Genetic and Clinical Features of Heterotaxy in a Prenatal Cohort.

ABSTRACT: Objectives: Some genetic causes of heterotaxy have been identified in a small number of heterotaxy familial cases or animal models. However, knowledge on the genetic causes of heterotaxy in the fetal population remains scarce. Here, we aimed to investigate the clinical characteristics and genetic spectrum of a fetal cohort with heterotaxy. Methods: We retrospectively investigated all fetuses with a prenatal diagnosis of heterotaxy at a single center between October 2015 and November 2020. These cases were studied using the genetic testing data acquired from a combination of copy number variation sequencing (CNV-seq) and whole-exome sequencing (WES), and their clinical phenotypes were also reviewed. Result: A total of 72 fetuses diagnosed with heterotaxy and complete cl

SUBMITTER: Yi T 

PROVIDER: S-EPMC9061952 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature