血清学结合超声检查在非整倍体产前筛查中的应用

目的:探讨血清学结合超声在胎儿非整倍体产前筛查中的应用价值。方法:采用孕中期孕母血清学三联(AFP、Freeβ-hCG、uE3)检测结合胎儿系统超声检查,对1 831例孕16~25周孕妇进行胎儿非整倍体染色体病产前筛查,对筛查高风险孕妇,进行羊水细胞染色体核型分析。结果:1 831例孕妇中筛查出高危孕妇107例,其中血清学筛查高危孕妇98例,超声检查胎儿异常9例,经羊水细胞染色体分析产前诊断确诊唐氏综合征2例、18-三体综合征2例。结论:孕中期血清三联筛查结合胎儿系统超声检查的产前筛查方案,可扩大筛查目标的涵盖范围,减少漏诊及误诊,有效提高胎儿非整倍体染色体异常的检出率,是一种简单、无创、有效的产前筛查模式。

Application of serologic examination combined with ultrasonography in prenatal screening of aneuploidy

Objective:To explore the application values of serologic examination combined with ultrasonography in prenatal screening of fetal aneuploidy.Methods:Maternal serologic triple examination(AFP,Free β-hCG and uE3) during the second trimester of pregnancy combined with fetal systematical ultrasonography was used for prenatal screening of fetal chromosomal aneuploidy among 1 831 pregnant women of 16～25 gestational weeks,the pregnant women with high risk of prenatal screening received chromosomal karyotype analysis of amniotic cells.Results:Among 1 831 pregnant women,107 high risk cases were screened out,including 98 high risk cases of serologic screening,9 cases with abnormal fetuses detected by ultrasonography,2 cases diagnosed as Down's syndrome and 2 cases diagnosed as trisomy 18 definitely by chromosomal analysis of amniotic cells.Conclusion:The prenatal screening programme of serologic triple examination during the second trimester of pregnancy combined with fetal systematical ultrasonography can expand the coverage extent of screening objects,reduce misdiagnosis and missed diagnosis,increase the detection rate of fetal chromosomal aneuploidy effectively,which is a simple,minimally invasive and effective prenatal screening protocol.