Preprint Article Version 1 This version is not peer-reviewed

Clinical Utility of Expanded Carrier Screening: Results-Guided Actionability and Outcomes

Version 1 : Received: 31 July 2018 / Approved: 1 August 2018 / Online: 1 August 2018 (12:07:35 CEST)

How to cite: Johansen Taber, K.; Beauchamp, K.A..; Lazarin, G..; Muzzey, D..; Arjunan, A..; Goldberg, J.D.. Clinical Utility of Expanded Carrier Screening: Results-Guided Actionability and Outcomes. Preprints 2018, 2018080020 (doi: 10.20944/preprints201808.0020.v1). Johansen Taber, K.; Beauchamp, K.A..; Lazarin, G..; Muzzey, D..; Arjunan, A..; Goldberg, J.D.. Clinical Utility of Expanded Carrier Screening: Results-Guided Actionability and Outcomes. Preprints 2018, 2018080020 (doi: 10.20944/preprints201808.0020.v1).

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

Subject Areas

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

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