Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia.

ABSTRACT:

Objectives

The congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and lung hypoplasia, is a common and severe birth defect that affects around 1 in 4000 live births. However, the etiology of most cases of CDH remains unclear. The aim of this study was to perform a retrospective analysis of copy number variations (CNVs) using a high-resolution array comparative genomic hybridization (array-CGH) in a cohort of fetuses and newborns with CDH.

Methods

Forty seven fetuses and newborns with either isolated or syndromic CDH were analyzed by oligonucleotide-based array-CGH Agilent 180K technique.

Results

A mean of 10.2 CNVs was detected by proband with a total number of 480 CNVs identified based on five categories: benign, likely benign, of u

SUBMITTER: Boisson M 

PROVIDER: S-EPMC10100393 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature