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

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,… Click to show full abstract

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.

Keywords: cohort fetuses; diaphragmatic hernia; congenital diaphragmatic; number variations; copy number; fetuses newborns

Journal Title: Prenatal Diagnosis
Year Published: 2022

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