荧光原位杂交技术在产前诊断的应用价值  

Application value of fluorescence in situ hybridization in prenatal diagnosis

作　　者：赵旭亮[1] 张曼[1] 贾建安 

机构地区：[1]解放军105医院检验科,安徽合肥230031

出　　处：《中国优生与遗传杂志》2018年第2期31-32,45,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的研究荧光原位杂交(FISH)技术对诊断胎儿染色体异常的临床应用。方法有654例孕妇自2016年6月至2017年7月在我院进行产前诊断,利用FISH技术和细胞染色体核型分析对获取的脐带血细胞遗传物质的分析。结果 654例孕妇经细胞染色体核型分析和FISH技术均发现16例为21-三体综合症;8例为18-三体综合症;染色体核型分析发现平衡易位6例,倒位2例,FISH技术未检出染色体结构异常。结论 FISH技术对胎儿染色体数目异常敏感性较高,对于染色体结构变异的检测有一定局限性。Objective：To study the application of FISH in the diagnosis of chromosomal diseases. Methods：654 pregnant women were diagnosed in our hospital from June 2016 to July 2017,and the genetic substances of cord blood cells were analyzed by FISH and cytogenetic analysis. Results：karyotype analysis and FISH technique revealed trisomy 21-syndrome and trisomy 18-syndrome were 16 cases and 8 cases respectively. karyotype analysis also found 6 cases of balanced translocation and 2 cases of inversion,which were not detected by FISH technique. Conclusion：FISH technique can rapidly and accurately diagnose the number of abnormal chromosomes in fetuses,and has some limitations in the detection of chromosomal structural variations.

关 键 词：荧光原位杂交 产前诊断 染色体异常 

分 类 号：R714.55[医药卫生—妇产科学]