无创产前基因检测联合超声在唐氏综合征筛查中的优势分析

Analysis of the Advantages of non-invasive prenatal Genetic Testing combined with Ultrasound in Down Syndrome Screening

目的探讨无创产前基因检测联合超声在唐氏综合征(DS)产前筛查中的临床价值。方法收集2018年2月至2019年12月本院自然妊娠单胎孕妇2 050例,比较超声和无创产前基因检测联合超声两种检查方法在DS产前筛查中的阴性预测值、阳性预测值、灵敏度、特异度和准确率。结果与超声比较,无创产前基因检测联合超声的阳性预测值、灵敏度、特异度和准确率更高(P <0.05)。结论无创产前基因检测和超声检查均为孕早期DS筛查的重要手段,二者联合应用能增加DS筛查的准确率。

Objective To explore the clinical value of noninvasive prenatal genetic testing combined with ultrasound in Down syndrome prenatal screening.Methods From February 2018 to December 2019,2050 cases of single pregnancy in our hospital were collected to compare the negative predictive value,positive predictive value,sensitivity,specificity and accuracy of ultrasound and non-invasive prenatal genetic testing combined with ultrasound in the prenatal screening of DS.Results Compared with ultrasound,non-invasive prenatal gene testing combined with ultrasound has higher positive predictive value,sensitivity,specificity and accuracy(P<0.05).Conclusion Non-invasive prenatal gene testing and ultrasound examination are important means of early pregnancy DS screening,the combination of the two can increase the accuracy of DS screening.