摘要
目的对胎儿患有某些染色体疾病进行产前诊断,降低出生缺陷。方法对孕18-26周孕妇进行羊膜腔穿刺抽取羊水,做羊水细胞培养,并分析染色体核型。结果 481例孕妇,羊水培养成功477例,成功率99.16%,发现25例染色体异常,占5.19%,其中染色体数目异常4例,性染色体数目异常1例,嵌合体1例,平衡易位3例,其它结构异常16例。结论孕中期羊水细胞培养及染色体核型分析,不仅能及时发现胎儿染色体异常,而且能为孕妇是否继续妊娠提供科学依据,有利于降低出生缺陷发生率。
Objective：The aim of this study was to make prenatal diagnosis for the fetus with certain chromosomal diseases reduce birth defects.Methods： Amniotic cell gotten by amniocentesis were cultured and karyotyped.Results：Cases were cultured successfully in 477 cases.The successful rate was 99.16%.Among 25 cases with chromosomal abnormality cases in 481.Cases who were karyotyped,which take 5.19 % of the total cases.Among 25 cases with karyotype disorder,4 cases were autosomal chromosomal abnormalities,1 cases were sex chromosomal abnormalities,1 cases were mosaics,3 cases were balanced translocations and 16 cases were other chromosomal abnormalities.Conclusion：Amniocentesis and kargotyping not only can check out fetal chromosome abnormality in time,but also can provide the scientific basis for whether to continue the pregnancy.
出处
《中国优生与遗传杂志》
2011年第5期46-47,共2页
Chinese Journal of Birth Health & Heredity
关键词
羊水细胞培养
染色体核型
产前诊断
Amniotic cell Cultivat
Chromosomal karyotype
Prenatal diagnosis
