目的比较早中孕整合筛查方案与中孕期三联筛查方案的临床效果,探讨早中孕整合筛查方案的临床价值。方法应用时间分辨荧光免疫方法 (DELFIA)检测早孕期母血清标志物妊娠相关蛋白A(PAPP-A),中孕期母血清标志物甲胎蛋白(AFP)、游离β人绒毛膜促性腺激素(freeβ-hCG)和游离雌三醇(uE_3),分别采用中孕期三联筛查方案(AFP、freeβ-hCG和uE_3)和早中孕整合筛查方案(早孕期PAPP-A、中孕期AFP、freeβ-hCG和uE_3),利用lifecycle4.0风险分析统计软件计算胎儿发生的风险率,对两种方案的效果进行比较分析。结果 3 598例中孕期筛查高风险孕妇193例均行羊水产前诊断,其中3例孕妇诊断为21-三体综合征;另外3 405例孕妇中孕期筛查低风险孕妇均有产后随访,其中1例孕妇21-三体综合征漏筛。应用中孕期三联筛查方案检出21-三体综合征真阳性3例,漏筛1例;应用早中孕整合筛查方案检出21-三体综合征真阳性4例。共检出21-三体综合征高风险190例,阳性率为5.28%(190/3 598),应用早中孕整合筛查方案检出21-三体综合征高风险99例,阳性率为2.75%(99/3 598)。中孕期筛查和早中孕整合筛查两种方法,差异有显著意义(χ~2=1 130.15,P<0.001)。共检出18-三体高风险8例,阳性率为0.22%(8/3 598),应用早中孕整合筛查方案检出18-三体高风险5例,阳性率为0.14%(5/3 598)。中孕期筛查和早中孕整合筛查两种方法比较,差异有显著意义(P<0.01)。结论应用早中孕整合筛查方案能显著降低假阳性率,对真阳性标本的筛查,整合筛查方案的效能也好于中孕筛查方案。 Objective To compare the clinical efficacy of the integrated screening program of early pregnancy and mid pregnancy with the triple screening program during the second trimester of pregnancy and to explore the clinical value of the integrated screening program of early and middle pregnancy. Methods The serum level of pregnancy related protein A (PAPP-A) in early pregnancy, AFP in middle pregnancy and free β (β) human chorionic gonadotropin (free β) were detected by time-resolved fluorescence immunoassay (AFP, freeβ-hCG and uE_3) and early-mid pregnancy pregnancy screening programs (PAPP-A in early pregnancy, AFP in middle pregnancy, free beta- hCG and uE_3), using lifecycle4.0 risk analysis statistical software to calculate the risk of fetal risk, the effectiveness of the two programs were analyzed. Results Among the 3 598 pregnant women who were screened for high risk pregnancies in 193 pregnancies, prenatal diagnosis of amniotic fluid was performed. Among them, 3 pregnant women were diagnosed as trisomy 21. In addition, 3 405 pregnant women with low risk during pregnancy were followed up, One case of pregnant women missed 21-trisomy syndrome. Application of triple trimester screening program detected 21 cases of true positive trisomy syndrome in 3 cases, missed the screen in 1 case; early pregnancy screening integrated screening program detected positive 21 cases of trisomy 21 in 4 cases. A total of 190 cases with high risk of trisomy 21 were detected, with a positive rate of 5.28% (190/3 598). 99 cases of high risk of trisomy 21 were detected by the integrated screening program of early and middle pregnancy. The positive rate was 2.75% (99/3 598). There was significant difference between the two methods in the screening during the second trimester and early pregnancy and middle pregnancy (χ ~ 2 = 1 130.15, P <0.001). Totally 8 cases with high risk of trisomy 18 were detected. The positive rate was 0.22% (8/3 598). The high risk of 18-trisomy was detected in 5 cases by using the integrated screening program of early and middle pregnancy, the positive rate was 0.14% (5/3 598). There was significant difference between the two methods in the screening during the first trimester and the second trimester screening (P <0.01). Conclusion Application of early pregnancy screening program can significantly reduce the false positive rate of true positive specimens screening, integrated screening program efficacy is also better than the screening program.