目的评估早孕期联合筛查唐氏综合征(Down syndrome,DS)的效果。方法用时间分辨荧光免疫技术测定2341例11+0-13+6周孕妇d的血清游离β-人绒毛膜促性腺激素(freeβ-HCG)和妊娠相关蛋白A(PAPP-A)的浓度,按英国胎儿基金会(FMF)的要求测量胎儿颈后透明带(nuchal translucency,NT)的厚度,用lifecycle3.0计算DS风险值,风险值≥1/250的孕妇建议行产前诊断;随访所有孕妇的妊娠结局。结果检出高风险孕妇175人,筛查阳性率7.48%(175/2341),产前诊断率为60.57%(106/175);检出DS 6例、18三体和13三体各1例。DS假阴性1例核型为嵌合型,DS的检出率为85.7%(6/7),阳性预测值3.43%(6/175)。妊娠结局随访率及不良结局发生率分别为:高风险孕妇94.01%(157/167)和13.14%(23/175),低风险孕妇89.15%(1931/2166)和3.7%(72/1931)。高龄孕妇的比例16.02%(375//2341),筛查阳性率高龄组20%(75/375),低龄组5.09%(100/1966),6例DS中有5例是高龄孕妇占83.3%。结论早孕期联合筛查唐氏综合征检出率高,是一种高效可行的DS筛查方案。 Objective To evaluate the effect of Down Syndrome screening in early pregnancy. Methods The concentrations of free β-HCG and PAPP-A in 2341 pregnant women with 11 + 0-13 + 6 weeks of pregnancy were measured by time-resolved fluorescence immunoassay The British Fetal Foundation (FMF) requires measuring the thickness of the fetal nuchal translucency (NT), calculating the DS risk with lifecycle 3.0, and prenatal diagnosis with a risk of ≥1 / 250; followed up with all pregnant women Of pregnancy outcomes. Results A total of 175 pregnant women with high risk were detected. The positive rate of screening was 7.48% (175/2341) and the prenatal diagnosis rate was 60.57% (106/175). Six cases of DS, one case of trisomy 18 and one case of trisomy 13 . One case of DS false-negative karyotype was chimeric. The detection rate of DS was 85.7% (6/7) and the positive predictive value was 3.43% (6/175). Follow-up rates of pregnancy outcomes and adverse outcomes were 94.01% (157/167) and 13.14% (23/175) for high-risk pregnant women, 89.15% (1931/2166) and 3.7% (72/1931) for low-risk pregnant women, respectively. The percentage of elderly pregnant women was 16.02% (375/2341). The screening positive rate was 20% (75/375) in the advanced age group and 5.09% (100/1966) in the younger age group. 5 of 6 DS patients were 83.3% . Conclusion The detection rate of Down’s syndrome combined screening early pregnancy is high and feasible DS screening program.