceles are associated with advanced maternal age and are known to occur in twins.

History and Physical

Postnatal diagnosis of omphalocele becomes apparent on physical examination through identification of an anterior midline abdominal mass at the site of umbilical cord insertion, covered by a membrane. Lesions vary in size and content, ranging from small defects with only a few intestinal loops protruding to larger defects containing multiple abdominal organs. Giant omphaloceles are defined by defects measuring greater than or equal to 5 cm and often include partial liver herniation. Furthermore, restrictive lung disease frequently affects these infants, necessitating careful staging of surgical repair to optimize respiratory function and overall outcomes.

Evaluation

Prenatal diagnosis relies on ultrasonography, which detects nearly all omphaloceles by the end of the first trimester, along with elevated maternal serum alpha-fetoprotein levels. Please see StatPearls' companion resource, "Sonography 2nd Trimester Assessment, Protocols, and Interpretation," for further information on fetal evaluation. All infants with omphalocele require a comprehensive evaluation to exclude associated congenital disorders, including Beckwith-Wiedemann syndrome and Prader-Willi syndrome.

Treatment / Management

Management of neonates with omphalocele begins with airway stabilization, sterile wrapping of the exposed bowel to preserve heat and minimize insensible fluid loss, placement of an orogastric tube for decompression, and establishment of peripheral intravenous access. Signs of vascular compromise, including tachycardia, hypotension, or a dusky bowel appearance, require positioning the patient with the left side down and right side up. Careful attention to dressing technique remains essential, as excessively wet or circumferential dressings can macerate the sac and impair blood flow. Following initial stabilization, management includes administration of intravenous fluids and broad-spectrum antibiotics.

Small omphaloceles may undergo surgical repair within the first 72 hours of life through primary closure of the skin and fascia. Larger or more complex defects benefit from delayed closure, beginning with silo placement within the first 24 hours of life, followed by gradual reduction over 3 to 7 days before definitive closure.[1] Repair of giant omphaloceles presents significant challenges, particularly when the liver is involved, and often requires patch closure for large defects. Infants generally tolerate oral feedings soon after closure. Topical antibiotics are commonly applied to the omphalocele until complete healing occurs.

Differential Diagnosis

Gastroschisis is the main differential diagnosis of omphalocele. In gastroschisis, the intestinal protrusion is usually to the right of the midline, and there is no involvement of the umbilical cord. The membranous sac is a major distinguishing feature of the 2 conditions: gastroschisis is characterized by free-floating bowel loops, whereas in a giant omphalocele, the membrane can occasionally rupture in utero. Other differential diagnoses include hernias of the umbilical cord with covered abdominal wall defects less than 2 cm, and body stalk anomaly, characterized by an umbilical cord that is absent or severely shortened, associated with scoliosis.

Prognosis

The prognosis largely depends on the size of the defect and associated congenital anomalies and syndromes. As such, large omphaloceles with associated abnormalities have a higher mortality rate. Also, neonates with liver protrusion through the defect appear to have a poorer prognosis. The overall survival rate is close to 80%, which reflects the efficacy of prenatal diagnosis and the decision taken by many families to terminate pregnancies with severe anomalies.[11]

Complications

Omphalocele complications can be categorized by their timing of occurrence. Prenatally and during delivery, the omphalocele may rupture, and in the case of a giant omphalocele, the liver can be injured. The majority of infants with omphalocele have a small thorax with varying degrees of pulmonary hypoplasia. Thus, mechanical ventilation is often required for weeks or even months until the lungs mature.

Infants with omphaloceles often need parenteral nutrition, which can lead to cholestasis and hepatomegaly. Thus, large omphaloceles need a staged repair. Tracheostomies are often needed until the lungs mature. Postnatally and after surgical repair, the complications consist of feeding difficulties, failure to thrive, inguinal hernias, gastroesophageal reflux, and occasionally esophagitis. Compared to gastroschisis, omphaloceles carry much higher mortality.

Deterrence and Patient Education

Deterrence of omphalocele focuses on modifiable maternal risk factors and optimized preconception care. Evidence demonstrates that periconceptional alcohol exposure, including binge drinking, modestly increases the odds of omphalocele, underscoring the importance of counseling patients to avoid alcohol when planning pregnancy and during early gestation.[12] Clinicians should emphasize routine prenatal care, early first-trimester ultrasonography, and appropriate maternal serum screening to facilitate timely detection. Risk stratification based on defect size and liver involvement supports anticipatory guidance, as larger defects and those containing the liver correlate with more complex neonatal courses, including pulmonary hypoplasia and pulmonary hypertension.

Patient education should provide clear, longitudinal counseling beginning at diagnosis. Families benefit from understanding expected neonatal management, potential complications such as gastroesophageal reflux and feeding challenges, and the possibility of prolonged respiratory support. Discussion should also address generally favorable long-term outcomes, while acknowledging that some children may experience motor or cognitive delays.[13] An interprofessional approach involving obstetrics, neonatology, pediatric surgery, and genetics enables coordinated care, individualized counseling based on gestational age and the severity of the anomaly, and structured follow-up, thereby improving clinical outcomes and supporting informed decision-making.

Enhancing Healthcare Team Outcomes

Omphalocele is a rare congenital abdominal wall defect characterized by herniation of abdominal contents into a membrane-covered sac at the umbilical cord base, with a prevalence of 3.38 per 10,000 pregnancies. Pathogenesis involves the failure of the midgut to return to the abdominal cavity during embryogenesis. Frequently associated with chromosomal abnormalities and syndromes such as Beckwith-Wiedemann syndrome and trisomies 13, 18, and 21, prognosis depends on the severity of associated anomalies, with survival approaching 90% in isolated cases. Prenatal diagnosis relies on ultrasonography and elevated maternal serum alpha-fetoprotein levels, while postnatal identification is based on physical examination. Management includes prompt neonatal stabilization, infection prevention, and staged or primary surgical repair based on defect size, with attention to complications such as pulmonary hypoplasia, feeding difficulties, and growth concerns.

Interprofessional collaboration improves outcomes through coordinated, patient-centered care across the continuum. Obstetricians and maternal-fetal medicine specialists lead prenatal diagnosis and counseling, while neonatologists and pediatric surgeons direct stabilization and surgical management. Primary care clinicians and advanced practitioners support longitudinal monitoring and developmental assessment. Nurses ensure meticulous wound care and family education, and pharmacists guide antimicrobial and nutritional therapies, including parenteral nutrition. Geneticists contribute diagnostic evaluation and risk counseling for associated syndromes. Effective communication, shared decision-making, and timely referral promote risk reduction, early detection of complications, and consistent follow-up, optimizing safety and quality of care. Structured communication and collaboration across all disciplines improve patient-centered care, minimize complications, and enhance developmental and survival outcomes for affected infants.[14]

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References

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Brioude F, Hennekam R, Bliek J, Coze C, Eggermann T, Ferrero GB, Kratz C, Bouc YL, Maas SM, Mackay DJG, Maher ER, Mussa A, Netchine I. Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply. Eur J Hum Genet. 2018 Apr;26(4):471-472. [PMC free article: PMC5891506] [PubMed: 29449718]

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Hsu HF, Hou JW. Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism. Am J Med Genet A. 2007 Aug 01;143A(15):1739-48. [PubMed: 17603803]

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Pan YT, Chen CP, Huang JP, Wang LK, Wu FT, Chern SR, Lee CC, Wang W. Concomitant omphalocele, craniorachischisis and ectopic cordis associated with trisomy 18 diagnosed in first trimester. Taiwan J Obstet Gynecol. 2025 Mar;64(2):353-356. [PubMed: 40049825]

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Chen CP. Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. Taiwan J Obstet Gynecol. 2007 Jun;46(2):111-20. [PubMed: 17638618]

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Cherkaoui A, Tossi S, Gotni A, Assal A, Jalal M, Lamrissi A. OIES complex diagnosed by in utero ultrasound a case report. Int J Surg Case Rep. 2024 May;118:109640. [PMC free article: PMC11046060] [PubMed: 38643654]

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Stallings EB, Isenburg JL, Rutkowski RE, Kirby RS, Nembhard WN, Sandidge T, Villavicencio S, Nguyen HH, McMahon DM, Nestoridi E, Pabst LJ., National Birth Defects Prevention Network. National population-based estimates for major birth defects, 2016-2020. Birth Defects Res. 2024 Jan;116(1):e2301. [PMC free article: PMC10898112] [PubMed: 38277408]

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Kirby RS. The prevalence of selected major birth defects in the United States. Semin Perinatol. 2017 Oct;41(6):338-344. [PubMed: 29037343]

12.

Fisher SC, Romitti PA, Tracy M, Howley MM, Jabs EW, Browne ML., National Birth Defects Prevention Study. Associations between maternal periconceptional alcohol consumption and risk of omphalocele among offspring, National Birth Defects Prevention Study, 1997-2011. Prev Med. 2024 Mar;180:107891. [PMC free article: PMC12826076] [PubMed: 38342385]

13.

Rieder W, Maurer SV, Giannoni E, Baud D. Fetal Omphalocele: Review of Predictive Factors Important for Antenatal Counseling? Obstet Gynecol Surv. 2022 Nov;77(11):683-695. [PubMed: 36345106]

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Disclosure: Tarik Zahouani declares no relevant financial relationships with ineligible companies.

Disclosure: Priyam Pattnaik declares no relevant financial relationships with ineligible companies.