在接受模拟预孕多基因风险评分 (PRS) 以计划生育为目的后,患者的观点
Maria Katz1, Noor Siddiqui1, Barry Behr2
1Orchid, 4022 Stirrup Creek Dr, Ste 312, Durham, NC, 27703, USA.
Journal of assisted reproduction and genetics
|February 11, 2025
概括
患者对多原性疾病的植入前遗传检测 (PGT-P) 具有很高的支持,以减少胚胎中常见疾病的风险. 个性化咨询对于理解PGT-P在IVF中的结果至关重要.
科学领域:
- 生殖遗传学 生殖遗传学
- 医学伦理学医学伦理学
- 遗传咨询 遗传咨询 遗传咨询
背景情况:
- 植入前多原性疾病遗传检测 (PGT-P) 允许根据多原性风险得分 (PRS) 进行胚胎选择.
- 患者对PGT-P的观点对于临床实施和指导方针的制定至关重要.
- 了解患者对PRS的态度对于常见的多遗传性疾病对于生殖医学至关重要.
研究的目的:
- 评估患者对使用PGT-P来选择具有较低常见多基因疾病风险的胚胎的观点.
- 评估参与者接受模拟胚胎PRS后的理解和态度.
- 探索患者对各种成人和儿童发病情况的查的兴趣.
主要方法:
- 被招募的伴侣接受妇产科医生或REI护理,对遗传风险感兴趣.
- 利用一个工具从父母的DNA中生成模拟胚胎PRS,用于11种条件.
- 收集了来自90名参与者的反,通过咨询后的调查和在线审查结果.
主要成果:
- 对PGT-P查的高度支持,特别是在儿童发病 (80%) 和成人发病的认知障碍 (精神分裂症86%,阿尔茨海默氏症82%).
- 个性化咨询被认为很重要;非欧洲血统的参与者注意到PRS适用性的局限性.
- 焦虑 (5%) 和遗憾 (2%) 等负面反应是最小的,并进行了探索.
结论:
- 患者对胚胎优先级的PGT-P的支持很高,与其他美国研究一致.
- 与PRS显著的临床医生不适需要全面的遗传咨询.
- 包容性利益相关者的投入对于制定用于IVF中的PRS使用指南至关重要.
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