Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.

ABSTRACT:

Background

Preconception expanded carrier screening (ECS) is a genetic test that enables the identification of at-risk carriers of recessive disorders by screening for up to hundreds of genes. Next-generation sequencing (NGS) development has paved the way for its integration into ECS. This study aims to identify the carrier genetic status of couples experiencing or anticipating conception challenges through NGS-based ECS and to gain an overview of the rare genetic disorders in a population with increased consanguinity.

Methods

Thirty couples who presented to the Genetic Disease Clinic between 2015 and 2024 with failed reproductive outcomes or with a positive personal or family history of genetic disorders and underwent ECS were included and retrospectively analyzed.

Resul

SUBMITTER: Skrypnyk C 

PROVIDER: S-EPMC11490169 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature