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目的:了解孕中期产前筛查对胎儿染色体异常及神经管的作用。方法:应用时间分辨免疫荧光分析法(DELFIA),对孕15~21周孕妇血清AFP、Free-β-HCG,uE3的浓度进行检测,对高风险孕妇在知情的情况下,自愿选择进行羊水穿刺,羊水细胞染色体核型分析。结果:筛查高风险432例,其中21三体高风险280例,18三体高风险64例,NTD高风险88例。344例进行了羊水细胞染色体检查,检出染色体异常核型12例。88例NTD高风险孕妇中,共检出无脑儿和脊柱裂等10例。结论:在孕妇中进行产前筛查是非常必要的。
Objective: To understand the effect of prenatal screening in the second trimester on fetal chromosomal abnormalities and neural tube. Methods: The serum levels of AFP, Free-β-HCG and uE3 in pregnant women aged 15 to 21 weeks were detected by time-resolved immunofluorescence assay (DELFIA), and amniotic fluid puncture , Amniotic fluid cell chromosome karyotype analysis. RESULTS: A total of 432 patients were screened for high risk, of which 280 were high risk of trisomy 21, 64 were high risk of trisomy 18, and 88 were high risk of NTD. 344 cases of amniotic fluid cell chromosome examination, detection of chromosomal abnormal karyotype in 12 cases. In 88 high risk pregnant women with NTD, 10 cases of anencephaly and spina bifida were detected. Conclusion: Prenatal screening in pregnant women is necessary.