75例孕中期性染色体异常的细胞遗传学分析  

Sex chromosome abnormality in the second trimester of the 75 cases of pregnant cytogenetic analysis

作　　者：欧阳鲁平 雷亚琴 谢意 孙惟佳 郑陈光 

机构地区：[1]广西壮族自治区妇产医院/妇幼保健院遗传代谢中心实验室,广西南宁530003

出　　处：《中国优生与遗传杂志》2015年第2期36-37,58,共3页Chinese Journal of Birth Health & Heredity

基　　金：十二五国家科技支撑计划项目两项(2012BAI09B04)

摘　　要：目的通过分析孕中期不同的高危指征与胎儿性染色体异常之间的联系,探讨性染色体异常的产前诊断指征。方法统计分析2009年1月至2014年4月,来我院遗传门诊行羊膜腔穿刺的15 920例患者,制备染色体和核型分析。结果 15 920例羊水产前诊断标本,共检测出75例性染色体异常,其中以17例45,X;10例46,X,inv(Y);9例45,X(m)/46,XX(n);9例47,XXY等为主。结论孕妇在孕中期具有唐氏血清学筛查高危、高龄妊娠或B超检查软指标异常或父母地贫携带者等,这类孕妇具有生育出携带性染色体数目异常或结构构异常胎儿的风险。做好产前诊断是减少出生缺陷儿的重要举措。Objective：Through the analysis of the high risk of mid pregnancy different indications and the connection between the fetus sex chromosome abnormality,discusses an indication of the prenatal diagnosis of chromosomal abnormalities. Methods：Statistical analysis between January 2009 and April 2014,line to our genetic clinic amniotic cavity puncture of the 15 920 patients,the preparation of chromosome and karyotype analysis.Results：15 920 cases of amniotic fluid specimens of prenatal diagnosis,detection of 75 cases of abnormal sex chromosome,45,of which 17 cases X;10 cases,46 X,inv（Y）;9 cases of 45,X（m）/ 46,XX（n）;Combinations 9 cases of 47,XXY,et al. Conclusion：Serological screening high-risk pregnant women with down syndrome during pregnancy,pregnancy or B ultrasound soft data exception or parents operators,such as adverse fetal the pregnant women with abnormal sex chromosome aneuploidy or institutions such as risk. Completes the prenatal diagnosis of important measures to reduce birth defects.

关 键 词：孕中期 性染色体异常 产前诊断 染色体数目异常 

分 类 号：R714.5[医药卫生—妇产科学]