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目的：评价孕妇血清标记物（甲胎蛋白AFP、β- 绒毛膜促性腺激素β-hCG 和雌三醇uE3) 的孕中期三联筛查在临床中的应用价值。方法：采用酶联免疫吸附法（ELISA）对1200 例孕中期(14～22 周)孕妇进行血清标记物AFP、β-hCG 和uE3 的检测，结合孕龄、孕周、体重等因素，经专门的筛查分析软件，计算唐氏综合征，18 三体及神经管缺陷（NTD）的风险率。如孕妇为高风险，则进行胎儿的超声检查和染色体核型分析的产前诊断。结果：在1200 例孕妇中，筛查高风险的孕妇有73 例，其中唐氏综合征，18 三体， NTD 高风险孕妇分别为65 例，5 例和3 例，假阳性率为6.08%（73/1200）。其中59 例接受了产前诊断，占高风险孕妇的80.8% (59/73)。共检出1 例唐氏综合征儿和1 例无脑儿，未发现18 三体，检出率为100%（2/2），未有漏诊的情况。妊娠不良结局在筛查高风险组和低风险组的比率分别为17.1%和1.32%，两组有显著性差异(P<0.01)。结论：利用孕妇血清标记物（AFP、β-hCG 和uE3）的孕中期无创伤性产前筛查，结合产前诊断，对减少出生缺陷儿的出生，具有重要意义，并且高风险的筛查结果对胎儿的预后有一定的提示作用。

英文摘要:

Objective: To assess the value of triple test with three maternal serum markers：α-fetoprotein （AFP）, free-β-human chorionic gonadotrophin （free-β-hCG）and unconjugated estriol (uE3) in the second trimester prenatal screening. Methods: Prenatal serum screening were offered to the 14～22 weeks pregnant women by measuring the serum AFP, free-βhCG and uE3 with ELISA and calculating the risk by special software. If the risk is high, the pregnant women were advised to do prenatal diagnosis. Results: Within 1 200 cases of women, the cases in high risk are 73, including 65 cases in Down's syndrom, 5 cases in 18-trisomy and 3 cases in neural tube defect. The false positive rate were 6.08% , and the detect rate were 100% (2/2). 1 case was confirmed the Down's syndrome by cytogenetics analysis, another 1 case was diagnosed the neural tube defect via ultrasonography. adverse obstetric outcome between high risk group and the low risk group were 17.1% and 1.32%, the difference was significant (P <0.01). Conclusion: The prenatal screening with maternal serum markers: AFP, Free-βhCG and uE3 is an effective and safe screening strategy, and the high risk result is helpful in obstetric outcome.

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