目的:探讨孕中期母血游离β人绒毛膜促性腺激素(Freeβhuman chorionic gonadotropin,Freeβ-hCG)与甲胎蛋白(Alpha-fetoprotein,AFP)的测定在产前筛查中的应用。方法:回顾性分析萧山医院2009年10月~2012年9月38 639例孕妇临床资料,均采用半自动时间分辨荧光免疫分析法检测孕妇血清AFP、Freeβ-hCG水平,通过wallac软件评估胎儿患唐氏综合征(DS)、爱德华综合征(ES)、神经管缺陷(NTD)的风险,并随访分析产前诊断结果及妊娠结局。结果:38 639例孕妇中完成回访33 559例(86.85%),高风险共994例(2.96%),其中DS高风险838例,ES高风险18例,NTD高风险118例。产前诊断及追踪随访发现高风险异常44例(4.43%),低风险异常304例,假阴性率为0.93%。结论:孕中期母血Freeβ-hCG、AFP检测结合孕妇年龄、体重、孕周、孕产史有利于发现高风险孕妇,结合产前诊断可提高胎儿异常检出率。 Objective: To investigate the application of maternal serum Freeβhuman chorionic gonadotropin (Free β-hCG) and Alpha-fetoprotein (AFP) in preterm preterm screening. Methods: The clinical data of 38 639 pregnant women in Xiaoshan Hospital from October 2009 to September 2012 were retrospectively analyzed. Semi-automatic time-resolved fluorescence immunoassay was used to detect serum levels of AFP and Freeβ-hCG in pregnant women, and Down’s disease was assessed by wallac software Syndrome (DS), Edward’s syndrome (ES) and neural tube defects (NTD) were analyzed retrospectively. Prenatal diagnosis and pregnancy outcome were analyzed. Results: Among 38 639 pregnant women, 33 559 (86.85%) were returned and 994 (2.96%) were high-risk. Among them 838 were high risk of DS, 18 were high risk of ES and 118 were high risk of NTD. Prenatal diagnosis and follow-up found that 44 cases (4.43%) had high-risk abnormalities, 304 cases had low-risk abnormalities, and the false-negative rate was 0.93%. Conclusion: The detection of Freeβ-hCG and AFP in the second trimester of pregnant women combined with the age, weight, gestational age and pregnancy history of pregnant women is beneficial to the detection of high-risk pregnant women. Prenatal diagnosis can improve the detection rate of fetal abnormalities.