Evaluating the efficacy of three carrier screening workflows designed to identify at-risk carrier couples.

ABSTRACT:

Objective

To evaluate the efficacy of three different carrier screening workflows designed to identify couples at risk for having offspring with autosomal recessive conditions.

Methods

Partner testing compliance, unnecessary testing, turnaround time, and ability to identify at-risk couples (ARCs) were measured across all three screening strategies (sequential, tandem, or tandem reflex).

Results

A total of 314,100 individuals who underwent carrier screening were analyzed. Sequential, tandem, and tandem reflex screening yielded compliance frequencies of 25.8%, 100%, and 95.9%, respectively. Among 14,595 couples tested in tandem, 42.2% of females were screen-negative, resulting in unnecessary testing of the male partner. In contrast, less than 1% of tandem reflex couples

SUBMITTER: Arjunan A 

PROVIDER: S-EPMC8248057 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature