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. 2019 May;21(5):1041-1048.
doi: 10.1038/s41436-018-0321-0. Epub 2018 Oct 11.

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

Katherine A Johansen Taber  1 , Kyle A Beauchamp  2 , Gabriel A Lazarin  2 , Dale Muzzey  2 , Aishwarya Arjunan  2 , James D Goldberg  2
Affiliations

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

Katherine A Johansen Taber et al. Genet Med. 2019 May.

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, 37% elected prenatal diagnostic testing (PNDx) for that pregnancy. In subsequent pregnancies that occurred in both the preconception and prenatal screening groups, PNDx was pursued in 29%. The decision to decline PNDx was most frequently based on the fear of procedure-related miscarriage, as well as the belief that termination would not be pursued in the event of a positive diagnosis.

Conclusion: ECS results impacted couples' reproductive decision-making and led to altered pregnancy management that effectively eliminates the risk of having affected offspring.

Keywords: at-risk couple.; clinical utility; expanded carrier screening; pregnancy management; prenatal diagnosis.

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Figures

Fig. 1
Fig. 1
Survey flow. Survey questions were divided into five sections, denoted by color: foundational information such as condition(s) for which respondents were found to be carriers and pregnancy status at the time of receiving results (green); actions planned or pursued by those receiving expanded carrier screening (ECS) results before pregnancy (blue); actions pursued by those receiving ECS results during pregnancy (pink); actions pursued in subsequent pregnancies (yellow); and demographic information (gray).
See this image and copyright information in PMC

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