41例产前诊断性染色体三体综合征的细胞遗传学分析  

41 cases of prenatal diagnosis sex chromosome cytogenetic analysis of trisomy syndrome

作　　者：欧阳鲁平 费冬梅 刘天盛 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5期50-51,136,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：目的研究不同产前诊断指征在胎儿性染色体三体综合征诊断中的应用价值。方法通过对有产前诊断指征的12 314例孕妇行羊膜腔穿刺,抽取羊水行羊水细胞遗传学检查;以及6418例孕妇经腹穿刺脐静脉抽取脐血,行脐血淋巴细胞遗传学分析。结果共检测出41例性染色体三体综合征,异常率为0.2%(41/18732),其中以47,XXY为主,共22例,其次为47,XXX,13例,还有6例47,XYY。主要行产前诊断指征为高龄妊娠、唐氏筛查高危及超声检查异常。结论克氏综合征等性染色体异常在产前诊断中检出率较高,同时高龄与唐氏征筛查高危在行产前诊断检测中,是检测出克氏综合征等的主要临床指征,应做好产前诊断检查。Objective： Research different indications of prenatal diagnosis in the diagnosis of fetal sex chromosomes trisomy syndrome application value. Methods. Based on 12314 cases of pregnant women in line with prenatal diagnosis indications amniotic cavity puncture, extraction of the amniotic fluid lines of amniotic fluid cells genetic testing; And 6418 cases of pregnant women abdominal puncture umbilical vein extraction of umbilical cord blood, cord blood lymphatic cytogenetic analysis. Results. Were detected in 41 cases of sex chromosome trisomy syndrome, the abnormal rate was 0.2% （41/18732） , among them 47,XXY is given priority to, a total of 22 cases, followed by 47,XXX, 13 cases, 6 cases of 47,XYY. Main indications for prenatal diagnosis, advanced maternal age, down syndrome screening high risk, ultrasound abnormalities. Conclusion： Klinefelter syndrome and other sex chromosome anomaly detection rate is higher in the prenatal diagnosis, at the same time, advanced maternal age and down syndrome screening high-risk play an important role in prenatal diagnostic testing, to detect the Klinefelter syndrome and other major clinical indications, should do well in prenatal diagnosis.

关 键 词：克氏综合征 产前诊断 高龄 唐氏征筛查高危 

分 类 号：R714.5[医药卫生—妇产科学]