荧光原位杂交在产前诊断中的应用

Application of fluorescence in situ hybridization in prenatal diagnosis

目的分析荧光原位杂交分析技术(fluorescence in situ hybridization,FISH)在快速诊断羊水细胞染色体异常中的应用价值。方法以2013年6月至2017年12月间在首都医科大学附属北京妇产医院产前诊断中心接受羊水穿刺的1676名孕妇为研究对象,抽取羊水后同时进行荧光原位杂交分析和染色体核型分析,然后比对两种检测的检测结果。结果共收集1676名同时进行核型分析和FISH检测的孕妇检测结果。羊水穿刺指征包括:高龄(637例,38.1%)、唐氏筛查高危(699例,41.71%)、无创游离DNA检测高风险(315例,18.79%)、B超异常(16例,0.95%)等。FISH检测结果阳性240例(14.13%),包括21三体140例、18三体44例、13三体14例、性染色异常32例以及嵌合体10例。核型分析阳性252例,除包括上述240例FISH检测阳性结果外,还包括22号染色嵌合体1例、平衡结构重排6例、非平衡结构重排1例以及多态4例。结论FISH检测能够快速准确诊断21号、18号、13号以及性染色体数目异常,根据FISH结果可进行进一步临床处理。怀疑胎儿携带其他染色体异常时,需联合核型分析等方法综合使用。

Objective To explore application of fluorescence in situ hybridization(FISH)in fast diagnosing chromosomal aberration of amniotic cells.Methods The pregnant under going amniocentesis in Beijing Gynecology&Obsterics Hospital Capital Medical University from 2013 June to 2016 December were enrolled.Amniotic fluid cells of 1676 patients were analyzed by FISH and karyotype analysis.Results Indications of 1676 pregnant included:advanced maternal age(637,38.1%),high risk of serum screening(699,41.71%),high risk of cell fetal DNA testing(315,18.79%),abnormal results of B ultrasound(16,0.95%).About 240 patients got positive FISH results,including 140 trisomy 21,44 trisomy 18,14 trisomy 13,32 sex chromosomal aneuploidy and 10 mosaics.Among 1676 patients,252 patients got positive karyotype type,including 240 above positive FISH results,1 mosaic of chromosome 22,6 balanced chromosomal rearrangement,1 unbalanced chromosomal rearrangement and 4 polymorphism.Conclusion Chromosome 21,chromosome 18,chromosome 13 and sex chromosomal aneuploidy can be quickly diagnosed by FISH.However,karyotype analysis should be adopted in the other suspected chromosomal aberrations.