评价羊水染色体检测在产前诊断中的作用  

Investigate the significance of prenatal diagnosis indication by the diagnosis of amniotic cell chromosomal abnormalities

作　　者：潘倩莹[1] 孙筱放[1] 孔舒[1] 王鼎[1] 赖炜强 

机构地区：[1]广州医科大学附属第三医院妇产科研究所实验部,广东省产科重大疾病重点实验室,510150

出　　处：《中国优生与遗传杂志》2014年第7期44-45,6,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的评价羊水细胞染色体检测在产前诊断中的作用。方法对妊娠16∽24w的孕妇939例进行羊膜腔穿刺术,对羊水细胞染色体分析。结果检测出染色体异常共54例,其中21-三体13例,18-三体1例,13-三体1例,性染色体异常9例,平衡易位14例,其他染色体结构异常16例。结论羊水染色体检测可安全、有效的检测胎儿染色体异常,具有重要意义,值得进一步推广。Objective： To assess the prenatal diagnosis indication by the diagnosis of amniotic cell chromosomal abnormalities. Methods： 939 specimens （ 16∽24 weeks） of anmiotic cell gotten by amniocentesis were cultured and karyotyped. Results： Of the 123 cases, abnormal karyotypes were identified in 54 cases. 13 cases were trisomy of human chromosome 21, 1 case was trisomy of human chromosome 18, 1 case was trisomy of human chromosome 13, 9 cases were sexual chromosome abnormalities, 14 cases were chromosomal abnormality in balanced translocation, 16 cases were other abnormal karyotypes. Conclusion： The diagnosis of fetal chromosomal abnormalities through the test of amniotic cell chromosomal abnormalities is safe and effective. This method is important and worthy of further promotion.

关 键 词：产前检查 染色体检测 染色体核型分析 

分 类 号：R714.55[医药卫生—妇产科学]