Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies.

ABSTRACT:

Background

Birth defects are responsible for approximately 7% of neonatal deaths worldwide by World Health Organization in 2004. Many methods have been utilized for examining the congenital anomalies in fetuses. This study aims to investigate the efficiency of simultaneous CNV-seq and whole-exome sequencing (WES) in the diagnosis of fetal anomaly based on a large Chinese cohort.

Methods

In this cohort study, 1800 pregnant women with singleton fetus in Hubei Province were recruited from 2018 to 2020 for prenatal ultrasonic screening. Those with fetal structural anomalies were transferred to the Maternal and Child Health Hospital of Hubei Province through a referral network in Hubei, China. After multidisciplinary consultation and decision on fetal outcome, products of concept

SUBMITTER: Chen X 

PROVIDER: S-EPMC8722033 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature