探析孕早中期血清学检测指标联合筛查胎儿唐氏综合征的应用

Analysis of application of combined the first trimester with the second trimester maternal serum screening markers for Down's syndrome

目的探讨孕早中期血清学检测指标联合筛查胎儿唐氏综合征的检出率和准确率。方法回顾性分析本市2016年4月至2018年6月均采用孕早中期血清检测的24458例孕妇,以随访胎儿产后及染色体结果作为“金标准”,对比二联、三联及四联筛查诊断DS的敏感性、特异性和准确性,比较确诊DS胎儿和正常胎儿母体外周血清学指标水平。结果在24458例孕妇中,共有26例胎儿患有唐氏综合征,其余24432例均正常。四联筛查出真阳性24例、假阳性2例、真阴性24430例、假阴性2例,其灵敏性、特异性和准确度与三联筛查和二联筛查比较差异有统计学意义(P<0.05);DS胎儿AFP、孕早期及孕中期Fβ-hCG指标水平均明显高于正常胎儿(P<0.05),DS胎儿PAPP-A和uE3水平明显低于正常胎儿(P<0.05)。结论孕早中期血清学检测指标的联合应用具有较高的灵敏度和特异度,可以显著提高产前筛查的准确率,最大限度地减少唐氏综合征患儿的出生,值得临床合理推广。

Objective To observe the detection rate and accuracy rate of combined the first trimester with the second trimester maternal serum screening markers for Down's syndrome(DS).Methods 24458 cases of pregnant women who were tested with serum detection in the first trimester with the second trimester from April 2016 to June 2018 in our city were retrospective analyzed,and the follow-up of fetal postpartum and chromosome results was used as the"gold standard".Then,the sensitivity,specificity and accuracy in the diagnosis of DS between the double,triple and quadruple screening were compared,and the peripheral serological indexes of mothers between the DS fetus and normal fetus were compared.Results Among the 24458 pregnant women,26 fetuses had Down syndrome,and the remaining 24432 were normal.Quadruple screening detected 24 true positives,2 false positives,24430 true negatives,and 2 false negatives.The sensitivity,specificity and accuracy of quadruple screening were significantly higher than those of triple screening and double screening(P<0.05).The levels of alpha fetoprotein(AFP),free–beta human chorionic gonadotrophin(f-βhCG)in early pregnancy and f-βhCG in mid-pregnancy of DS fetus were significantly higher than those of normal fetus(P<0.05).The levels of pregnancy–associated plasma protein-A(PAPP-A)and estriol(uE3)of DS fetuses were significantly lower than those of normal fetuses(P<0.05).Conclusion The combined the first trimester with the second trimester maternal serum screening markers which it has high sensitivity and specificity,and can significantly improve the accuracy of prenatal screening and minimize the birth of Down syndrome children,thus it is worthy to be reasonable promoted.