Purpose: The clinical introduction of innovative prenatal genetic technologies challenges patients and providers to find new ways of fostering informed decision-making in a setting characterized by complexity and uncertainty. As prenatal genetic technology advances, important questions remain about how to structure patient-centered conversations that effectively prepare pregnant patients to make informed choices about the different genetic conditions for which this new form screening may be used.
Methods: Focus groups were conducted with 23 pregnant women to identify informational needs and decision-making preferences regarding emerging and anticipated applications of cell-free fetal DNA screening, the newest form of prenatal genetic screening.
Results: Participants were in favor of obtaining more genetic information about the fetus than provided by conventional screens but acknowledged the challenges inherent in navigating the unique complexities of the decision-making process. The provider-patient relationship was seen as an important resource to navigate the associated uncertainties at each stage of the screening process. Participants emphasized the need for initiatives to support a personalized, accurate, and unbiased discussion about prenatal genetic risk and assessment.
Conclusion: Continued advances in prenatal genetic screening call for new approaches to structure patient-centered communication to facilitate increasingly complex decisions about fetal genetic risk and assessment.
Keywords: cell-free fetal DNA screening; informed decision-making; obstetric care; patient experience; patient–provider communication.