Fetal gastroschisis: epigenetic profile study

Abstract

Gastroschisis is a congenital malformation characterized by a defect in the closure of the abdominal wall, with evisceration of abdominal organs (mainly of the intestine) by a small opening located laterally to the umbilical cord. Although the survival of newborns with gastroschisis is around 90%, morbidity is still high with long periods of hospitalization. In the last decades, gastroschisis has found an epidemiological situation of a pandemic and strongly associated with the low maternal age, that does not seem to be secondary to a single treatment or genetic predisposition, but can be associated to multifactorial processes involving a genetic interaction. Hypotheses of etiology and pathogenesis, as well as the association with environmental factors and attempts to identify a biological marker have not yet been successful, making it necessary to search for new approaches to analysis. Therefore, this project aims to build a DNA methylation profile of the genomic DNA in 32 fetuses with gastroschisis and in 16 fetuses without malformation/ control group (and in their respective mothers in both groups). This project also intends to determine the copy number variations (CNVs) of the genome in 32 fetuses with gastroschisis. The data obtained will be related among the different groups and also with maternal information - associated with demographic, social, personal and obstetric data, as well as life and nutrition habits, obtained in a previous study. With the results, we hope to find significant differences that may help us to suggest an etiology of gastroschisis, or a relation of this disease with environmental factors. (AU)