从创新到实践:评估植入前遗传测试的证据
Sarah Lensen1, Marcelle I Cedars2, Sebastiaan Mastenbroek3
1Department of Obstetrics, Gynaecology and Newborn Health, University of Melbourne, Royal Women's Hospital, Melbourne, Australia.
Fertility and sterility
|October 17, 2025
概括
前植入基因测试 (PGT-A) 已经有了显著的进化,但缺乏足够的证据来广泛使用. 目前的研究显示了方法上的缺陷,质疑了其临床的合理性,并导致丢弃了可行的胚胎.
科学领域:
- 生殖医学 生殖医学
- 遗传学 遗传学 是一个
- 胚胎学 胚胎学
背景情况:
- 在辅助生殖技术中,广泛使用的是前植入基因测试 (PGT-A).
- 它的采用速度超过了完整的证据基础的生成速度.
研究的目的:
- 审查PGT-A技术30年来的发展.
- 根据负责任发展的框架,评估PGT-A的进展.
- 评估目前支持PGT-A临床应用的证据.
主要方法:
- 从FISH到综合测序的PGT-A技术的历史回顾.
- 根据验证,预测性研究和RCT标准对PGT-A发展的评估.
- 对六项同期 PGT-A.的随机对照试验 (RCT) 的批判性评估.
主要成果:
- PGT-A的发展经常偏离了负责任的引入途径.
- 现代PGT-A在完成强大的试验之前进入临床实践.
- 当前RCT的方法缺陷包括缺乏动力的设计和有限的患者群体.
- 排除马赛克胚胎移植,阻碍了对结果的全面评估.
结论:
- 目前的证据基础并不证明PGT-A的广泛临床采用是合理的.
- PGT-A的过早实施导致了潜在的可活胚胎被丢弃.
- 需要进一步进行高质量的研究,以确定PGT-A的真正临床效用.
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