The complex search for the cause of gastroschisis

Amanda Brasil de Freitas; Rossana Pulcineli Vieira Francisco; Mara Sandra Hoshida; Yanca Gasparini De Oliveira; Leslie Domenici Kulikowski; Maria de Lourdes Brizot

doi:10.1002/bdr2.2047

The complex search for the cause of gastroschisis

Birth Defects Res. 2022 Nov 15;114(19):1291-1297. doi: 10.1002/bdr2.2047. Epub 2022 May 16.

Authors

Amanda Brasil de Freitas^{1

2}, Rossana Pulcineli Vieira Francisco¹, Mara Sandra Hoshida³, Yanca Gasparini De Oliveira², Leslie Domenici Kulikowski², Maria de Lourdes Brizot¹

Affiliations

¹ Department of Obstetrics and Gynecology, Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil.
² Cytogenomic Laboratory, Department of Pathology, Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil.
³ Laboratory of Obstetric Physiology LIM57, Hospital das Clinicas, Universidade de Sao Paulo, Sao Paulo, Brazil.

PMID: 35574732
DOI: 10.1002/bdr2.2047

Abstract

Background: To reveal the complex etiology of gastroschisis through two independent cases.

Cases: Case 1 involves gastroschisis recurrence in a consanguineous marriage, and Case 2 concerns a fetus with gastroschisis whose mother had undergone gastroplasty. Methylation array was carried out in both cases (two fetuses with gastroschisis, their two mothers, one father from the consanguineous marriage), and in 16 controls (fetuses and their respective mothers).

Conclusion: The two cases presented different noninherited methylation profiles.

Keywords: gastroplasty; gastroschisis; methylation array; recurrence.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

DNA Methylation
Female
Fetus
Gastroschisis*
Humans
Male