宁德地区462例唐氏综合征高风险胎儿染色体核型分析  

Fetal karyotype analysis in 462 cases for high risk of serological screening for Down's syndrome

作　　者：左娟[1] 李朝晖[1] 朱瑾[1] 刘洁[1] 张雷[1] 

机构地区：[1]福建医科大学附属闽东医院检验科,宁德355000

出　　处：《中国优生与遗传杂志》2014年第10期54-55,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨唐氏征筛查在检出胎儿异常染色体中的价值;方法取唐氏综合征高风险孕妇462例对其行羊膜腔穿刺,羊水细胞培养、染色体核型分析;结果羊水细胞培养成功率为100%,检出异常核型35例,其中21-三体7例(包括罗伯逊易位1例),18-三体3例,染色体结构异常2例,多态性变异20例,性染色体数目异常3例,其它异常1例;结论唐氏征筛查不仅有助于避免唐氏综合征患儿出生,对其它染色体异常也有警示作用。Objective： To investigate the value of serological screening for Down＇ s syndrome in detecting chromosomal abnormalities. Methods： 462 cases were chosen.All patients were done amniocentesis for high risk of prenatal serological screening for Down＇ s syndrome, and amniotic fluid cell were cultured, and the fetal karyotype were analyed.Results： The rate of training success is 100%.The abnormal chromosome karyotypes of 35 cases were as follows： 7cases for trisomy 21, including lcase for the Robertsonian translocation, 3 case for trisomy 18, 2 cases for structural chromosomal abnormality, 20 cases for mosaicism, 3 cases for sex chromosome abnormalities, and 1 case for other chromosome abnormalities. Conclusion： Serological screening is important to prevent the birth of Down＇ s syndrome, and it can help detecting other chromosomal abnormalities.

关 键 词：唐氏综合征 血清学筛查 高风险 染色体异常 核型分析 

分 类 号：R714.5[医药卫生—妇产科学]