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目的探讨荧光原位杂交技术在产前诊断非整倍体的临床应用范围。方法应用细胞遗传学方法,常规羊水细胞培养,制备G显带染色体核型,计数分析20个细胞,分析3个分裂期染色体核型,必要时计数100个细胞核型。应用13,18,21,X,Y探针,进行未培养羊水的FISH检测。结果 481例羊水FISH分析成功率100%,细胞学染色体分析成功率98.5%,21、13、18、X和Y五种染色体非整倍体异常,FISH与染色体核型分析诊断结果完全一致,符合率100%。结论 FISH探针对21,13,18,X和Y 5种染色体进行产前诊断,能有效检测出间期羊水细胞的非整倍体异常,与传统核型分析结果相比FISH技术具有快速、成功率高的优势,技术成熟。FISH诊断可补救细胞学羊水取材量少及培养失败的不足,且具有判定部分额外染色体来源性质的优势。
Objective To investigate the clinical application of fluorescence in situ hybridization in prenatal diagnosis of aneuploidy. Methods Cytogenetics and routine amniotic fluid cell culture were used to prepare G - banding karyotypes. Twenty chromosomes were counted and analyzed. Three karyotypes of chromosomes were analyzed, and 100 karyotypes were counted when necessary. FISH detection of uncultured amniotic fluid was performed using 13, 18, 21, X, Y probes. Results 481 cases of amniotic fluid FISH analysis of success rate of 100%, cytological analysis of 98.5% success rate of chromosomes, 21,13,18, X and Y five aneuploidy chromosome abnormalities, FISH and chromosome karyotype analysis of diagnostic results are consistent with Rate of 100%. Conclusion FISH probe can diagnose aneuploidy of interphase amniotic fluid cells in prenatal diagnosis of 21, 13, 18, X and Y chromosomes. Compared with traditional karyotype analysis, FISH probe has the advantages of fast, The advantage of high success rate, mature technology. FISH diagnosis can remedy cytological lack of amniotic fluid intake and lack of culture failure, and has the advantage of determining the nature of some extra chromosomes.