摘要
目的:比较无创DNA产前检测技术与传统孕中期血清学筛查对唐氏综合征筛查临床效价。方法:2014年7月—2017年7月于本院行产前检查的孕妇2217例,在孕中期同时行传统血清学筛查和无创DNA产前检测,随访至孩子出生后42d,以随访结果为最后参照。比较不同筛查方法的检出率。结果:血清学筛查阳性41例(1.9%),无创DNA产前检测阳性19例(0.9%),随访染色体非整倍体异常21例(1.0%),血清学筛查阳性率高于随访结果(P<0.05),无创DNA产前检测阳性率与随访结果无差异(P>0.05);血清学筛查的阳性检出率为81.0%,假阳性率为58.5%,阳性预测率为41.5%,阴性预测率为99.8%,灵敏度为81.0%,特异度为98.9%;无创DNA产前检测技术的阳性检出率为90.4%,假阳性率为0,阳性预测率为100.0%,阴性预测率为99.9%,灵敏度为90.5%,特异度为100.0%。结论:在唐氏综合征筛查中,无创产前DNA检测技术较血清学筛查的准确性和特异度更高,具有更高的阳性检出率,降低了侵入性产前检查和误引产的概率,值得推广应用。
Objective:To compare the clinical application value between non-invasive DNA prenatal testing technology(NIPT)and traditional maternal serum screening(SS)for Down’s syndrome(DS)screening.Methods:2217 pregnant women who underwent prenatal examination were selected as subjects from July 2014 to July 2017.All of them were received maternal SS and NIPT for DS screening during the second trimester pregnancy.All included women were followed up to 42 days after delivery.The results were compared between the two screening methods.Results:41(1.85%)cases with DS high risk were found by SS,and 19(0.86%)cases with DS high risk were found by NIPT,and 21(0.95%)cases were confirmed with abnormal chromosome aneuploidy after delivery.The positive detection rate,the false positive rate,the positive predictive rate,the negative predictive rate,and the specificity of SS were 81.0%,58.5%,41.5%,99.8%,and 81.0%,and 98.9%,respectively.The positive detection rate,the false positive rate,the positive predictive rate,the negative predictive rate,and the specificity of NIPT were 90.5%,0.0%,100.0%,99.9%,90.5%,and 100.0%.Conclusion:As for DS screening,NTPT is more accurate and higher specificity with higher positive detection rate when compare to those of SS,which can reduce the probability of invasive prenatal examination and false labor,so it is worthy of promoting.
作者
赵兴
ZHAO Xing(Mingzhou Hospital of Zhejiang University,Ningbo,Zhejiang Province,315100)
出处
《中国计划生育学杂志》
2019年第6期786-788,共3页
Chinese Journal of Family Planning
关键词
唐氏综合征
无创DNA产前检测
血清学筛查
Down’s syndrome
Non-invasive DNA prenatal testing
Maternal serum screening
