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

Prenatal Genetics
  • Primary Categories:
    • Prenatal Genetics
  • Secondary Categories:
    • Prenatal Genetics
Introduction:
 
Multiple screening modalities have been made available to pregnant patients over the course of the last 30 years as technology for sampling and screening has improved. The current standard of care is to offer carrier screening to all pregnant women. However, fathers often do not opt for carrier screening even after the mother has tested positive, presenting a significant barrier to prenatal diagnosis of autosomal recessive conditions. Nationally, the rate of partners accepting carrier screening has been reported as ranging between 20-40 percent, with fewer than half pursuing screening when offered at this institution. Limited studies of pregnant patients have speculated that paternal insurance coverage, maternal insurance, and relationship status are the most likely barriers to partner screening. To date, no studies have directly solicited this information from fathers themselves. We sought to determine the factors that influence the decision of male partners to accept or decline genetic carrier screening.


 


 


 



Methods:
 
All partners of patients who underwent carrier screening between June and August 2024 and were carriers for at least one genetic disease were identified and recruited via secure text message or in person. Each participant was provided a unique, deidentified survey link and asked to complete the questionnaire. Basic demographic information regarding age, ethnicity, education level, and insurance status was collected using self-reporting measures. To incentivize participation, respondents who opted in were entered into a raffle for one of three Amazon gift cards. Data collected was subsequently analyzed using descriptive statistics.


 


 


 



Results:
 
39 of 62 respondents (62.9%) had undergone partner carrier screening, and of these respondents, 37 of 39 (94.8%) felt they had been given sufficient information about genetic testing. Most respondents felt that genetic testing was of personal importance to them (55/62, 89%) or to their partner (29/62, 47%). 59 of 62 (95.2%) respondents had completed high school or higher education.

Every person who declined carrier screening reported that it was not covered by their insurance, and 18 of 62 (29.0%) respondents found the cost prohibitive. More financial barriers were reported by those privately insured (9/62, 14.5%) compared with Medicaid (4/62, 6.5%). Most respondents who accepted carrier screening (28/39, 71.8%) had full insurance coverage.

 


 


 


 



Conclusion:
There are multiple barriers to paternal acceptance of partner carrier screening following positive results during pregnancy. Most partners (94.8%) feel they have a sufficient amount of information about genetic testing and its purpose. However, this remains a cost-prohibitive option preventing families from benefiting from the full extent of prenatal testing—42% of partners who did not complete testing identified cost as a limiting factor. Further investigation is needed to characterize the nature of insurance-related barriers to parental carrier screening, and best assist families in accessing this care during pregnancy.


 


 


 



Agenda

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