2414例胎儿羊水细胞的体外培养及染色体核型分析  

Investigation on Chromosomal Karyotypes of Amniotic Fluid Cells for 2 414 Cases

作　　者：卢丽华[1] 邹德学[1] 胡飞雪[1] 

机构地区：[1]北京大学深圳医院检验科遗传室,深圳518036

出　　处：《生殖与避孕》2013年第5期323-327,共5页Reproduction and Contraception

基　　金：深圳市科技计划项目;项目编号:201102006

摘　　要：目的：探讨羊水细胞染色体分析在产前诊断中的应用价值。方法：无菌条件下,经B超介导,对2 414名孕16~25周的孕妇行羊膜腔穿刺术,每例抽取羊水20 ml,经体外培养后进行G显带,显微镜下做核型分析,并了解异常核型的相应高危因素分布情况。结果：共收集到2 414例羊水标本,2 407例培养成功,成功率为99.7%。核型异常124例,异常率为5.1%。其中,染色体数目异常46例,三体综合征38例,占数目异常的82.6%（38/46）;结构异常56例,随机的平衡易位、倒位及罗氏易位共47例,占结构异常的83.9%（47/56）;22例嵌合体均进行了脐带血核型分析,结果核型均正常。将孕妇按行穿刺的首要指征分为7组,唐氏综合征筛查高危组和高龄组的受检人数分别占48.3%和36.6%,显著多于其他组（P〈0.05）;B超检查示胎儿异常组、颈后透明层（nuchaltranslucency,NT）增厚组及夫妇一方为染色体异常携带者组的核型异常检出率分别为25.5%、19.0%及17.2%,与其它组比较差异显著（P〈0.05）。结论：改进的羊水细胞体外培养方法对核型分析更具实用性。羊水染色体核型分析是安全、有效的诊断胎儿染色体病的方法,在产前诊断中占有重要地位。Objective： To investigate the application of karyotypes of amniotic fluid cells in prenatal diagnosis.Methods： A total of 2 414 pregnant women received amniocenteiss via B ultranound in sterile condition.A volume of 20 ml amniotic fluid was extracted from each case.Then the amniotic fluid cells were in vitro cultrued and their karyotypes were analysed by G band.Results： There were 124 cases with chromosomal abnormalities and it was 5.1% over all 2 414 cases.There were 46 cases with chromosomal numberical abnormality and 38 cases with trisomy syndrome,accounting for 82.6% of chromosomal numberical abnormality.There were 56 cases with chromosomal structural abnormality and 47 cases with balanced chromosome rearrangements including balanced translocation,Rob’s translocation and inversion,accounting for 83.9% of chromosomal structural abnormality.There were 22 cases with mosaicism and they had normal chromosome of umbilical cord blood follow-up.The constituent ratios of Down’s high-risk group and advanced maternal age group were 48.3% and 36.6%,respectively,which were significantly higher than those of other groups（P0.05）.The abnormal ratios in fetus abnormal ultra-sonographic group,nuchal translucency（NT） enhancement group and parental balanced chromosome rearrangements group were 25.5%,19.0% and 17.2%,respectively,which were significantly different from other groups（P0.05）.Conclusion： The improvement of amniocytes cultured in vitro was more practicability,and karyotypes of amnioc fluid cells were more important for prenatal diagnosis.

关 键 词：羊水 细胞培养 核型分析 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]