无创DNA联合血清AFP、uE3及β-HCG检测在二胎高龄产妇产前筛查唐氏综合征的应用价值

Application Value of Non-Invasive DNA Combined with Serum AFP,uE3 And β-HCG Detection in Prenatal Screening of Down’s Syndrome of Second-Born Senile Women

目的探讨无创DNA联合血清AFP、uE3及β-HCG检测在二胎高龄产妇产前筛查唐氏综合征中的应用价值。方法选取2019年3月至2020年3月在我院进行DS筛查的二胎高龄孕妇180例为研究对象,所有孕妇均行无创DNA检测和血清学筛查。对其中任何一种方法判断为DS高危的孕妇,在其知情同意情况下行羊膜穿刺。以羊膜穿刺后染色体检查结果为金标准,比较无创DNA、血清学检测和无创DNA联合血清学检测在筛查DS中的效能。结果无创DNA、血清学检测、联合检测在筛查二胎高龄孕妇DS敏感度、阳性预测值差异有统计学意义(P<0.05),联合检测的敏感度、阳性预测值较单一指标检测高。ROC曲线分析中,联合检测筛查二胎高龄孕妇DS的AUC差异有统计学意义(P<0.05),联合检测的AUC较单一指标检测高。结论无创DNA联合血清AFP、uE3及β-HCG检测可提高二胎高龄产妇DS筛查的准确率,降低假阳性率,减少误诊和漏诊的发生,在产前筛查中具有重要意义。

Objective To explore application value of non-invasive DNA combined with serum AFP,uE3 andβ-HCG detection in prenatal screening of Down’s syndrome of second-born women.Methods The paper chose 180 advanced-age pregnant women with second births screened for DS in our hospital from March 2019 to March 2020 as research subjects.All pregnant women were treated with non-invasive DNA testing and serological screening.Pregnant women with high risk of DS by any of these methods were carried on amniocentesis with informed consent.With gold standard of chromosome examination results after amniocentesis,the paper compared effect of non-invasive DNA,serological testing and non-invasive DNA combined with serological testing in screening DS.Results Sensitivity and positive predictive value difference of non-invasive DNA,serological testing,and combined detection in screening second-born pregnant women with DS were statistically significant(P<0.05).Sensitivity and positive predictive value of combined detection were higher than single index detection.In ROC curve analysis,AUC difference of combined detection and screening of second-born pregnant women with DS was statistically significant(P<0.05),combined detection AUC was higher than single index detection.Conclusion Non-invasive DNA combined with serum AFP,uE3 andβ-HCG detection can improve accuracy of DS screening for advanced second-born mothers,reduce false positive rate,and occurrence of misdiagnosis and missed diagnosis,which has great significance in prenatal screening.