土耳其男性对SMA携带者阳性结果的经验:在性别查框架内的定性研究
1Department of Family Medicine, Faculty of Medicine, Erzincan Binali Yıldırım University, Erzincan, 24100, Turkey. ersan.gursoy@erzincan.edu.tr.
BMC public health
|October 23, 2025
概括
土耳其男性接受阳性脊髓肌缩 (SMA) 载体结果,特别是当伴侣是负面的,经历显著的情绪痛苦和困惑. 改进的,文化敏感的遗传咨询对于支持他们的生殖决策至关重要.
科学领域:
- 遗传学和遗传咨询 遗传学和遗传咨询
- 公共卫生倡议 公共卫生倡议
- 卫生社会学 卫生社会学
背景情况:
- 脊柱肌缩 (SMA) 携带者查自2021年以来被整合到土耳其的婚前/产前计划中.
- 查算法最初测试男性,对男性携带者对积极结果的反应的理解有限,当伴侣是负面的.
- 土耳其的社会文化背景影响了男性携带者对遗传结果的解释.
研究的目的:
- 定性地探索土耳其男性的情绪,认知和人际反应,以积极的SMA载体结果.
- 确定目前对男性携带者SMA查实践中的未满足需求.
- 了解在土耳其社会文化框架内SMA携带者阳性结果的影响.
主要方法:
- 针对11名男性参与者进行了有目的的抽样,SMA携带者结果呈阳性,Erzincan省的伴侣呈阴性.
- 在2024年11月至12月进行的深入,半结构化的电话采访.
- 采访数据的专题分析使用布劳恩和克拉克的框架,由NVivo 12软件支持.
主要成果:
- 参与者报告了强烈的情绪,由于遗传咨询不足而引起的困惑,以及依赖不可靠的在线信息.
- 披露决策受到耻辱和家庭期望的影响;医疗保健互动有所不同.
- 生殖决定包括推迟生育,考虑辅助生殖和提高遗传风险意识.
结论:
- 男性携带者面临着重大的心理社会负担,突出了遗传咨询和后续护理方面的差距.
- 建议提供无障碍,文化敏感和性别意识的遗传咨询 (远程遗传学,外展,初级保健培训).
- 解决这些需求可以改善土耳其的SMA查计划的伦理影响,并指导类似的全球倡议.
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