Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

ABSTRACT:

Background

Expanded carrier screening (ECS) has emerged as an effective approach to identify at-risk couples (ARCs)-before they initiate attempts at reproduction-who possess a high probability of having a child affected by severe recessive diseases. The objective of this study was to evaluate the clinical utility of ECS in Chinese patients seeking the help of assisted reproductive technology (ART).

Methods

An ECS test, which covers 201 genes implicated in 135 recessive (autosomal or X-linked) diseases, was routinely offered to all ART patients in a single genetics and in vitro fertilization clinic. Additional options for preimplantation or prenatal genetic diagnosis were discussed and offered to all ARCs. All ECS results were aggregated and the clinical decisions of the ARCs

SUBMITTER: Xi Y 

PROVIDER: S-EPMC7507411 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature