绒毛活检术在孕早期产前诊断中的应用  

Application value of chorionic villus biopsy(TA-CVS) in early pregnancy for prenatal diagnosis

作　　者：苏景玉 欧阳鲁平 刘天盛 黄鹏 费东梅 黄红倩 谢意 郑陈光 

机构地区：[1]广西壮族自治区妇产医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11期40-41,56,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨绒毛活检术（TA-CVS）在孕早期产前诊断中的应用价值。方法对600例具有产前指征的孕妇于孕早期在超声介导下行绒毛穿刺活检术,对绒毛进行常规细胞培养和染色体G显带核型分析。其中培养后有539例做地中海贫血基因检测。结果 600例绒毛中,培养成功597例,成功率99.5%,检出染色体异常43例,异常率7.2%（43/597）,539例地贫基因检测中,共检出56例重型α-地贫。结论绒毛活检术（TA-CVS）是产前诊断的重要方法,此技术可在妊娠更早期（9~14w）进行,需要作出选择性流产时,给孕妇带来的伤害较小。使得越来越多的遗传疾病及先天性缺陷在妊娠更早期就能准确地检测出来,应加以推广。Objective：To investigate the chorionic villus biopsy（TA-CVS） in early pregnancy and its application value for prenatal diagnosis. Methods：Performed Ultrasound mediated chorionic villus biopsy in 600 cases of pregnant women with indications of abnormality. Collected villi went through conventional cell culturing and chromosome G banding karyotype analysis. 539 cases of the cultured villi conducted thalassemia gene detection. Results：Out of 600 cases of chorionic villi,597 of them cultivated successfully,which yields in a success rate of 99.5%. 43 cases of chromosomal abnormalities were found,an abnormal rate of 7.2%（43/597）,and 56 cases of severe alpha thalassemia were identified through thalassemia gene test（56/539）.Conclusion：TA-CVS is an important method for prenatal diagnosis,this technique can be conduct in early pregnancy（9~14weeks）,so that women who required selective abortion may suffer less. TA-CVS should also be promoted to achieve early and precise detection of genetic diseases or congenital defects during pregnancy.

关 键 词：孕早期 绒毛活检 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]