The importance of the trisomy 21 local cutoff value evaluation for prenatal screening in the second trimester of pregnancy.

Laboratory medicine Pub Date : 2023-11-02 DOI:10.1093/labmed/lmad015

Chen Yiming, Yijie Chen, Long Sun, Liyao Li, Wenwen Ning

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Abstract

Objective: The aim of this work was to compare different local cutoff values (LCV) and inline cutoff values (ICV) in pregnant women in the second trimester at high risk for carrying fetuses with trisomy 21.

Methods: This retrospective cohort study analyzed prenatal screening outcomes in pregnant women (n = 311,561). The receiver operating characteristic curve was used to evaluate the diagnostic significance of the trisomy 21 risk value, alpha-fetoprotein, and free beta human chorionic gonadotropin multiple of the median for predicting trisomy 21 risk. The cutoff value corresponding to the maximal Youden index was taken as the LCV. The screening efficiency of both cutoff values was compared.

Results: The LCV cutoff value was lower than the ICV cutoff value (1/643 vs 1/270). The sensitivity increased by 19.80%, the positive predictive value decreased by 0.20%, and the false-positive rate increased by 6.50%.

Conclusion: The LCV should be used to determine trisomy 21 risk, which can increase the detection rate of trisomy 21 in the second trimester.

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21三体局部临界值评估在妊娠中期产前筛查中的重要性。

目的：这项工作的目的是比较妊娠中期携带21三体胎儿的高危孕妇的不同局部截断值（LCV）和内联截断值（ICV）。方法：这项回顾性队列研究分析了孕妇（n=311561）的产前筛查结果。受试者操作特征曲线用于评估21三体风险值、甲胎蛋白和游离β-人绒毛膜促性腺激素中位数倍数对预测21三体风险的诊断意义。取与最大尤登指数相对应的临界值作为LCV。比较了两个临界值的筛选效率。结果：LCV临界值低于ICV临界值（1/643 vs 1/270）。敏感性提高了19.80%，阳性预测值降低了0.20%，假阳性率提高了6.50%。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Laboratory medicine

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