孕早期生化标记物结合超声筛查唐氏综合征

目的:探讨孕早期唐氏综合征(DS)的产前筛查方法。方法:采用时间分辨免疫法对孕7~13周452例孕妇血清中PAPP-A和β-HCG两项血清标记物进行检测。同时用超声对其中孕10~13周的孕妇测量颈部透明带(nuchal translu-cency,NT)厚度。用Tl-risk风险统计软件进行风险率计算,以1∶250作为高风险的切割值。结果:二联生化筛查7~13周的452例孕妇中,筛出高危孕妇45例,确诊DS胎儿1例;二联生化+NT筛查10~13周的孕妇101例,筛出高危孕妇6例。结论:孕早期二联生化+NT筛查DS胎儿,有望使产前诊断时间提前,且筛查结果的假阳性率降低。

First-trimester screening for trisomy 21 combining biochemistry and ultrasound in routine clinical practice

Objective:To assess the effectiveness of the combined test in the prenatal detection of trisomy 21 in the first-trimester.Methods:First-trimester maternal serum biochemical markers(PAPP-A,β-HCG) were determined in maternal serum at 7~13 weeks.Fetal nuchal translucency were assessed at 10~13 weeks by ultrasound scan.A combined risk was estimated.When the risk was 1:250 or above,it was regarded as the cut-off value of high risk.Results:Biochemistry screening: in 452 pregnant women,45 cases were screened as high risk.One was identified as DS fetus.Biochemistry+NT: in 101 pregnant women,6 cases were screened as high risk.Conclusion:Screening for DS in the first trimester is feasible.The time of screening would be earlier than before a remarkably reduced false-positive observed.