广西地区174例孕中晚期胎儿水肿综合征的染色体分析  

Karyotype analysis for 174 cases of hydrops fetalis in Guangxi region

作　　者：刘天盛[1] 费冬梅[1] 欧珊[1] 黄红倩[1] 欧阳鲁平 苏景玉 

机构地区：[1]广西壮族自治区妇幼保健院(妇产医院、儿童医院)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》2016年第3期53-54,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨胎儿水肿综合征与染色体异常的相关性,评价染色体检查在孕中晚期胎儿水肿查因中的应用价值,为临床遗传咨询提供参考指导。方法对174例产前超声筛查发现患胎儿水肿综合征的孕妇进行侵入性产前诊断,取羊水或脐带血进行细胞培养,制备染色体进行核型分析。结果总计174例样本,除7例细胞培养失败外,其余167例可以成功进行核型分析,共检出异常染色体核型52例,异常核型检出率为31.14%(52/167)。52例异常核型中21三体和18三体各9例,分别占异常核型比17.31%(9/52);13三体综合征4例,占比7.69%(4/52);特纳综合征26例(其中包括25例45,X和1例嵌合型45,X/46,XX)占50%(26/52);其他类型异常4例,占异常比7.69%。结论染色体异常与胎儿水肿有着非常密切的相关性,胎儿染色体检查可作为查找胎儿水肿原因的重要有效诊断手段,为临床提供参考。Objective：The purpose of this study was to explore the correlation of hydrops fetalis syndrome and chromosome abnormality,evaluate the Application value of karyotype analysis in finding the causes of hydrops fetalis,and provide a reference for clinical genetic counseling guidance. Methods：Invasive prenatal diagnosis and karyotype analysis to 174 cases fetus which were found with a hydrops fetalis by prenatal ultrasound screening.Results：A total of 174 cases of samples,7 cases were failed in cell culture,and 167 cases were successed in karyotype analysis. In total of 167 cases,52 cases of abnormal karyotype were detected,the abnormal karyotype detection rate was 31.14%（52/167）.Among them,both tri21 and tri18 are 9 cases, respectively accounted for 17.31%（9/52）;tri13 are 4 cases,accounted for 7.69%（4/52）;Turner syndrome were 26 cases（contains 25 cases 45,X and one case mosaics 45,X/46,XX）,accounting for 50.00%;and other types of abnormal were 4 cases,accounted for 7.69%.Conclusions：Chromosome abnormality has close correlation with hydrops fetalis,karyotype analysis can be used as one of an important and effective ways to find the cause of hydrops fetalis,provide reference for clinic.

关 键 词：胎儿水肿 染色体异常 核型分析 

分 类 号：R714.5[医药卫生—妇产科学]