Paternal expanded carrier screening after positive maternal results: Perceptions and barriers to screening

Prenatal diagnosis of autosomal recessive conditions is limited by the low rate of patient partners accepting carrier screening. Previous studies have examined potential barriers to acceptance, but few have directly solicited this information from non-pregnant partners themselves. In this study, partners of the 268 individuals who underwent carrier screening between June and August 2024 and were carriers for at least one genetic disease were identified. Of these, the 152 partners who presented to the ultrasound office in person were considered eligible participants and were approached to participate in a survey about paternal decision making. Respondents were offered entry into a gift card raffle to incentivize participation. Ultimately, 76 participants (50% of those approached; 28% of eligible respondents) completed a survey to determine factors that influence the decision of male partners to accept or decline genetic carrier screening. The factors most strongly associated with pursuing screening were preference of the pregnant partner (p < 0.01), having prior experience with carrier screening (p < 0.01), and belief in the importance of carrier screening (p = 0.01). Respondents who did not view carrier screening as important were more likely to decline (p = 0.03). Relationship status and age were not significant influencers (p = 0.20, p = 0.6). Participants without insurance coverage were more likely to forego screening (p = 0.01); however, cost as a reported barrier was not statistically significant (p = 0.10). Among respondents in our population, paternal uptake of carrier screening following a positive maternal result depends more on personal attitudes toward genetic screening rather than on logistical barriers such as cost. Pregnant individuals may be able to influence partners' decisions to complete screening, regardless of relationship status. These findings suggest that clinician-driven early education-ideally pre-conception or early in pregnancy-tailored toward both patients and their partners may improve partner uptake of carrier screening.