妊娠中期胎儿染色体病的产前诊断  

Prenatal diagnosis of fetal chromosomal diseases during the second trimester of gestation

作　　者：李岩[1] 张秀玲[1] 史云芳[1] 刘殿芹[1] 辛德荣[1] 杨晓惠[1] 张颖[1] 

机构地区：[1]天津医科大学总医院妇产科,天津市产前诊断中心,天津300052

出　　处：《中国优生与遗传杂志》2009年第5期67-68,16,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨羊水细胞染色体核型分析在妊娠中期产前诊断胎儿染色体病中的必要性和安全性。方法1982年1月至2007年9月天津医科大学总医院1531例符合产前诊断指征的孕妇,于妊娠19-26周在B超引导下进行羊膜腔穿刺取羊水15-20ml,羊水细胞培养G显带进行羊水细胞染色体核型分析。结果1531例羊水细胞培养成功1492例,成功率为97.45%(1492/1531);1492例羊水染色体核型分析,异常核型45例,异常率为3.02%(45/1492),其中染色体数目异常21例(46.67%,21/45),主要是21-三体综合征(10例)和18-三体综合征(5例);染色体结构异常24例(53.33%,24/45),异常核型的人群分布以唐氏综合征筛查高风险为主(84.44%,38/45);遗传多态性3例;胎儿丢失率为0.65‰(1/1531),胎死宫内率为1.31‰。羊水染色体异常核型分析结果与随访结果一致。结论羊水细胞染色体核型分析是必要的、安全可靠的,在产前诊断染色体病中起着不可替代的作用。Objective ： To explore the necessity and security of prenatal diagnosis with amniotic cell culture during the second tri- mester of gestation. Methods： Fetal chromosomal karyotypes were examined in 1 531 pregnant women （19 -26 weeks gestation） with amniotic cell culture. Results： The success rate of amniotic cell culture was 97.45% （1 492/1 531 ）. 45 cases chromosomal abnor- malities were detected and the detective rate was 3.02%. Of which, 21 cases were numeric abnormalities, 24 cases were structural abnormalities. The 84.44% of the pregnant women with fetal chromosomal abnormalities were in high risk of Down＇s syndrom. 3 cases were polymorphism. Losed rate of fetal was 0. 65‰. Dead rate of fetal in uterus was 1.31‰ . The diagnostic results of chromosomal diseases were coincidence with the following inquiry. Conclusion ： Amniotic fluid culture for prenatal diagnosis of chromosomal diseases is absolutely necessary , safe and reliable.

关 键 词：唐氏综合征 羊水细胞培养 核型分析 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]