在日本产前遗传测试的20年趋势
Aiko Sasaki1, Takahiro Yamada2, Haruhiko Sago1,3
1Center for Maternal-Fetal, Neonatal and Reproductive Medicine/Center for Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
Journal of human genetics
|March 1, 2026
概括
在日本,产前遗传检测显示,传统方法 (如母体血清查和羊水切割) 的使用正在下降,超声波查的使用也在增加. 这一转变受到非侵入性产前检测 (NIPT) 和不断变化的生殖选择的影响.
科学领域:
- 生殖医学和遗传学
- 临床诊断和实验室医学
背景情况:
- 在日本,产前遗传测试在过去二十年里取得了显著的进化.
- 孕产妇血清查 (MSS),羊膜切割 (AC) 和胆取样 (CVS) 是检测胎儿染色体异常的主要方法.
- 最近,非侵入性产前检测 (NIPT) 已成为临床决策中的一个变革性工具.
研究的目的:
- 评估日本产前遗传检测的现状和趋势.
- 在NIPT的兴起之际,更新传统产前检测方法的国家数据.
- 分析人口变化和新测试技术对产前查实践的影响.
主要方法:
- 来自五个主要的大批量实验室分析产前遗传测试 (2020-2023) 的综合测试量数据.
- 进行了一项基于问卷的全国性补充调查,针对仅超声波 (美国) 查.
- 分析了MSS,AC,CVS和仅在美国的查量和检测率的趋势.
主要成果:
- 在MSS (2018年的34,887到2023年的25,553),AC (2014年的16,454到2023年的5620) 和CVS (2015年的2149到2023年的1167) 卷中观察到显著下降.
- 仅用超声波查的情况略有增加,每年超过1万例.
- 在AC病例中,染色体异常检测率在2023年增加到20.0%,其中三发症21是最常见的 (43.6%).
- 年龄≥35岁的母亲比例增加 (2003年14.0%至2023年30.4%),而全国活产人数减少了35.3%.
结论:
- 传统产前检测量下降受到NIPT的采用,风险分层的改善和生殖决策的发展的影响.
- 仅仅是人口变化并不能解释观察到的传统测试方法的减少.
- 这项研究为日本未来的产前遗传测试政策和实践提供了必要的数据.
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