54例孕中期孕妇羊水性染色体异常的细胞遗传学分析  

54 cases of second trimester sex chromosome abnormal cytogenetic analysis

作　　者：欧阳鲁平 雷亚琴 费冬梅 黄红倩 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4期61-63,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：目的探讨孕中期行产前诊断的不同临床指征在检测出胎儿性染色体异常方面的应用。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。结果共检测出54例性染色体异常,异常率为0.4%(54/12314),其中以特纳综合征为主,34例,其次克氏综合征14例,还有超雌综合征4例,以及超雄综合征2例。主要行产前诊断的临床指征依次为唐氏筛查高危、高龄妊娠及超声检查异常等。结论孕中期性染色体异常在产前诊断中检出率较高,而唐氏筛查高危与高龄是孕中期产前诊断中检测出性染色体异常的主要临床指征。Objective：Discuss second trimester to prenatal diagnosis of different clinical indications in the application of detection of fetal sex chromosome abnormality. Methods：Based on 12 314 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. Results：A total of 54 cases of abnormal sex chromosome detection abnormal rate was 0.4%（54/12314）,which is given priority to with Turner syndrome,34 cases,there are 14 Klinefelter syndrome,and 4 cases of ultra female syndrome and super male syndrome in 2 cases. Main indications for prenatal diagnosis are down syndrome screening high,advanced maternal age and ultrasound abnormalities,et al. Conclusion：Second trimester sex chromosome abnormality in prenatal diagnosis detection rate is higher,middle and down syndrome screening high-risk and old age is pregnant to detect sex chromosome abnormality in prenatal diagnosis of major clinical indications.

关 键 词：孕中期 性染色体异常 特纳综合征 高龄妊娠 

分 类 号：R714.55[医药卫生—妇产科学]