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Gastroschisis

Rare and Inherited Diseases · NLM MeSH · updated 2026-10-29 · version 1

Citations verified against PubMedNot yet clinician-reviewed10 referencesApproximately 5 min read

A congenital defect with major fissure in the abdominal wall lateral to, but not at, the umbilicus.

Table of Contents

1. Definition2. Research landscape3. Reading the evidence4. Open-access studies5. Key reviews6. References7. About this article

Definition and research guide

This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.

Content available: 4 complete abstracts (947 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.

Definition

A congenital defect with major fissure in the abdominal wall lateral to, but not at, the umbilicus. This results in the extrusion of viscera. Unlike omphalocele, herniated structures in gastroschisis are not covered by a sac or peritoneum.

Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.

Also known as: Gastroschises; Congenital Fissure of the Abdominal Cavity.

Where it fits in the MeSH classification

Broader topics
Musculoskeletal Abnormalities; Hernia, Abdominal

Related concepts

  • Abdominal Wall
  • Umbilicus
  • Viscera
  • Omphalocele
  • Peritoneum

Research landscape

PubMed indexes 1,678 records tagged with the MeSH heading “Gastroschisis” (counts retrieved 2026-10-29). 394 of them (23.5%) were published from 2020 onward, and the busiest period so far is 2010-2019 with 701 records.

Reviews account for 198 records (11.8%) and meta-analyses for 29. Randomized controlled trials number 13 (0.8%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.

PubMed records by publication periodthrough 1999: 53 records; 2000-2009: 530 records; 2010-2019: 701 records; 2020 onward: 394 records53through 19995302000-20097012010-20193942020 onward
Records in PubMed indexed with this heading, by publication period. Real counts from NCBI E-utilities; the final period covers only part of the current year. Volume reflects how much has been published, not how strong the evidence is.
Show the data
PeriodRecords
through 199953
2000-2009530
2010-2019701
2020 onward394
Share of records by publication typeReviews: 11.8 percent; Meta-analyses: 1.7 percent; Randomized controlled trials: 0.8 percentReviews11.8% (198)Meta-analyses1.7% (29)Randomized controlled trials0.8% (13)
Share of all PubMed records on this heading that carry each publication type. Types overlap with other records, so the shares do not sum to 100%.
Publication-type chart data
Publication types among 1,678 PubMed records
TypeRecordsShare
Reviews19811.8%
Meta-analyses291.7%
Randomized controlled trials130.8%

Method: PubMed query "Gastroschisis"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.

Reading the evidence in rare and inherited diseases

Rare conditions are difficult to study: few patients means small studies, case reports and registries are common, and randomized trials are the exception. Small samples limit precision and can exaggerate effects, and cases reported in the literature may be the most severe or unusual. Evidence from many small studies is best read together. Check how patients were identified, how many were included and how long they were followed.

Evidence from open-access studies

These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.

Study comparison — selected abstracts, not a systematic review
Study / authorsYearSource label / designEurope PMC citationsLicence / source
Development of a gastroschisis core outcome set
Allin BSR, Hall NJ, Ross AR, Marven SS, Kurinczuk JJ, Knight M, et al.
2019Research article
Design not recorded in structured metadata
48cc by
PMID 29540463 · DOI · PMC6762000
Gastroschisis Trends and Ecologic Link to Opioid Prescription Rates - United States, 2006-2015
Short TD, Stallings EB, Isenburg J, O'Leary LA, Yazdy MM, Bohm MK, et al.
2019Research article
Design not recorded in structured metadata
45cc by
PMID 30653484 · DOI · PMC6336188
Zonulin: A Potential Marker of Intestine Injury in Newborns
Tarko A, Suchojad A, Michalec M, Majcherczyk M, Brzozowska A, Maruniak-Chudek I
2017Research article
Design not recorded in structured metadata
23cc by
PMID 28769143 · DOI · PMC5523403
Exclusive human milk for infants with gastroschisis: A systematic review and meta-analysis
Suntharalingam H, Armstrong J, Briatico D, Huisman E, Shah PS, Livingston MH
2026Meta-analysis
Design not recorded in structured metadata
1cc by
PMID 41061662 · DOI · PMC12982548

Development of a gastroschisis core outcome set [1]

Research article Allin BSR, Hall NJ, Ross AR, Marven SS, Kurinczuk JJ, Knight M, et al. · · 2019 · cited 48 times (Europe PMC)

Abstract reading summary — source excerpts
Opening excerpt
ObjectiveOutcome reporting heterogeneity impedes identification of gold standard treatments for children born with gastroschisis.
Closing excerpt
Implementing use of the COS will increase the potential for identification of gold standard treatments for the management of children born with gastroschisis.
Interpretation limits
Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (246 words)

ObjectiveOutcome reporting heterogeneity impedes identification of gold standard treatments for children born with gastroschisis. Use of core outcome sets (COSs) in research reduces outcome reporting heterogeneity and ensures that studies are relevant to patients. The aim of this study was to develop a gastroschisis COS.Design and settingSystematic reviews and stakeholder nomination were used to identify candidate outcomes that were subsequently prioritised by key stakeholders in a three-phase online Delphi process and face-to-face consensus meeting using a 9-point Likert scale. In phases two and three of the Delphi process, participants were shown graphical and numerical representations of their own, and all panels scores for each outcome respectively and asked to review their previous score in light of this information. Outcomes were carried forward to the consensus meeting if prioritised by two or three stakeholder panels in the third phase of the Delphi process. The COS was formed from outcomes where ≥70% of consensus meeting participants scored the outcome 7-9 and Results71 participants (84%) completed all phases of the Delphi process, during which 87 outcomes were assessed. Eight outcomes, mortality, sepsis, growth, number of operations, severe gastrointestinal complication, time on parenteral nutrition, liver disease and quality of life for the child, met criteria for inclusion in the COS.ConclusionsEight outcomes have been included in the gastroschisis COS as a result of their importance to key stakeholders. Implementing use of the COS will increase the potential for identification of gold standard treatments for the management of children born with gastroschisis.

Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 29540463 · DOI · PMC6762000

Gastroschisis Trends and Ecologic Link to Opioid Prescription Rates - United States, 2006-2015 [2]

Research article Short TD, Stallings EB, Isenburg J, O'Leary LA, Yazdy MM, Bohm MK, et al. · · 2019 · cited 45 times (Europe PMC)

Abstract reading summary — source excerpts
Opening excerpt
Prevalence of gastroschisis, a serious birth defect of the abdominal wall resulting in some of the abdominal contents extending outside the body at birth, has been increasing worldwide (1,2).
Closing excerpt
Public health research is needed to understand factors contributing to the association between young maternal age and gastroschisis and assess the effect of prescription opioid use during pregnancy on this pregnancy outcome.
Interpretation limits
Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (254 words)

Prevalence of gastroschisis, a serious birth defect of the abdominal wall resulting in some of the abdominal contents extending outside the body at birth, has been increasing worldwide (1,2). Gastroschisis requires surgical repair after birth and is associated with digestive and feeding complications during infancy, which can affect development. Recent data from 14 U.S. states indicated an increasing prevalence of gastroschisis from 1995 to 2012 (1). Young maternal age has been strongly associated with gastroschisis, but research suggests that risk factors such as smoking, genitourinary infections, and prescription opioid use also might be associated (3-5). Data from 20 population-based state surveillance programs were pooled and analyzed to assess age-specific gastroschisis prevalence during two 5-year periods, 2006-2010 and 2011-2015, and an ecologic approach was used to compare annual gastroschisis prevalence by annual opioid prescription rate categories. Gastroschisis prevalence increased only slightly (10%) from 2006-2010 to 2011-2015 (prevalence ratio = 1.1, 95% confidence interval [CI] = 1.0-1.1), with the highest prevalence among mothers aged <20 years. During 2006-2015, the prevalence of gastroschisis was 1.6 times higher in counties with high opioid prescription rates (5.1 per 10,000 live births; CI = 4.9-5.3) and 1.4 times higher where opioid prescription rates were medium (4.6 per 10,000 live births; CI = 4.4-4.8) compared with areas with low prescription rates (3.2 per 10,000 live births; CI = 3.1-3.4). Public health research is needed to understand factors contributing to the association between young maternal age and gastroschisis and assess the effect of prescription opioid use during pregnancy on this pregnancy outcome.

Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 30653484 · DOI · PMC6336188

Zonulin: A Potential Marker of Intestine Injury in Newborns [3]

Research article Tarko A, Suchojad A, Michalec M, Majcherczyk M, Brzozowska A, Maruniak-Chudek I · · 2017 · cited 23 times (Europe PMC)

Abstract reading summary — source excerpts
Opening excerpt
IntroductionZonulin (ZO), a new diagnostic biomarker of intestinal permeability, was tested in newborns presenting symptoms of infection and/or inflammation of the gut or being at risk of intestinal pathology.
Closing excerpt
An increase in zonulin may not be parallel to the release of inflammatory markers, and low CRP should not exclude an injury to neonatal intestine.
Interpretation limits
Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (205 words)

IntroductionZonulin (ZO), a new diagnostic biomarker of intestinal permeability, was tested in newborns presenting symptoms of infection and/or inflammation of the gut or being at risk of intestinal pathology.Material and methodsSerum ZO was assessed in 81 newborns diagnosed with sepsis, necrotizing enterocolitis (NEC), rotavirus infection, and gastroschisis, also in extremely low gestational age babies, and in controls (healthy newborns). ZO concentration was compared to C-reactive protein (CRP) and procalcitonin (PCT) values, leucocyte and platelet count, basic demographic data, and the value of the Neonatal Therapeutic Intervention Scoring System (NTISS).ResultsMedian values of ZO were markedly higher in groups with rotavirus infection and gastroschisis (36.0 (1-3Q: 26.0-43.2) and 20.3 (1-3Q: 17.7-28.2) ng/ml, resp.) versus controls (3.5 (1-3Q: 2.7-4.8) ng/ml). Its concentration in the NEC group was twice as high as in controls but did not reach statistical significance. ZO levels were not related to NTISS, CRP, and PCT.ConclusionsZonulin is a promising biomarker of intestinal condition, markedly elevated in rotavirus infections. Its role in defining the severity of necrotizing enterocolitis and the risk for perforation is not well described and needs further evaluation. An increase in zonulin may not be parallel to the release of inflammatory markers, and low CRP should not exclude an injury to neonatal intestine.

Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 28769143 · DOI · PMC5523403

Exclusive human milk for infants with gastroschisis: A systematic review and meta-analysis [4]

Meta-analysis Suntharalingam H, Armstrong J, Briatico D, Huisman E, Shah PS, Livingston MH · · 2026 · cited 1 times (Europe PMC)

Abstract reading summary — source excerpts
Opening excerpt
BackgroundInfants with gastroschisis often experience prolonged stays in hospital as they transition from parenteral nutrition to enteral feeds.
Closing excerpt
Further research is needed to clarify the role of donor human milk.
Interpretation limits
Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (242 words)

BackgroundInfants with gastroschisis often experience prolonged stays in hospital as they transition from parenteral nutrition to enteral feeds. The purpose of this study was to assess the evidence for the use of exclusive human milk compared to formula in these patients.MethodsA structured search was performed using Medline, Embase, and Cochrane Central from inception until March 2025. We included comparative studies of infants with gastroschisis who received exclusive human milk versus supplemental or exclusive formula. Screening and data extraction were completed by two independent reviewers. Results from included studies were meta-analyzed using a random-effects model and reported as risk ratios (RR) with 95% confidence intervals (CI). Risk of bias assessments were performed using the Newcastle-Ottawa Scale. Outcomes included time to enteral autonomy, necrotizing enterocolitis, sepsis, cholestasis, and mortality. Certainty of evidence was summarized using Grading of Recommendations, Assessment, Development and Evaluations criteria.ResultsWe identified 3661 infants with gastroschisis from six retrospective cohort studies and one case-control study. Exclusive human milk was associated with a reduced risk of mortality (RR = 0.38, 95% CI: 0.15-0.99, I2 = 0%). There were no statistically significant differences between groups for necrotizing enterocolitis, cholestasis, or sepsis. These findings were supported by low quality evidence based on retrospective data.ConclusionsThe best available evidence suggests that exclusive breast milk is associated with reduced mortality compared to formula among infants with gastroschisis. This estimate is based on data from retrospective studies. Further research is needed to clarify the role of donor human milk.

Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41061662 · DOI · PMC12982548

Key reviews and meta-analyses

The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.

  • Research article Development of gastroschisis: review of hypotheses, a novel hypothesis, and implications for research [5]
    Feldkamp ML, Carey JC, Sadler TW · Am J Med Genet A · 2007 · cited 134 times (Europe PMC)
  • Research article Complex gastroschisis is a different entity to simple gastroschisis affecting morbidity and mortality-a systematic review and meta-analysis [6]
    Bergholz R, Boettcher M, Reinshagen K, Wenke K · J Pediatr Surg · 2014 · cited 113 times (Europe PMC)
  • Research article Neonatal abdominal wall defects [7]
    Christison-Lagay ER, Kelleher CM, Langer JC · Semin Fetal Neonatal Med · 2011 · cited 105 times (Europe PMC)
  • Research article Gastroschisis and associated defects: an international study [8]
    Mastroiacovo P, Lisi A, Castilla EE, Martínez-Frías ML, Bermejo E, Marengo L, et al. · Am J Med Genet A · 2007 · cited 103 times (Europe PMC)
  • Research article Specific SSRIs and birth defects: Bayesian analysis to interpret new data in the context of previous reports [9]
    Reefhuis J, Devine O, Friedman JM, Louik C, Honein MA, National Birth Defects Prevention Study · BMJ · 2015 · cited 92 times (Europe PMC)
  • Research article The embryologic origin of ventral body wall defects [10]
    Sadler TW · Semin Pediatr Surg · 2010 · cited 79 times (Europe PMC)

References

  1. Allin BSR, Hall NJ, Ross AR, Marven SS, Kurinczuk JJ, Knight M, et al.. Development of a gastroschisis core outcome set. . 2019. PMID 29540463 · DOI · PMC6762000
  2. Short TD, Stallings EB, Isenburg J, O'Leary LA, Yazdy MM, Bohm MK, et al.. Gastroschisis Trends and Ecologic Link to Opioid Prescription Rates - United States, 2006-2015. . 2019. PMID 30653484 · DOI · PMC6336188
  3. Tarko A, Suchojad A, Michalec M, Majcherczyk M, Brzozowska A, Maruniak-Chudek I. Zonulin: A Potential Marker of Intestine Injury in Newborns. . 2017. PMID 28769143 · DOI · PMC5523403
  4. Suntharalingam H, Armstrong J, Briatico D, Huisman E, Shah PS, Livingston MH. Exclusive human milk for infants with gastroschisis: A systematic review and meta-analysis. . 2026. PMID 41061662 · DOI · PMC12982548
  5. Feldkamp ML, Carey JC, Sadler TW. Development of gastroschisis: review of hypotheses, a novel hypothesis, and implications for research. Am J Med Genet A. 2007. PMID 17230493 · DOI
  6. Bergholz R, Boettcher M, Reinshagen K, Wenke K. Complex gastroschisis is a different entity to simple gastroschisis affecting morbidity and mortality-a systematic review and meta-analysis. J Pediatr Surg. 2014. PMID 25280661 · DOI
  7. Christison-Lagay ER, Kelleher CM, Langer JC. Neonatal abdominal wall defects. Semin Fetal Neonatal Med. 2011. PMID 21474399 · DOI
  8. Mastroiacovo P, Lisi A, Castilla EE, Martínez-Frías ML, Bermejo E, Marengo L, et al.. Gastroschisis and associated defects: an international study. Am J Med Genet A. 2007. PMID 17357116 · DOI
  9. Reefhuis J, Devine O, Friedman JM, Louik C, Honein MA, National Birth Defects Prevention Study. Specific SSRIs and birth defects: Bayesian analysis to interpret new data in the context of previous reports. BMJ. 2015. PMID 26156519 · DOI · PMC4496787
  10. Sadler TW. The embryologic origin of ventral body wall defects. Semin Pediatr Surg. 2010. PMID 20610194 · DOI

About this article

Sources
NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
Verification
Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
Review state
automated source verified; no human expert review has been recorded yet.
Version
1, last updated 2026-10-29.

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At a glance

1,678
PubMed records on this heading
23%
published since 2020
198
review articles
13
randomized trials
10
verified references below

Counts come from PubMed on 2026-10-29; they show how much has been written, not how strong the evidence is.

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