非侵入性产前检测的流行率值和积极预测值
Aditi Sivakumar1, Jacques Balayla2
1Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.
概括
非侵入性产前检测 (NIPT) 对查条件的积极预测值很低,因为它们的患病率低于计算的患病率值. 这表明NIPT的可靠性受到当前疾病频率的限制.
科学领域:
- 遗传学和基因组学 在
- 流行病学 流行病学
- 生殖健康 生殖健康
背景情况:
- 非侵入性产前检测 (NIPT) 已经扩大了可检测疾病的范围.
- 尽管扩大了查,但许多NIPT评估条件的患病率仍然稳定.
- 诊断测试的积极预测值受疾病流行程度的影响.
研究的目的:
- 计算通过NIPT选的常见疾病的流行率值.
- 将计算的流行率值与实际疾病流行率进行比较.
- 根据这些比较,评估NIPT结果的可靠性.
主要方法:
- 在六个数据库和PubMed (2010-2023) 中对NIPT敏感性和特异性数据进行系统的文献搜索.
- 使用预先衍生出的流行病学方程计算每个疾病的流行率值.
- 确定达到流行率值所需的理论测试代.
主要成果:
- 没有NIPT选的疾病达到或超过其计算的流行率值.
- 三合体21显示了流行率和值之间的最高一致性;安吉尔曼,Cri-du-chat和普拉德-威利综合征显示了最显著的不一致性.
- 大多数疾病,除了三胞胎瘤21和XXY外,需要多次测试代才能达到其患病率值.
结论:
- 对于所有测试条件,NIPT的积极预测值目前很低.
- 根据NIPT评估的疾病的患病率水平明显低于各自的患病率值.
- 由于查条件的流行率较低,NIPT的可靠性受到限制.
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