G-显带技术、荧光原位杂交和比较基因组杂交技术在产前诊断中的应用

The application and significance in prenatal diagnosis using G-banding, fluorescence in situ hybridization and comparative genomic hybridization

目的 探讨G显带、荧光原位杂交（fluorescence in situ hybridization，FISH）和比较基因组杂交（comparative genomic hybridization，CGH）技术在产前诊断中应用的程序及意义。方法 采集102例妊娠16周～24周胎儿的羊水，采用G显带、G显带／FISH和G显带／FISH／CGH三阶梯的核型诊断程序，并分析其在产前诊断中的意义。结果 102例胎儿中，经第1阶梯诊断核型98例，诊断困难2例，失败2例；第2阶梯诊断核型2例，诊断困难1例，失败1例；第3阶梯诊断核型2例。经3阶梯诊断程序核型的诊断率达100％（102／102例），异常核型7例（7／102例，6．68％），其中第1、第2和第3阶梯分别诊断异常核型4例（4／7例，57．1％）、1例（1／7例，14．3％）和2例（2／7例，28．5％）。结论 在产前诊断中实施3阶梯诊断程序有助干撂高核型的确诊率．规范染色体诊断流程。

Objective To investigate the procedure and the value of G-banding, fluorescence in situ hybridization （FISH） and comparative genomic hybridization （CGH） techniques in prenatal diagnosis. Methods Karyotype analyses with three diagnostic procedures, G-banding, G banding and FISH, G- banding, FISH and CGH, were performed in the amniotic fluid samples taken from 102 fetuses at gestational ages 16-24 weeks. And the significance was valued in prenatal diagnosis. Results In the first procedure of karyotype analysis, 98 cases were diagnosed, 2 cases were not conformed while 2 cases were failed in all 102 cases. In the second procedure, 2 cases were determined, 1 case was not conformed and 1 case was still failed. In the third step, 2 cases were diagnosed. The diagnostic rate of the karyotype reached to 100% （102/102 cases） using all the three procedures. In total, seven cases with chromosomal abnormality were diagnosed. Four cases, 1 case and 2 cases were identified in the first step （4/7, 57.1%）, the second （1/7, 14.3%） and the third （2/7, 28.5%）, respectively. Conclusion It can help improve the diagnostic rate of chromosomal aberrations and standardize diagnostic procedure to perform the three detecting steps in prenatal diagnosis.