Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants

Volume: 22, Issue: 3, Pages: 646 - 653
Published: Mar 1, 2020
Abstract
Expanded preconception carrier screening (ECS) identifies at-risk couples (ARCs) for multiple diseases. ECS reports currently include only pathogenic/likely pathogenic variants (P/LPVs). Variants of unknown significance (VUS) are not reported, unlike genomic or chromosomal array test results in other post/prenatal settings. Couples who are P/LP and VUS carriers (P/LP*VUS) may be at risk, particularly in genes with high P/LP carrier rates. We...
Paper Details
Title
Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants
Published Date
Mar 1, 2020
Volume
22
Issue
3
Pages
646 - 653
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