THE VALUE OF NIPT COMBINED WITH SERUM CELL-FREE DNA, ESTRIOL, AFP, AND b-HCG LEVELS IN THE RECOGNITION OF TRISOMY 21 AND 18 IN THE SECOND TRIMESTER

JingLi  Fu; XiaoYan  Zhong; Dan  Li; YunSheng  Ge; XueQin  Zhang

doi:10.5937/jomb0-33027

JingLi Fu Women and Children’s Hospital, School of Medicine, Xiamen University
XiaoYan Zhong Women and Children’s Hospital, School of Medicine, Xiamen University
Dan Li Women and Children’s Hospital, School of Medicine, Xiamen University
YunSheng Ge Women and Children’s Hospital, School of Medicine, Xiamen University
XueQin Zhang Datong First People's Hospital

DOI: https://doi.org/10.5937/jomb0-33027

Keywords: Noninvasive prenatal testing from DNA (NIPT), Serum screening, Trisomy syndrome

Abstract

目的： 评价无创DNA产前检测（NIPT）和血清三联征筛查在胎儿21和18三体检测中的临床应用价值。方法：作为回顾性分析，我们收集了1383名接受血清筛查和筛查的单身妊娠妇女的资料。 2015年5月至2017年9月在我科进行无创DNA产前检测（NIPT），并计算两种方法的诊断价值。结果： 在 1383 例病例中，血清筛查对 21 三体和 18 三体的敏感性为 76.9%，特异性为 74.7%，PPV 为 2.9%，NPV 为 99.7%，AUC 为 0.758（95% CI：0.625-0.891）。DNA (NIPT) 无创产前检测对 21 三体和 18 三体的敏感性为 100%，特异性为 99.8%，PPV 为 81%，NPV 为 100%，AUC 为 0.999（95% CI：0.000-1.000）。结论：血清筛查能及时发现高危孕妇，但假阳性和假阴性发生率高；DNA无创产前检测（NIPT）的准确性高，可以有效降低缺陷婴儿的发生率。

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