Omphalocele and gastroschisis

Last reviewed: March 2019

Last updated: November 2018

Summary

Gastroschisis and omphalocele are defects of the abdominal wall that occur in utero, can be detected antenatally using fetal ultrasonography, and result in herniation of abdominal contents.

In contrast to omphalocele, there is no sac covering the intestines in gastroschisis.

The significant fluid balance changes and heat loss from exposed intestines in gastroschisis require emergency surgical intervention to establish abdominal wall closure or temporary coverage.

The lack of a protective sac in gastroschisis exposes the intestines to amniotic fluid in utero, leading to a thick inflammatory film or peel overlying the intestine and causing delay of return of normal bowel function after closure.

The most commonly associated anomaly of gastroschisis is intestinal atresia, which occurs in 10% to 15% of cases, and is related to ischaemia of the exposed gut caused by constriction of its mesenteric blood supply at the level of the abdominal wall defect.

The most common cause of mortality in omphalocele relates to associated organ system and chromosomal anomalies such as pentalogy of Cantrell and Beckwith-Wiedemann syndrome, which are characterised by cardiac anomalies and chromosomal defects.

Successful postnatal management of all abdominal wall defects is focused on timely abdominal wall closure, temperature maintenance, fluid resuscitation, and prevention of additional fluid loss from the abdominal contents, as well as prevention of ischaemia and infarction of the intestine.

Definition

Gastroschisis and omphalocele are congenital defects of the abdominal wall resulting in intestinal herniation from the abdominal cavity. They can be detected antenatally using fetal ultrasonography. Limited studies have attempted to categorise gastroschisis defects into subsets of simple or complex defects, with simple gastroschisis existing as an isolated defect, and complex gastroschisis occurring with other gastrointestinal anomalies such as intestinal atresia, perforation, necrosis, or volvulus.

History and exam

Key diagnostic factors

presence of risk factors
maternal age <20 years (gastroschisis)
maternal age >40 years (omphalocele)
elevated maternal serum alpha-fetoprotein (gastroschisis)
positive antenatal 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 >40 years (omphalocele)
smoking
maternal infection during pregnancy

Full details

Diagnostic investigations

1st investigations to order

clinical diagnosis

Full details

Treatment algorithm

ACUTE

gastroschisis

omphalocele

Contributors

Authors VIEW ALL 

Cynthia L. Leaphart, BA, BS, MD

Patient Safety

University of Florida College of Medicine

Jacksonville

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. JTT declares that he has no competing interests.

Peer reviewers VIEW ALL 

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

Emeritus Nuffield Professor of Paediatric Surgery

Institute of Child Health

University College

London

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

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

Disclosures

RH declares that she has no competing interests.

Shilpi Chabra, MD

Assistant Professor

Department of Pediatrics

University of Washington Medical Center

Seattle

Disclosures

SC declares that he has no competing interests.

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Omphalocele and gastroschisis

Summary

Definition

History and exam

Key diagnostic factors

Risk factors

Diagnostic investigations

1st investigations to order

Treatment algorithm

gastroschisis

omphalocele

Contributors

Authors VIEW ALL 

Cynthia L. Leaphart, BA, BS, MD

Disclosures

Acknowledgements

Peer reviewers VIEW ALL 

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

Disclosures

Fizan Abdullah, MD, PhD

Disclosures

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

Disclosures

Shilpi Chabra, MD

Disclosures

Differentials

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