荧光染色体原位杂交技术在产前诊断中的应用  

Clinical application of fluorescence in situ hybridization for prenatal diagnosis

作　　者：姜淑芳[1] 高志英[1] 卢彦平[1] 张咏梅[2] 付玉荣[1] 张立文[1] 张全[1] 李亚里[1] 

机构地区：[1]解放军总医院妇产科,北京100853 [2]武警总医院妇产科,北京100039

出　　处：《解放军医学杂志》2012年第7期711-714,共4页Medical Journal of Chinese People's Liberation Army

摘　　要：目的建立并优化荧光染色体原位杂交技术并评价其在胎儿21、18、13、X和Y染色体数目异常产前诊断中的临床应用价值。方法常规穿刺取羊水或脐带血样本196例,经低渗、固定、制片、老化等,直接利用两组特异性探针(GLP 13/GLP 21和CSP18/CSP X/CSP Y)进行原位杂交,快速检测羊水或脐带血细胞中21、18、13、X和Y染色体的数目,并同时对样本进行经典的细胞培养和染色体核型分析。结果以≥90%的细胞显示的荧光信号点数目作为染色体数目的判断标准,正常情况下GLP 13/GLP 21探针组显示2个绿色荧光点/2个红色荧光点,CSP18/CSP X/CSP Y探针组显示2个蓝绿色荧光点/2个黄色荧光点(女性)或者2个蓝色荧光点/1个黄色荧光点/1个红色荧光点(男性)。196例羊水或脐血均在72～96h内给出报告,检出21三体综合征7例、18三体综合征2例、性染色体异常(47,XYY)1例,与1个月后报告的染色体核型分析结果一致。结论荧光染色体原位杂交方法可用于快速产前诊断胎儿21、18、13、X、Y染色体数目异常,与常规的染色体核型分析技术结合,可快速准确地检测胎儿染色体的非整倍体异常。Objective To establish and optimize the procedures of fluorescence in situ hybridization（FISH）,and to evaluate its clinical value in rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21,18,13,X,Y.Methods Amniotic fluid or fetal blood was sampled by routine invasive procedures.After the amniotic fluid cells or fetal blood cells were isolated and sequentially processed with hypotonic solution,fixation solution,smear and high temperature,they were hybridized in situ with two panels of specific fluorescence probes to detect numerical abnormality of chromosomes 21,18,13,X,Y.All the samples were also cultured and analyzed for their karyotype by conventional methods.Results When it was used as a diagnostic criterion of chromosomal number that the fluorescence signals were observed in ≥90% cells,GLP 13/GLP 21 probe panel showed 2 green/2 red fluorescence signals and CSP18/CSP X/CSP Y probe panel showed 2 blue/2 yellow（female） or 2 blue/1 yellow/1 red fluorescence signals（male） under normal condition.The test reports of all 196 cases were sent out in 72-96 hours,and 7 cases of Down syndrome,2 cases of trisomy 18,and 1 case of sex chromosomal numerical abnormality were detected,which were accordant with karyotype analysis results reported one month later.Conclusions FISH posesses the potential for clinical application,and is applicable to rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21,18,13,X,Y.The rapid FISH,in combination with conventional karyotyping,offers a valuable means for prenatal diagnosis of fetal aneuploidies.

关 键 词：原位杂交 荧光 产前诊断 非整倍性 

分 类 号：R714.5[医药卫生—妇产科学]