Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China.

ABSTRACT: Recessive monogenic disorders represent a significant cause of congenital malformations and disabilities in pediatric populations. The present study aims to provide the first comprehensive assessment of clinical experience with expanded carrier screening (ECS) panels in a large cohort from the Jiangxi province of Southern Central China. An ECS panel encompassing 147 genes associated with 155 genetic disorders was initially performed on 5,104 pre-gestational/prenatal females using next-generation sequencing. Following the identification of autosomal recessive conditions in female partners, sequential genetic testing was offered to 1,351 male partners, which included either the same ECS panel or other appropriate genetic tests. Comprehensive reproductive counseling was provided to all the id

SUBMITTER: Pan L 

PROVIDER: S-EPMC12032240 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature