Pediatric Surgery International

, Volume 34, Issue 3, pp 277–282 | Cite as

Familial occurrence of gastroschisis: a population-based overview on recurrence risk, sex-dependent influence, and geographical distribution

  • Victor M. Salinas-TorresEmail author
  • Rafael A. Salinas-Torres
  • Ricardo M. Cerda-Flores
  • Laura E. Martínez-de-Villarreal
Original Article



There is uncertainty over whether familial recurrences in gastroschisis might be higher. Moreover, scant information is available regarding its sociodemographic features. We aim to explore the recurrence risk, sex-dependent influence, and geographical distribution of familial gastroschisis.


A systematic review of the literature and data extraction from population-based studies published 1970–2017 (PubMed/MEDLINE) was independently performed by two reviewers. Familial ocurrence of gastroschisis, whereas sociodemographic features from 11 studies were pooled including 862 probands as a base. A descriptive analysis and Chi-square test were performed.


Twenty-four probands had a positive family history of gastroschisis including 49 affected family members, for a recurrence risk of 5.7 and 3% adjusted for proband. Siblings’ recurrence was 4.3%. Sex-dependent influence analysis (n = 879, from three studies) evidenced an increased susceptibility to gastroschisis in males (2.5%) compared to females (1.3%) adjusted for proband. Heterogeneity was identified by Fisher’s exact test (P = 0.023).


Our findings support a greater liability attributable to familial factors on gastroschisis along with significant information for family and prenatal counseling. We suggest that future studies should include for a more accurate account for both familial and environmental confounding factors to uncover relatives and environmental exposures that more limited family histories may have missed.


Familial Gastroschisis Genetics Inheritance Population based 


Compliance with ethical standards

Conflict of interest

The authors declared no potential conflicts of interest and received no financial support with respect to the research, authorship, and/or publication of this article.

Ethical approval

This article does not contain any studies with human participants or animals performed by any of the authors.

Informed consent

This article did not require formal ethical approval, similarly, no form of informed consent was required.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Departamento de Genética, Facultad de Medicina y Hospital Universitario José Eleuterio GonzálezUniversidad Autónoma de Nuevo LeónMonterreyMexico
  2. 2.Departamento de Sistemas y ComputaciónInstituto Tecnológico de TijuanaTijuanaMexico
  3. 3.Facultad de EnfermeríaUniversidad Autónoma de Nuevo LeónMonterreyMexico

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