Turkish men's experiences of positive SMA carrier results: a qualitative study within a gendered screening framework

Spinal muscular atrophy (SMA) carrier screening has been part of Türkiye's premarital and prenatal program since 2021, using a stepwise algorithm that first tests men. Little is known about how male carriers interpret a positive result-particularly when their partners test negative-within the country's sociocultural context. This study qualitatively explored Turkish men's emotional, cognitive, and interpersonal responses to a positive SMA carrier result to illuminate needs that current screening practices may overlook.

Eleven male participants who had received a positive SMA carrier result while their partners tested negative were recruited through purposive sampling from official health records in Erzincan Province. Data were collected via in-depth, semi-structured interviews conducted by telephone between November and December 2024. Interviews explored emotional responses, information-seeking behaviour, reproductive decision-making, and communication with healthcare professionals. All interviews were audio-recorded, transcribed verbatim, and analysed thematically using Braun and Clarke's six-phase framework, supported by NVivo 12 software.

Participants described intense, sometimes overwhelming emotions; widespread confusion stemming from scarce or inconsistent genetic counselling; and a heavy reliance on internet and social-media sources that often intensified fear. Disclosure decisions were shaped by stigma concerns and extended-family expectations, while interactions with healthcare professionals ranged from reassuring to dismissive. Many men postponed or reconsidered childbearing, weighed assisted-reproduction options, and ultimately reported greater awareness of genetic risk-some becoming advocates for broader screening. Across accounts, carrier status was framed not as a purely biomedical label but as a socially embedded responsibility compounded by the gendered design of the screening algorithm.

Findings highlight the psychosocial burden placed on male carriers and point to gaps in counselling and follow-up care. Integrating accessible, culturally sensitive, and gender-aware genetic counselling-through tele-genetics, community outreach, and primary-care training-could mitigate distress and support informed reproductive choices. Addressing these needs would strengthen the ethical and practical impact of Türkiye's SMA screening program and offer guidance for similar initiatives elsewhere.