产前筛查和基因多态性位点在唐氏综合征产前诊断中的应用

Application of Prenatal Screening and Genetic Polymorphistic loci in the Prenatal Diagnosis for Down's Syndrome.

目的 在建立可靠的产前筛查方法的同时 ,采用快速、简便、准确的产前诊断方法 ,防止唐氏综合征 (DS)患儿的出生。方法 采用酶联免疫方法测定妊娠 14～ 2 0w孕妇血清甲胎蛋白 (AFP)和绒毛膜促性腺激素 β亚基 (β～HCG)浓度 ,结合孕妇年龄、孕周和体重 ,用计算机软件进行分析 ,得到每位孕妇所怀胎儿DS风险系数。对筛查出胎儿唐氏综合征高风险孕妇 ,再利用 2 1号染色体上的 6个多态性位点对其作产前基因诊断。结果 经产前筛查 ,在 395例孕妇中发现 10例胎儿唐氏综合征高风险孕妇 ,其中 1例产前基因诊断为胎儿唐氏综合征 ,与染色体核型分析结果相符。结论 产前筛查结合基因多态性在唐氏综合征产前诊断中具有很好的应用价值。

Objective: Rapid,simple and accurate prenatal diagnoses were made to prevent the births of Down's syndrome(DS) through prenatal screening.Method: We used a method based on detecting maternal serum alpha fetoprotein(AFP)and free beta unit of human chorionic gonadotrophin(β～HCG)concentrations in the women of 14～20 weeks pregnance in combination with maternal age,gestational age and maternal weight. Pregnant women at risk for fetal DS were identified by analyses of computer software.Then prenatal genetic diagnosis was made by six polymorphistic loci of chromosome 21.Result: Among 395 women of 14～20 weeks pregnance,ten cases were at high risk for DS and one of them was proved to be fetal DS prenatal genetic diagnosis.Conclution: There is very important value in prenatal diagnosis for fetal DS through prenatal screening and genetic polymorphism.