Sažetak
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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