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Background <p>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.</p> Methods <p>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.</p> Results <p>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.</p> Conclusion <p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月23日

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  • Ersan Gürsoy,
  • Mert Yeğ

摘要

Background

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.

Methods

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.

Results

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.

Conclusion

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.