Clinical utility of expanded carrier screening: results-guided actionability and outcomes.

ABSTRACT:

Purpose

Expanded carrier screening (ECS) informs couples of their risk of having offspring affected by certain genetic conditions. Limited data exists assessing the actions and reproductive outcomes of at-risk couples (ARCs). We describe the impact of ECS on planned and actual pregnancy management in the largest sample of ARCs studied to date.

Methods

Couples who elected ECS and were found to be at high risk of having a pregnancy affected by at least one of 176 genetic conditions were invited to complete a survey about their actions and pregnancy management.

Results

Three hundred ninety-one ARCs completed the survey. Among those screened before becoming pregnant, 77% planned or pursued actions to avoid having affected offspring. Among those screened during pregnancy,

SUBMITTER: Johansen Taber KA 

PROVIDER: S-EPMC6752268 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature