The Perspectives and Experiences of Prospective Parents Declining Diagnostic Prenatal Genome Sequencing in Continuing...

This study evaluates an understudied perspective: the experiences of prospective parents who decline prenatal genome sequencing (pGS) for continuing pregnancies with fetal structural anomalies.

We recruited a total cohort of 300 parents of 150 pregnancies who declined pGS, including 33 individuals who underwent an invasive procedure. These parents were invited to participate in a semi-structured interview between 1 and 15 months post-partum. We used Thematic Analysis to code and analyze interviews.

We interviewed 22 parents of 16 pregnancies. Reasons for declining testing included risks of invasive procedures (n = 19, 86%), lack of prenatally actionable findings (n = 17, 77%), unclear benefits of testing (n = 9, 41%), satisfaction with previous testing (n = 11, 50%), expected low diagnostic yield (n = 13, 59%), emotional and information overload (n = 11, 50%), intolerance of uncertainty (n = 13, 59%), and privacy concerns (n = 5, 23%). Most individuals indicated that, if available, they would elect non-invasive prenatal sequencing. Overall, participants were satisfied with their choice to decline pGS and had no regrets postnatally.

The reasons individuals declined pGS included medical and emotional risks of testing and an understanding of potential results and their utility. To address these concerns, pretest genetic counseling should include the probability of diagnostic results, impact of prenatal/perinatal management, consideration of uncertain results, privacy concerns, and benefits and limitations of postnatal testing. Non-invasive prenatal sequencing, currently under investigation in research settings, may be an alternative future option, but will not address all concerns. Given that our cohort was small and homogenous, lacked cost burden, excluded terminated pregnancies, and included no postnatal genetic diagnoses, further research is needed to confirm that these findings are generalizable.