优化荧光原位杂交技术产前诊断常见染色体异常

Optimized procedure for fluorescence in situ hybridization in prenatal diagnosis of common aneuplidy

目的优化荧光原位杂交(fluorescence in situ hybridization,FISH)技术,探讨FISH在快速诊断羊水间期细胞常见染色体异常的临床应用。方法改良FISH操作方法与探针用量,对510例孕妇羊水样本同时进行FISH快速产前诊断和常规细胞培养核型分析。结果 510例羊水样本中,FISH检测出了10例异常,其中7例21-三体、1例18-三体、1例45,X、1例47,XXX,与染色体核型分析结果相一致。结论改良后的FISH技术准确性与特异性与原方法相当,且节约成本。FISH技术可应用于临床快速产前诊断常见染色体非整倍体异常。

Objective： To optimize the procedure of fluorescence in situ hybridization （FISH） and to explore the clinical application of FISH to rapid prenatal diagnosis of common chromosomal abnormalities. Methods： Amniotic fluid samples from 510 pregnant women were studied with rapid prenatal diagnosis method of FISH and the conventional cell culture for karyotyping by improving the method of procedure and quantity of probe. Results： Seven cases of trisomy 21, 1 of trisomy 18, 1 of monosomy X, 1 of XXX were detected by FISH in the 510 amniotic fluid samples. It was concordant with the results from conventional karyotype analysis. Conclusion： Through a technical modification of FISH procedure, the detection accuracy and specificity was the same as before while the orice is low. FISH can be u.~ed for rapid prenatal diagnosis of common aneuploidy.