METHODS: Six databases and PubMed were searched from January 2010 to March 2023 for sensitivity and specificity parameters of common conditions tested through NIPT. Using an equation previously derived by the authors of the current paper, the prevalence threshold for each condition was calculated. The theoretical number of test iterations required to reach the prevalence threshold was also reported.
RESULTS: None of the conditions tested through the NIPT had a prevalence rate that met or exceeded the calculated prevalence threshold. Trisomy 21 had the greatest concordance between the prevalence rate and the prevalence threshold. In contrast, Angelman, Cri-du-chat, and Prader-Willi syndromes had the most significant discordance. Apart from trisomy 21 and XXY, all remaining conditions required more than one test iteration to reach their respective prevalence threshold.
CONCLUSIONS: We conclude that at the current prevalence levels, the positive predictive value of NIPT remains low, with the prevalence of disease levels significantly lower than the prevalence threshold for each condition tested.
方法:从2010年1月至2023年3月,在六个数据库和PubMed中搜索了通过NIPT测试的常见条件的敏感性和特异性参数。使用本文作者先前推导的方程,计算每种情况的患病率阈值.还报告了达到流行阈值所需的理论测试迭代次数。
结果:通过NIPT测试的所有条件的患病率均未达到或超过计算的患病率阈值。21三体在患病率和患病率阈值之间具有最大的一致性。相比之下,Angelman,Cri-du-chat,和Prader-Willi综合征有最显著的不一致。除了21三体和XXY,所有剩余条件需要多次测试迭代才能达到各自的患病率阈值.
结论:我们得出结论,在目前的患病率水平下,NIPT的阳性预测值仍然很低,在每个测试条件下,疾病水平的患病率显着低于患病率阈值。