Jobanputra Vaideji, Roy Kalol Kumar, Kucheria Kiran
Department of Anatomy, All India Institute of Medical Sciences, New Delhi 110 029, India.
J Biosci. 2002 Mar;27(2):155-63. doi: 10.1007/BF02703772.
Fluorescence in situ hybridization (FISH) is a powerful molecular cytogenetic technique which allows rapid detection of aneuploidies on interphase cells and metaphase spreads. The aim of the present study was to evaluate FISH as a tool in prenatal diagnosis of aneuploidies in high risk pregnancies in an Indian set up. Prenatal diagnosis was carried out in 88 high-risk pregnancies using FISH and cytogenetic analysis. Multicolour commercially available FISH probes specific for chromosomes 13, 18, 21, X and Y were used. Interphase FISH was done on uncultured cells from chorionic villus and amniotic fluid samples. FISH on metaphase spreads was done from cord blood samples. The results of FISH were in conformity with the results of cytogenetic analysis in all the normal and aneuploid cases except in one case of structural chromosomal abnormality. The hybridization efficiency of the 5 probes used for the detection of aneuploidies was 100%. Using these probes FISH assay yielded discrete differences in the signal profiles between cytogenetically normal and abnormal samples. The overall mean interphase disomic signal patterns of chromosomes 13, 18, 21, X and Y were 94.45%; for interphase trisomic signal pattern of chromosome 21 was 97.3%. Interphase FISH is very useful in urgent high risk cases. The use of FISH overcomes the difficulties of conventional banding on metaphase spreads and reduces the time of reporting. However, with the limited number of probes used, the conventional cytogenetic analysis serves as a gold standard at present. It should be employed as an adjunctive tool to conventional cytogenetics.
荧光原位杂交（FISH）是一种强大的分子细胞遗传学技术，可快速检测间期细胞和中期染色体铺展中的非整倍体。本研究的目的是评估FISH作为印度高危妊娠中染色体非整倍体产前诊断工具的价值。使用FISH和细胞遗传学分析对88例高危妊娠进行了产前诊断。使用了针对13、18、21、X和Y染色体的多色商用FISH探针。对绒毛膜绒毛和羊水样本中的未培养细胞进行间期FISH检测。对脐血样本进行中期染色体铺展的FISH检测。除了1例结构染色体异常病例外，FISH结果与所有正常和非整倍体病例的细胞遗传学分析结果一致。用于检测非整倍体的5种探针的杂交效率为100%。使用这些探针，FISH检测在细胞遗传学正常和异常样本的信号图谱之间产生了明显差异。13、18、21、X和Y染色体的间期二体信号模式总体平均为94.45%；21号染色体的间期三体信号模式为97.3%。间期FISH在紧急高危病例中非常有用。FISH的使用克服了中期染色体铺展常规显带的困难，并缩短了报告时间。然而，由于使用的探针数量有限，目前传统细胞遗传学分析仍是金标准。它应作为传统细胞遗传学的辅助工具使用。
