改进荧光原位杂交技术快速产前诊断常见染色体异常

Optimized procedure for fluorescence in situ hybridization in rapid prenatal diagnosis of common aneuploidy

目的探讨改进荧光原位杂交（fluorescenceinsituhybridization，FISH）技术，快速产前诊断羊水间期细胞常见染色体异常的临床应用可行性。方法改进FISH杂交过程的处理方法和探针杂交液用量，对300例羊水间期细胞进行FISH检测，以羊水细胞培养、核型分析作为结果验证。结果300例羊水样本，FISH检出17例异常：7例21三体、4例18三体、2例X、I例XXY、1例XXX、1例XYY、I例三倍体，与羊水细胞核型分析结果完全符合。结论改进FISH技术后检测的准确性、特异性没有受到影响，且检测成本明显降低，可以在临床推广应用于快速产前诊断常见染色体异常。

Objective To optimize the procedure of fluorescence in situ hybridization （FISH）, and evaluate it in rapid prenatal diagnosis of common aneuploidy. Methods Amniotic fluid samples from 300 pregnant women were tested by both interphase FISH and conventional cell culture for karyotyping from September 2009 and September 2010. Results Seven cases of trisomy 21, 4 of trisomy 18, 2 of monosomy X, 1 of XXY, 1 of XXX, and 1 of triploidy were detected by FISH in the 300 amniotic fluid samples. It was concordant with the results from conventional karyotype analysis. The concordance rate was 100%. Conclusion Through a technical modification of FISH procedure, the detection accuracy and specificity was not affected but testing cost reduced greatly. It can be used in rapid prenatal diagnosis of common aneuploidy.