Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with congenital gastrointestinal obstruction.

ABSTRACT:

Background

Congenital gastrointestinal obstruction (CGIO) mainly refers to the stenosis or atresia of any part from the esophagus to the anus and is one of the most common surgical causes in the neonatal period. The concept of genetic factors as an etiology of CGIO has been accepted, but investigations about CGIO have mainly focused on aneuploidy, and the focus has been on duodenal obstruction. The objective of this study was to evaluate the risk of chromosome aberrations (including numeric and structural aberrations) in different types of CGIO. A second objective was to assess the risk of abnormal CNVs detected by copy number variation sequencing (CNV-seq) in fetuses with different types of CGIO.

Methods

Data from pregnancies referred for invasive testing and CNV-seq due to

SUBMITTER: Meng X 

PROVIDER: S-EPMC8772214 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature