ACCESS在唐氏综合征筛查的应用

Application of ACCESS in screening of Down's syndrome in pregnant women at second trimesters

目的探讨血清标志物甲胎蛋白(AFP)、β-绒毛膜促性腺激素(β-HCG)、雌三醇(uE3)对孕中期妇女进行胎儿唐氏综合征(DS)为主的先天缺陷筛查的作用。方法用全自动微粒子发光酶免疫分析仪(ACCESS)对1 310例孕(14-19W)孕妇血清AFP、β-HCG、和uE3三项指标进行检测,并结合孕妇年龄、孕周、体重、是否双胎、有无糖尿病等,采用仪器配套软件计算风险概率,对高风险孕妇进行B超及羊水细胞染色体检查进行确认。结果在1310例孕妇中按ACCESS仪提供的中位数和本组孕妇的中位数计算,DS筛查阳性率分别为3．13%、5．42%；18三体综合征筛查阳性率分别为2．06%、2．90%；神经管缺陷筛查阳性率均为2．98%。共检出先天缺陷9例,检出率为0．61%。结论孕中期血清AFP、β-HCC和uE3三项标志物联合检测是预防先天缺陷患儿出生的重要途径。

Objective To explore the effect of the maternal serum markers of Alpha - fetoprotein（AFP）, human chorionic gonadotrophin（frec beta - HCG） and u - Estriol（uE3） in screening of congenital fetal abnormality such Is Down＇s syndrome in the pregnant women at second trimester. Methods Serum samples were collected from 1310 pregnant women at second trimester, and AFP, β- HCG and uE3 were determined by all- automatic microparticle luminescence immunoassay（MLIA） in combination with other parameters of maternal age, weekof gestation, weight, whether or not twin pregnancy,diabetes etc. Amniotic fluid cell chromosomes and ultrasonography were also conducted to those at high risk. Results The positive rate of Down＇ s syndrome and trisomy 18 syndrome were 3.13% and 2.06% by ACCESS, but the risk rates of Down＇s syndrome and trisomy 18 syndrome were 5.42% and 2.90% by laberatory test . The positive rate of neural tube defects was 2.98% in the two groups. There 9 cases with congenital defects were detected from 1 310 cases with a positive rate of 0.61 %. Conclusion The joint screening of maternal serum markers of AFP,β- HCG and uE3 is a major way for preventing DS,NTD,trisemy 18 syndrome and other birth defects.