孕早、中期血清学产前筛查染色体异常的效果分析

目的探讨不同孕期血清学产前筛查的实际效果。方法孕早期4297例孕妇采用PAPP-A＋free-β-hCG血清标志物进行产前筛查,孕中期28490例孕妇采用free-β-hCG＋AFP＋uE3三联血清标志物进行产前筛查,筛查结果应用Lifecycle.3.0软件计算唐氏综合征及18三体危险概率。对高风险孕妇进行羊水或脐血细胞染色体分析。结果孕早期高风险孕妇157例,产前确诊唐氏综合征患儿3例,孕中期高风险孕妇1978例,确诊唐氏综合征患儿15例,18三体5例,13三体1例。在本研究中孕早期的筛查假阳性率为3.34%,而孕中期组假阳性率为6.74%,明显高于孕早期组（P〈0.01）,假阳性率下降了50.45%。结论孕早期筛查模式要优于孕中期,孕早期接受筛查可显著降低参加产前诊断人数,避免了不必要的胎儿丢失。

Analysis of prenatal screening chromosomal abnomality syndrome in first and second trimester

Objective:Toinvestigate the effectiveness of prenatal screening in First and second trimester.Methods: Serum(PAPP-A and free-β-hCG) level of 4297 pregnant women in First trimester and Serum(free-β-hCG and AFP and uE3) level of 28490 pregnant women in second trimester were detected.The risk value was calculated with Lifecycle 3.0 software.The pregnant women who were in high risk need to receive fetal karyotype analysis.Results: In First trimester underwent prenatal screening,157 of them were in high risk,3 cases of Down′s syndrome were determined,while in second trimester underwent prenatal screening,1978 of them were in high risk,15 cases of Down′s syndrome,8 cases of trisome18 and one case of trisome13 were determined.There was significant difference in the false positive rate in the two groups(First trimester and second trimester groups)(3.34% and 6.74%,P<0.01).Conclusion: The prenatal screening in first second trimester is superior to in second trimester.The amount of unnecessary fetal karyotype analysis reduced remarkably because of the prenatal screening in first second trimester,which can avoid unnecessary fetal loss.