2475例胎儿染色体核型检测及产前诊断指征分析  

2 475 cases of fetal karyotype detection and prenatal diagnosis indications analysis

作　　者：陈桂兰 唐芳 屈艳霞 唐盈 卢航 江帆 黄丽娟[2] 吴伟雄 

机构地区：[1]广州市人口和计划生育科学研究所,510410 [2]广州医科大学第三附属医院产前诊断科,510150

出　　处：《重庆医学》2015年第7期896-898,共3页Chongqing medicine

基　　金：国家十一五科技支撑计划基金资助项目(2006BAI05A02);广东省计生委基金资助项目(2012256);广东省科技厅科技基础条件建设基金资助项目(2010B060100014)

摘　　要：目的通过分析广州市出生缺陷干预工程中产前筛查高危孕妇的染色体核型及产前诊断指征,探讨广州市高危孕妇的胎儿常见异常核型、产前诊断指征以及妊娠结局。方法对2010年1月至2012年9月通过该所转诊的2 475例产前筛查高风险的孕妇进行羊膜腔或脐静脉血穿刺,细胞培养及染色体制片,G显带分析,产后随访。结果检测出染色体异常38例(21-三体12例,性染色体异常9例,平衡易位7例,18-三体5例,倒位2例,缺失2例,三倍体1例),异常率为1.54%;检测出染色体多态132例[1,9,16qh+60例,Inv(9)30例,D/Gs+25例,Y多态17例]。进行产前诊断的指征中,唐氏血清学筛查高风险因素668例、高龄因素449例、B超筛查异常因素158例、不良孕产史因素38例。结论 21-三体是本文比例最高的异常核型,唐氏血清学筛查高风险是最主要的产前诊断原因,对高危孕妇行胎儿染色体核型分析检测和系统B超排畸筛查均至关重要。Objective To analyze the chromosome karyotypes, prenatal diagnosis indications and pregnancy outcomes of high-risk pregnant women in Guangzhou. Methods 2 475 cases pregnant women with screening high risk were operated amniocen- tesis or cordocentesis from January 2010 to September 2012, then amniotic fluids and cord bloods were cultured and the cell were collected for chromosome preparation,G banding,karyotype analysis. We completed follow-up works lastly. Results 38 cases were detected chromosomal abnormality（including 12 cases Downrs syndrome, 9 cases sex chromosome abnormality, 7 cases transloca- tion, 5 cases Edwards＇ syndrome, 2 cases inversion, 2 cases deletion, 1 cases triploid）, the abnormal rate was 1.54 %. 132 cases were detected chromosomal polymorphism（60 cases 1,9,16qh^＋ , 30 cases inv （9）, 25 cases D/Gs^＋ , 17 cases Y polymorphism）. Research on prenatal diagnosis indications,there were 449 cases advanced age,668 cases Downrs screening with high risk, 158 cases with ab- normal B ultrasound screening,38 cases with adverse pregnancy history. Conclusion The highest percentage abnormal karyotype is Down＇s syndrome. Down＇s screening high risk is the main reason for prenatal diagnosis. It is very important to do prenatal diagnos- tic and system B ultrasound for the high-risk pregnant women.

关 键 词：羊水穿刺术 脐带穿刺术 产前诊断 染色体异常 染色体多态性 

分 类 号：R714.5[医药卫生—妇产科学]