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Omphalocele and gastroschisis

Last reviewed: 9 Apr 2025
Last updated: 29 Apr 2022

Summary

Definition

History and exam

Key diagnostic factors

  • maternal age <20 years (gastroschisis)
  • maternal age >35 years (omphalocele)
  • elevated maternal serum alpha-fetoprotein (gastroschisis)
  • positive prenatal ultrasound
  • fetal chromosomal abnormalities (omphalocele)
  • abdominal contents external to the abdominal wall
Full details

Risk factors

  • maternal age <20 years (gastroschisis)
  • male sex of neonate (gastroschisis)
  • maternal age >35 years (omphalocele)
  • smoking
  • maternal infection during pregnancy
Full details

Diagnostic tests

1st tests to order

  • clinical diagnosis
Full details

Treatment algorithm

ACUTE

gastroschisis

omphalocele

Contributors

Authors

Cynthia L. Leaphart, BA, BS, MD
Cynthia L. Leaphart

Patient Safety

University of Florida College of Medicine

Jacksonville

FL

Disclosures

CLL declares that she has no competing interests.

Acknowledgements

Dr Cynthia L. Leaphart would like to gratefully acknowledge Dr Joseph T. Tepas, a previous contributor to this topic.

Disclosures

JTT declared that he had no competing interests.

Peer reviewers

Lewis Spitz, MBChB, PhD, FRCS, MD, FRCPCH, FAAP, FCS

Emeritus Nuffield Professor of Paediatric Surgery

Institute of Child Health

University College

London

UK

Disclosures

LS declares that he has no competing interests.

Fizan Abdullah, MD, PhD

Assistant Professor of Surgery

Division of Pediatric Surgery

Johns Hopkins University School of Medicine

Baltimore

MD

Disclosures

FA declares that he has no competing interests.

Ruth Hallows, BSc, MB BS, FRCS, FRCS III (Pediatric Surgery)

Consultant in Paediatric and Neonatal Surgery

Royal Alexandra Children's Hospital

Brighton

UK

Disclosures

RH declares that she has no competing interests.

Shilpi Chabra, MD

Assistant Professor

Department of Pediatrics

University of Washington Medical Center

Seattle

WA

Disclosures

SC declares that he has no competing interests.

References

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Key articles

Torfs CP, Velie EM, Oechsli FW, et al. A population-based study of gastroschisis: demographic, pregnancy, and lifestyle risk factors. Teratology. 1994 Jul;50(1):44-53. Abstract

Langer JC, Harrison MR, Adzick NS, et al. Perinatal management of the fetus with an abdominal wall defect. Fetal Ther. 1987;2(4):216-21. Abstract

Glick PL, Harrison MR, Adzick NS, et al. The missing link in the pathogenesis of gastroschisis. J Pediatr Surg. 1985;20:406-9. Abstract

Snyder CL. Current management of umbilical abnormalities and related anomalies. Semin Pediatr Surg. 2007 Feb;16(1):41-9. Abstract

Sipes SL, Weiner CP, Sipes DR 2nd, et al. Gastroschisis and omphalocele: does either antenatal diagnosis or route of delivery make a difference in perinatal outcome? Obstet Gynecol. 1990 Aug;76(2):195-9. Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

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