目的探讨血清学产前筛查中期与早中孕期整合筛查胎儿染色体非整倍体异常的效果分析,提供高效率胎儿染色体非整倍体异常的筛查方案。方法选择筛查的231176例孕妇,其中中孕筛查201113例,早中孕整合筛查30063例;中孕筛查予采用DELFIA测定孕妇血清Free-HCGβ,甲胎蛋白(AFP),早中孕整合筛查分别予早孕采用时间分辨免疫荧光法(DELFIA)测定孕妇血清绒毛膜促性腺激素(Free-βh CG),妊娠相关蛋白A(PAPP-A),B超测定胎儿颈部透明带厚度(NT)值,中孕采用DELFIA测定孕妇血清Free-HCGβ,甲胎蛋白(AFP),然后运用软件分析唐氏综合征风险;高风险的孕妇进行羊水穿刺和脐静脉穿刺诊断,出生结局通过电话、电子网络跟踪随访。结果早中孕整合筛查比中孕筛查阳性率降低2.93%细胞学诊断率提升40.58%、检出异常率增加2.1%,侵入性穿刺减少55.42%,低风险的漏诊率0.10‰。结论早中孕整合筛查要比中孕筛查优越,高风险的阳性率低,细胞学诊断率、检出异常率明显高于中孕筛查,低风险的漏诊率与中孕接近,但是能有效减少孕妇侵入性穿刺数,减轻了孕妇从产前筛查到诊断的恐惧心理,也有效减少了缺陷儿的发生。 OBJECTIVE: To investigate the effect of integrated screening of aneuploidy in fetuses with metaphase serology in prenatal screening and early-mid pregnancy to provide a screening program for high-efficiency fetal chromosomal aneuploidy. METHODS: A total of 231176 pregnant women were selected for screening, including 201,113 pregnancies and 30063 early-mid pregnancy pregnancies. Serum levels of Free-HCGβ, AFP, Consensus screening was carried out in early pregnancy to determine the serum levels of Free-βh CG, PAPP-A and B-ultrasound in pregnant women by time-resolved immunofluorescence assay (DELFIA) NT). The serum levels of Free-HCGβ and AFP in pregnant women were measured by DELFIA in the second trimester. Then the software was used to analyze the risk of Down’s syndrome. The high-risk pregnant women were diagnosed by amniocentesis and umbilical vein puncture. Electronic web tracking followed up. Results The positive rate of integrated screening in early pregnancy was lower than that in second trimester screening by 2.93%. The cytological diagnosis rate was increased by 40.58%. The detection rate was increased by 2.1%. The invasive puncture was reduced by 55.42%. The low risk missed diagnosis rate was 0.10%. Conclusion Early screening screening in early pregnancy is superior to screening in the second trimester, and the positive rate of high risk is low. The cytological diagnosis rate and abnormal detection rate are obviously higher than those of the second trimester screening. The low risk of misdiagnosis is close to that of the second trimester. However, Can effectively reduce the number of invasive incision in pregnant women, reduce the fear of prenatal screening to diagnosis of pregnant women, but also effectively reduce the incidence of defects in children.