Literature DB >> 29335896

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

Victor M Salinas-Torres1, Rafael A Salinas-Torres2, Ricardo M Cerda-Flores3, Laura E Martínez-de-Villarreal4.   

Abstract

PURPOSE: 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.
METHODS: 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.
RESULTS: 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).
CONCLUSION: 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.

Entities:  

Keywords:  Familial; Gastroschisis; Genetics; Inheritance; Population based

Mesh:

Year:  2018        PMID: 29335896     DOI: 10.1007/s00383-018-4224-6

Source DB:  PubMed          Journal:  Pediatr Surg Int        ISSN: 0179-0358            Impact factor:   1.827


  16 in total

Review 1.  Familial recurrence of gastroschisis: literature review and data from the population-based birth registry "Mainz Model".

Authors:  Michael Kohl; Avi Wiesel; Felix Schier
Journal:  J Pediatr Surg       Date:  2010-09       Impact factor: 2.545

2.  Increasing Prevalence of Gastroschisis--14 States, 1995-2012.

Authors:  Abbey M Jones; Jennifer Isenburg; Jason L Salemi; Kathryn E Arnold; Cara T Mai; Deepa Aggarwal; William Arias; Gerard E Carrino; Emily Ferrell; Olakunle Folorunso; Brendan Ibe; Russell S Kirby; Heidi R Krapfl; Lisa K Marengo; Bridget S Mosley; Amy E Nance; Paul A Romitti; Joseph Spadafino; Jennifer Stock; Margaret A Honein
Journal:  MMWR Morb Mortal Wkly Rep       Date:  2016-01-22       Impact factor: 17.586

3.  Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis.

Authors:  Claudine P Torfs; Roberta E Christianson; David M Iovannisci; Gary M Shaw; Edward J Lammer
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2006-10

4.  Evaluation of familial factors in a Mexican population-based setting with gastroschisis: Further evidence for an underlying genetic susceptibility.

Authors:  Victor M Salinas-Torres; Rafael A Salinas-Torres; Ricardo M Cerda-Flores; Laura E Martínez-de-Villarreal
Journal:  J Pediatr Surg       Date:  2017-09-01       Impact factor: 2.545

5.  Epidemiological study of gastroschisis and omphalocele in Spain.

Authors:  M L Martínez-Frías; J Salvador; L Prieto; J Zaplana
Journal:  Teratology       Date:  1984-06

6.  A cluster study of gastroschisis: single center experience.

Authors:  Shilpi Chabra; Bryan D Hall
Journal:  J Ky Med Assoc       Date:  2008-08

7.  Omphalocele and gastroschisis: an 18-year review study.

Authors:  Pei-Jen Hwang; Boris G Kousseff
Journal:  Genet Med       Date:  2004 Jul-Aug       Impact factor: 8.822

8.  Omphalocele and gastroschisis: a collaborative study of five Italian congenital malformation registries.

Authors:  E Calzolari; S Volpato; F Bianchi; D Cianciulli; R Tenconi; M Clementi; A Calabro; S Lungarotti; P P Mastroiacovo; L Botto
Journal:  Teratology       Date:  1993-01

9.  Catamnestic investigations in children with malformations of the gastrointestinal tract and the abdominal wall.

Authors:  T Angerpointner; W Radtke; J D Murken
Journal:  Z Kinderchir       Date:  1981-02

10.  Gene variants as risk factors for gastroschisis.

Authors:  Amy M Padula; Wei Yang; Kathleen Schultz; Lauren Tom; Bin Lin; Suzan L Carmichael; Edward J Lammer; Gary M Shaw
Journal:  Am J Med Genet A       Date:  2016-09-12       Impact factor: 2.802

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  5 in total

Review 1.  A clinical-pathogenetic approach on associated anomalies and chromosomal defects supports novel candidate critical regions and genes for gastroschisis.

Authors:  Victor M Salinas-Torres; Rafael A Salinas-Torres; Ricardo M Cerda-Flores; Hugo L Gallardo-Blanco; Laura E Martínez-de-Villarreal
Journal:  Pediatr Surg Int       Date:  2018-08-09       Impact factor: 1.827

Review 2.  Genetic variants conferring susceptibility to gastroschisis: a phenomenon restricted to the interaction with the environment?

Authors:  Victor M Salinas-Torres; Rafael A Salinas-Torres; Ricardo M Cerda-Flores; Laura E Martínez-de-Villarreal
Journal:  Pediatr Surg Int       Date:  2018-03-17       Impact factor: 1.827

3.  Bioinformatic Analysis of Gene Variants from Gastroschisis Recurrence Identifies Multiple Novel Pathogenetic Pathways: Implication for the Closure of the Ventral Body Wall.

Authors:  Víctor M Salinas-Torres; Hugo L Gallardo-Blanco; Rafael A Salinas-Torres; Ricardo M Cerda-Flores; José J Lugo-Trampe; Daniel Z Villarreal-Martínez; Laura E Martínez de Villarreal
Journal:  Int J Mol Sci       Date:  2019-05-09       Impact factor: 5.923

4.  Whole exome sequencing identifies multiple novel candidate genes in familial gastroschisis.

Authors:  Víctor M Salinas-Torres; Hugo L Gallardo-Blanco; Rafael A Salinas-Torres; Ricardo M Cerda-Flores; José J Lugo-Trampe; Daniel Z Villarreal-Martínez; Marisol Ibarra-Ramírez; Laura E Martínez de Villarreal
Journal:  Mol Genet Genomic Med       Date:  2020-03-12       Impact factor: 2.183

Review 5.  New clues to understand gastroschisis. Embryology, pathogenesis and epidemiology.

Authors:  Lilian Chuaire Noack
Journal:  Colomb Med (Cali)       Date:  2021-09-30
  5 in total

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