在产前查计划中对唐氏综合征进行非侵入性产前检测 (NIPT) 的实施和影响:系统审查和元分析
Elinor Sebire1, Chithramali Hasanthika Rodrigo1, Sohinee Bhattacharya1
1Institute of Applied Health Sciences, School of Medicine, Medical Sciences and Nutrition, The University of Aberdeen, Aberdeen, Scotland.
PloS one
|May 16, 2024
概括
在27个国家采用非侵入性产前检测 (NIPT) 进行唐氏综合征查. 虽然NIPT减少了侵入性诊断测试,但它对怀孕结果的全部影响需要更多的数据.
科学领域:
- 孕产妇和胎儿的医学
- 遗传学 遗传学 是一个
- 公共卫生政策 公共卫生政策
背景情况:
- 非侵入性产前检测 (NIPT) 分析来自母亲血液的胎儿DNA,以选像唐氏综合征 (DS) 这样的染色体异常.
- 由于NIPT的广泛采用,因此需要对其实施,采用和对妊娠管理决策的影响进行持续评估.
研究的目的:
- 系统地审查NIPT在DS国家查计划中的全球实施情况.
- 评估NIPT的吸收率及其对侵入性产前诊断 (IPD) 率和怀孕结果的影响.
主要方法:
- 从2010年开始,系统地搜索数据库 (MEDLINE,CINAHL,Scopus,Embase) 的基于人口的研究,指南和公共卫生文件.
- 分析以确定在NIPT引入之前和之后选择IPD的女性的整体比例.
- 在NIPT识别高概率DS怀孕后,对怀孕结果 (终止率,活产) 的元分析.
主要成果:
- 至少27个国家已经实施了NIPT,其二线NIPT的采用率从20.4%到93.2%.
- 在NIPT之后,在高概率的生化查结果之后,选择IPD的女性比例下降了38% (从75%降至43%).
- 在高概率的NIPT怀孕中,69%导致终止,8%导致婴儿与DS的活产.
结论:
- 全球都接受NIPT,但根据医疗保健系统,现有做法和文化因素而有所不同.
- 实施NIPT已经减少了侵入性诊断程序.
- 对NIPT的长期影响的全面评估受到NIPT前数据不足的限制,这凸显了透明报告的必要性.
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