• Croatian medical journal · Jun 2024

    Pregnant couples' attitude toward extended pre-conceptional genomic screening.

    • Mojca Čižek Sajko, Bernarda Prosenc, Lovro Vidmar, Gordana Njenjić, Paula Duff, and Borut Peterlin.
    • Borut Peterlin, Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Šlajmerjeva 4, 1000 Ljubljana, Slovenia, borut.peterlin@kclj.si.
    • Croat. Med. J. 2024 Jun 13; 65 (3): 189197189-197.

    AimTo determine the attitudes of pregnant couples toward carrier screening genomic tests.MethodsA validated 22-item questionnaire was offered in person by medical staff to pregnant women ≥32 weeks' gestation and their partners attending prenatal classes from May to July 2014. The questionnaire inquired about demographic data, interest in various forms of genetic carrier screening tests, and genetic literacy.ResultsOf 497 respondents, 69% expressed strong interest in carrier screening. The interested respondents exhibited substantial support for screening for common (82%) or all known genetic diseases (79%), as well as for treatable (79%) and untreatable diseases (85%). The majority of respondents believed that genetic test results could provide them with a sense of security but also provoke anxiety and fear. They were aware that these results could affect their perspective on life, work, and the atmosphere within their family, and acknowledged the potential effect on their relationship with their partner. However, none of these concerns diminished their desire to learn about their carrier status. Respondents with higher genetic literacy exhibited greater interest in screening tests (P=0.006). More non-religious respondents compared with practicing religious respondents (P=0.002), and more respondents with higher education compared with those with lower education, expressed interest in screening (P=0.003).ConclusionMost respondents expressed considerable interest in receiving information about their carrier status through genetic tests.

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