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PubMed This is a summary of 22 peer-reviewed journal articles Updated
Maternal-Fetal Medicine

Understanding an Omphalocele Diagnosis

At a Glance

An omphalocele is a congenital abdominal wall defect where a baby's organs grow outside the body in a protective sac. It is not caused by anything the mother did. The prognosis is generally excellent if the omphalocele is isolated, meaning no other genetic or heart conditions are present.

Receiving a prenatal diagnosis of an omphalocele is often a moment of profound shock and anxiety. It is natural to feel overwhelmed, but it is important to know that this condition is a known developmental occurrence and it is not your fault [1]. No specific action you took or didn’t take caused this to happen [1][2].

What is an Omphalocele?

An omphalocele is a type of abdominal wall defect that occurs very early in pregnancy [3]. During normal development, a baby’s intestines grow faster than their abdomen and temporarily move into the umbilical cord [1]. By the end of the first trimester, these organs typically move back inside the belly [2].

In a baby with an omphalocele, the abdominal wall does not seal properly, leaving a “window” at the base of the belly button [3][2]. As a result, some organs—such as the intestines and sometimes the liver—remain outside the body [3][4]. These organs are contained within a thin, transparent, and protective multi-layered membrane called an amnioperitoneal sac (which consists of an inner peritoneum layer, an outer amnion layer, and Wharton’s jelly in between) [3][5].

Omphalocele vs. Gastroschisis

You may hear about another condition called gastroschisis. While both involve organs outside the body, they are very different:

Feature Omphalocele Gastroschisis
Protective Sac Organs are covered by a multi-layered membrane [4][5]. No membrane; organs are exposed to amniotic fluid [4][6].
Location Centered at the belly button [7][8]. Usually to the right of the belly button [4][6].
Associated Risks Higher chance of heart or genetic concerns [9][10]. Lower chance of genetic concerns; focus is on bowel health [9][11].

Understanding the Prognosis

The word “prognosis” refers to the likely outcome or course of a condition. For omphalocele, the outlook depends largely on whether the defect is “isolated” or “non-isolated.”

  • Isolated Omphalocele: This means the omphalocele is the only medical concern identified. For these babies, the survival rate and long-term outlook are generally very good [12][13].
  • Non-Isolated Omphalocele: This means there are other findings, such as heart defects or chromosomal variations [9][11]. In these cases, the baby’s health is often determined more by these other factors than by the omphalocele itself [14][15].

Immediate Stabilizing Facts

As you begin this journey, keep these facts in mind to help ground your perspective:

  1. The Sac is Protective: Unlike other defects, the omphalocele sac acts as a natural barrier, protecting the organs from the surrounding fluid during pregnancy [16][17].
  2. High Survival Rates: For babies without major heart or genetic issues, survival rates are high [12][18].
  3. Modern Management: Care for omphalocele has advanced significantly. Your medical team will likely include specialists from maternal-fetal medicine (high-risk pregnancy doctors), pediatric surgery, and neonatology (specialists in newborn care) to create a tailored plan for your baby [19][20].
  4. Lung Development is Key: A primary focus for your doctors will be monitoring how your baby’s lungs grow, as the size of the omphalocele can sometimes affect space for the lungs to develop [21][22].

While the path ahead involves many appointments and specialized monitoring, focusing on the information available today can help you navigate the initial days following a diagnosis.

Common questions in this guide

What is an omphalocele?
An omphalocele is an abdominal wall defect that occurs early in pregnancy. The baby's intestines or other organs remain outside the body at the belly button, contained within a thin, multi-layered protective membrane.
Did I do something to cause my baby's omphalocele?
No, an omphalocele is a developmental occurrence and is not your fault. No specific action you took or avoided during pregnancy caused this condition to happen.
What is the difference between an omphalocele and gastroschisis?
In an omphalocele, the organs are centered at the belly button and protected by a multi-layered sac. In gastroschisis, the organs are usually to the right of the belly button and exposed directly to amniotic fluid without a protective membrane.
What does it mean if an omphalocele is isolated?
An isolated omphalocele means the abdominal wall defect is the only medical concern identified in the baby. Babies with isolated omphaloceles generally have very high survival rates and a positive long-term outlook.
Why will doctors monitor my baby's lung development?
The size of an omphalocele can sometimes affect the space available in the baby's chest. Doctors carefully monitor lung growth during pregnancy to ensure the baby will be able to breathe well after birth.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Is the omphalocele considered 'isolated,' or have any other structural or chromosomal concerns been identified?
  2. 2.Does the sac contain only the baby's intestines, or is the liver also involved?
  3. 3.What is the current size of the defect, and how might that affect the delivery plan?
  4. 4.Can you walk me through the next steps for monitoring the baby’s heart and lung development?
  5. 5.Will I be able to meet with the pediatric surgery and neonatology teams before the birth?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (22)
  1. 1

    Unraveling the genetic basis of omphalocele: A systematic review.

    Bousquet M, Le Guillou X, Jeanne M, et al.

    Journal of pediatric surgery 2026; (61(5)):163015 doi:10.1016/j.jpedsurg.2026.163015.

    PMID: 41698527
  2. 2

    Anatomy and embryology of abdominal wall defects.

    Khan FA, Raymond SL, Hashmi A, Islam S

    Seminars in pediatric surgery 2022; (31(6)):151230 doi:10.1016/j.sempedsurg.2022.151230.

    PMID: 36446303
  3. 3

    Enhancing Omphalocele Care: Navigating Complications and Innovative Treatment Approaches.

    Malhotra R, Malhotra B, Ramteke H

    Cureus 2023; (15(10)):e47638 doi:10.7759/cureus.47638.

    PMID: 38021990
  4. 4

    Management of Abdominal Wall Defects.

    Staab V

    The Surgical clinics of North America 2022; (102(5)):809-820 doi:10.1016/j.suc.2022.07.011.

    PMID: 36209747
  5. 5

    Fetal anterior abdominal wall defects: prenatal imaging by magnetic resonance imaging.

    Victoria T, Andronikou S, Bowen D, et al.

    Pediatric radiology 2018; (48(4)):499-512 doi:10.1007/s00247-017-3914-x.

    PMID: 29550866
  6. 6

    Insights into the etiology and embryology of gastroschisis.

    Beaudoin S

    Seminars in pediatric surgery 2018; (27(5)):283-288 doi:10.1053/j.sempedsurg.2018.08.005.

    PMID: 30413258
  7. 7

    Key anatomic findings on fetal ultrasound and MRI in the prenatal diagnosis of bladder and cloacal exstrophy.

    Weiss DA, Oliver ER, Borer JG, et al.

    Journal of pediatric urology 2020; (16(5)):665-671 doi:10.1016/j.jpurol.2020.07.024.

    PMID: 32773250
  8. 8

    Ultrasound Features and Management of Body Stalk Anomaly.

    Panaitescu AM, Ushakov F, Kalaskar A, Pandya PP

    Fetal diagnosis and therapy 2016; (40(4)):285-290 doi:10.1159/000444299.

    PMID: 26928926
  9. 9

    Perinatal outcomes of antenatally diagnosed omphalocele and gastroschisis: a survey from a university hospital.

    Madazli R, Kaymak D, Arıca G, et al.

    Journal of the Turkish German Gynecological Association 2024; (25(3)):152-158 doi:10.4274/jtgga.galenos.2023.2023-6-10.

    PMID: 39219228
  10. 10

    A Review of Covered Abdominal Wall Defects: Cord Hernias Are Associated With Major Anomalies.

    Menchaca AD, Style CC, Chawla M, et al.

    The Journal of surgical research 2023; (284()):230-236 doi:10.1016/j.jss.2022.11.068.

    PMID: 36587483
  11. 11

    Pregnancy outcomes and prenatal traditional karyotype analysis with fetal omphalocele.

    Yucel Celik O, Keles A, Obut M, et al.

    Minerva obstetrics and gynecology 2023; (75(2)):87-92 doi:10.23736/S2724-606X.21.04917-4.

    PMID: 37052892
  12. 12

    Early surgical management for giant omphalocele: Results and prognostic factors.

    Roux N, Jakubowicz D, Salomon L, et al.

    Journal of pediatric surgery 2018; (53(10)):1908-1913 doi:10.1016/j.jpedsurg.2018.04.036.

    PMID: 29803304
  13. 13

    Antenatal diagnosis of isolated omphalocele.

    Lamquami S, Mamouni N, Errarhay S, et al.

    The Pan African medical journal 2015; (21()):233 doi:10.11604/pamj.2015.21.233.7151.

    PMID: 26523175
  14. 14

    Omphalocele-What should we tell the prospective parents?

    Adams AD, Stover S, Rac MW

    Prenatal diagnosis 2021; (41(4)):486-496 doi:10.1002/pd.5886.

    PMID: 33540475
  15. 15

    Mortality in neonates with giant omphalocele subjected to a surgical technique in Barranquilla, Colombia from 1994 to 2019.

    Barrios-Sanjuanelo A, Abelló-Munarriz C, Cardona-Arias JA

    Scientific reports 2021; (11(1)):310 doi:10.1038/s41598-020-78991-y.

    PMID: 33431922
  16. 16

    Prospective outlook on negative pressure wound therapy (NPWT) for gastroschisis and ruptured omphalocele: A scoping review.

    Kloping NA, Barmadisatrio

    The Medical journal of Malaysia 2025; (80(Suppl 7)):69-80.

    PMID: 41451725
  17. 17

    Ruptured giant omphalocele with congenital short small intestine: a case report.

    Zhang W, Wu Y, Pan C, et al.

    Frontiers in nutrition 2024; (11()):1421033 doi:10.3389/fnut.2024.1421033.

    PMID: 39091686
  18. 18

    Omphalocele and Gastroschisis in Newborns: Over 16 Years of Experience from a Single Clinic.

    Watanabe S, Suzuki T, Hara F, et al.

    Journal of neonatal surgery 2017; (6(2)):27 doi:10.21699/jns.v6i2.530.

    PMID: 28770124
  19. 19

    Prenatal diagnosis and management of omphalocele.

    Verla MA, Style CC, Olutoye OO

    Seminars in pediatric surgery 2019; (28(2)):84-88 doi:10.1053/j.sempedsurg.2019.04.007.

    PMID: 31072463
  20. 20

    Omphalocele: from diagnosis to growth and development at 2 years of age.

    Hijkoop A, Peters NCJ, Lechner RL, et al.

    Archives of disease in childhood. Fetal and neonatal edition 2019; (104(1)):F18-F23 doi:10.1136/archdischild-2017-314700.

    PMID: 29563149
  21. 21

    Omphalocele and Associated Anomalies: Exploring Pulmonary Development and Genetic Correlations-A Literature Review.

    Al Namat D, Roșca RA, Al Namat R, et al.

    Diagnostics (Basel, Switzerland) 2025; (15(6)) doi:10.3390/diagnostics15060675.

    PMID: 40150018
  22. 22

    Pulmonary hypertension predicts mortality in infants with omphalocele.

    Baerg JE, Thorpe DL, Sharp NE, et al.

    Journal of neonatal-perinatal medicine 2015; (8(4)):333-8 doi:10.3233/NPM-15915011.

    PMID: 26836821

This page explains omphalocele diagnoses for educational purposes. Always consult your maternal-fetal medicine specialist for medical advice regarding your specific pregnancy.

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