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

Autor: Johansen Taber KA; Counsyl, Inc., South San Francisco, CA, USA. research@counsyl.com., Beauchamp KA; Counsyl, Inc., South San Francisco, CA, USA., Lazarin GA; Counsyl, Inc., South San Francisco, CA, USA., Muzzey D; Counsyl, Inc., South San Francisco, CA, USA., Arjunan A; Counsyl, Inc., South San Francisco, CA, USA., Goldberg JD; Counsyl, Inc., South San Francisco, CA, USA.
Jazyk: angličtina
Zdroj: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 May; Vol. 21 (5), pp. 1041-1048. Date of Electronic Publication: 2018 Oct 11.
DOI: 10.1038/s41436-018-0321-0
Abstrakt: 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.
Databáze: MEDLINE
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