931例孕妇唐氏综合征产前筛查结果分析

Analysis and report of prenata screening for dowm syndrome.

目的了解孕中期产前筛查干预胎儿唐氏综合征的作用。方法采用时间分辨荧光免疫法,检测孕妇血清中AFP和Free-β-HCG的浓度,结合孕妇年龄、孕周、体重等因素,配套软件分析胎儿患唐氏综合征的风险率,高风险孕妇遗传咨询、产前诊断。结果筛查931例孕妇,唐氏综合征高危52例,阳性率5.6%,开放性神经管缺陷高危4例,阳性率0.4%。结论孕中期母体血清标记物联合检测、分析,对防止唐氏儿出生、降低出生缺陷具有重要作用。

Objective To investigate the effect of prenatal screeing for Dowm syndrome by detecting serum AFP and Free-β-HCG in mid-pregnant women.Methods Use a method based on detecting maternal serum AFP and Free-β-HCG concentraction in pregnant womem,in combination with maternal age and gestational age and weight.Pregnant womem at risk for fetal DS were indentified by analyses of computr software.Results Among 931 prenant womem,52 cases（5.6%）were at high risk for DS,4 cases（0.4%）were at high risk for NTD.Conclusion Prenatal screeing by using of maternal serum markers can provide advantage for Dowm syndrome,decreasing the birth rate of DS.