FISH技术在快速诊断自然流产胚胎染色体数目异常中的应用

Rapid detection of chromosome number aberration in spontaneously aborted fetuses using fluorescence in situ hybridization

目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)技术在快速诊断自然流产胚胎染色体数目异常的应用价值。方法选择100例早期自然流产胚胎或绒毛进行染色体核型分析,同时应用FISH技术针对高发的13、16、18、21、22、X/Y号染色体进行染色体数目检测,并以染色体核型分析为"金标准"进行FISH方法的评估。结果 100例标本中,FISH诊断流产绒毛染色体数目异常39例,非整倍体异常32例,多倍体异常7例;与核型分析相比,2例细胞培养失败的标本通过FISH检测,诊断为16三体,3例标本染色体核型分析诊断为46,XX,经FISH检测发现2例为22三体,1例为46,XY,经其他方法检测,结果与FISH诊断结果相符。两方法进行Kappa检验分析,κ系数=0.735>0.7,P=0.000<0.05,说明FISH方法与染色体核型分析吻合度有统计学意义且较强。结论 FISH技术是一种快速的细胞分子诊断技术,建议经济承受力较强的流产患者在进行流产绒毛染色体核型分析的同时行FISH检查。

Objective To assess the value of fluorescence in situ hybridization（FISH） in the diagnosis of common chromosome number aberration in spontaneously aborted fetuses.Method A total of 100 spontaneously aborted fetuses were analyzed by G-banding and by FISH to test chromosome number aberration mainly for chromosomes 13,18,21,X and Y,and the results of FISH test was assessed according to those by G-banding test.Results FISH results were well consistent with those by G-banding test.FISH test identified trisomy in 32 samples and polyploidy in 7 samples.Two samples with cell culture failure were found to have trisomy 16 by FISH.Discrepancies in the results between the two tests occurred in 3 samples,but the results of FISH were verified by other methods.Kappa test between FISH technology and G-banding showed a good consistency between FISH and karyotyping（P〈0.05）.Conclusion FISH is an effective and rapid method for detecting chromosome number aberration in spontaneously aborted fetuses,and the combination of FISH and karyotyping provides more reliable diagnostic evidence.