吉林地区1018例不同指征羊水细胞产前诊断临床分析  

Clinical analysis on prenatal diagnosis of amniotic fluid cells in 1018 cases with different indications in Jilin area

作　　者：昝春芳 刘祥印[1] 汪明璇 奇丽娜 刘睿智[1] 李付彪[2] 

机构地区：[1]吉林大学第一医院生殖产前中心,吉林长春130021 [2]吉林大学第一医院男科

出　　处：《中国妇幼保健》2014年第31期5119-5122,共4页Maternal and Child Health Care of China

基　　金：吉林省发改委产业技术研究与开发项目〔2011007-12〕

摘　　要：目的：探讨羊水细胞染色体核型分析在不同指征产前诊断中的应用。方法：无菌条件下经B超介导对1 020例孕15～24周的孕妇行羊膜腔穿刺,每例抽取羊水20 ml,羊水细胞培养、染色体制备及核型分析。结果：共收集1 020例羊水标本,1 018例培养成功,成功率为99.80%。不同产前诊断指征检出率各异,对1 018例羊水细胞进行染色体核型分析,核型异常36例,检出率为3.54%;以21-三体、18-三体较为常见,其中21-三体18例,18-三体5例,其他异常核型13例。此外,还存在染色体多态现象56例,以9号倒位、1qh＋、15pstk＋、16qh＋等最多见。结论：羊水细胞染色体核型分析对于诊断胎儿染色体病、降低出生缺陷发生率有重要意义。Objective： To explore the application of chromosomal karyotyping of amniotic fluid cells in prenatal diagnosis of cases with different indications. Methods： A total of 1 020 pregnant women during 15 -24 gestational weeks underwent amniocentesis via B - mode uhrasonography under aseptic condition. Twenty milliliters amniotie fluid was extracted from each woman. And then amniotic fluid cells were cultured and prepared, chromosomal karyotyping was performed. Results： A total of 1 020 amniotie fluid cell specimens were collect- ed, 1 018 specimens were successfully cultured and the successful rate was 99. 80%. The detection rates of cases with different indications varied. Chromosomal karyotyping was performed in 1 018 cases, 36 cases with abnormal karyotype were found and the detection rate was 3.54%. Trisomy 21 syndrome and trisomy 18 syndrome were the most common types, including 18 cases with trisomy 21 syndrome, 5 cases with trisomy 18 syndrome and 13 cases with the other abnormal karyotypes. Moreover, 56 eases with chromosomal polymorphism were found, and inv （9）, lqh ＋ , 15pstk ＋ and 16qh ＋ were the most common types. Coneluslon： Chromosomal karyotyping of amniotie fluid cells is important for diagnosing fetal chromosomal diseases and reducing the incidence rate of birth defects.

关 键 词：羊水细胞 染色体核型分析 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]