Women’s experiences with non-invasive prenatal testing in Switzerland: a qualitative analysis

Abstract

Background Prenatal genetic testing, in particular non-invasive prenatal testing (NIPT), as well as screening for risks associated with pregnancy, and counseling, play pivotal roles in reproductive healthcare, offering valuable information about the health of the fetus to expectant parents. This study aims to delve into the perspectives and experiences of women considering genetic testing and screening during pregnancy, focusing on their decision-making processes and the implications for informed consent. Methods A nationwide qualitative study was conducted in Switzerland, involving in-depth interviews with women who were 1 to 2 years post-partum, covered by basic compulsory Swiss insurance, including women with a migration background. Thematic analysis was employed to identify key themes and patterns in the data. Results The findings underscore the significance of effective communication during prenatal counseling, suggesting that healthcare providers could not only convey technical information but also support women in their decision-making processes. Women need comprehensive information about genetic testing and its implications, as well as the reasons for screening during pregnancy, as there might be a need to bridge knowledge gaps and clarify misconceptions. Furthermore, the study highlights the multifaceted nature of decision-making, with women considering factors such as uncertainty, values, emotional responses, and societal support systems. The concept of acceptance emerged as a crucial theme, with some women expressing their readiness to love and accept their child, regardless of genetic anomalies or disabilities. Conclusion This study offers valuable insights into the perspectives and needs of women regarding prenatal genetic testing, screening, and counseling in Switzerland. It underscores the importance of enhancing the clinical interaction and informed consent process by providing comprehensive information, addressing misconceptions, and supporting women in decision-making about pregnancy management and the management of the child’s health, following prenatal genetic testing, including NIPT. These findings can inform healthcare providers and policymakers in improving the quality of prenatal counseling, ensuring informed consent, and supporting women in making well-informed and meaningful decisions about genetic testing, and on the use of screening during pregnancy.

Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21

“…While the uptake of NIPT did increase slightly after its introduction, most women still declined prenatal testing 27 . The data gathered from this study as well as from studies in other countries clearly indicate that appropriate counseling is the key to achieving high levels of informed test‐choice decisions rather than the test itself 27–33 …”

“…27 The data gathered from this study as well as from studies in other countries clearly indicate that appropriate counseling is the key to achieving high levels of informed test-choice decisions rather than the test itself. [27][28][29][30][31][32][33] Another initial fear was that the introduction of NIPT would result in a drastic decrease in the livebirth prevalence of Down syndrome. A register study of the period 2014-2018, which included the start of NIPT as a first-tier test in 2017, concluded this was not the case.…”