"It's an Uphill Battle. We Have a Long Way to Go": Perspectives of Canadian Individuals Living with Genetic Conditions Detectable by Prenatal Cell-Free DNA Screening.

Abstract

Background: In Canada, prenatal cell-free DNA screening is mainly used as a second-tier screening test that targets specific aneuploidies, namely trisomy 21, 18 and 13.

Methods: Within the PEGASUS-2 study, we conducted in-depth interviews with 11 individuals living with a genetic condition currently or potentially detectable by this screening method, to explore their opinions regarding its potential implementation as a first-tier test, and the expansion of its scope.

Results: Qualitative analysis revealed that, although some individuals appreciated an early result with the test, they generally considered prenatal screening to be a predetermined route to termination of pregnancy. Participants felt that this social expectation reflects negative attitudes toward people who are genetically different. They feared that a more accessible and expanded test would accentuate the slippery slope toward eugenic tendencies in society. Thus, broadening its scope could be beneficial only in the case of conditions deemed severe on the basis of viability and quality of life criteria. While parents of children living with Down syndrome were reluctant to support screening, based on their challenging but rewarding experiences, people living with sex chromosome anomalies (SCAs) were supportive of its use to detect SCAs, to enable better prenatal preparation. All felt that screening should be accompanied by better, balanced, and more transparent information, to ensure it is a tool that promotes reproductive autonomy. Additional findings include a recurring comparison between Down syndrome and autism spectrum disorder regarding the future provision of prenatal screening, the use of "battle" metaphors to describe the prenatal journey, and reflections on the role of adoption as an alternative to termination.

Conclusion: These perspectives, informed by lived experiences, should inform recommendations on the implementation of prenatal screening in Canada.