FISH技术在产前诊断中的应用研究

The application of FISH technology in prenatal diagnosis

目的探讨FISH技术在产前诊断中的应用特点。方法采用着丝粒、专一序列探针（13、18、21、X、Y）对产前诊断孕妇的羊水细胞进行FISH检测,并与常规细胞遗传学方法检测结果进行对比。结果孕中期产前诊断的6 617例孕妇,FISH技术发现195例胎儿染色体异常,其中21-三体111例,18-三体26例,13-三体3例,三倍体1例,47,XXY 13例,45,XO 6例,47,XXX 9例,47,XYY 10例,嵌合体16例,在着丝粒、专一序列探针FISH技术检测的范围内,其结果与常规细胞遗传学方法检测结果基本一致,在FISH技术检测出的1例低比例45,X/46,XX嵌合病例中,常规细胞遗传学方法检测未见异常。另外,常规细胞遗传学方法检测出169例染色体结构异常及13、18、21、X、Y染色体以外的数目异常的病例,FISH技术未能发现。结论FISH技术在产前诊断中具有快速简便,准确性高,可靠性强的特点,在孕周偏大羊水培养成功率较低的病例中,尤其在嵌合体病例的诊断中具有优势。但是,目前商品化的产前诊断着丝粒、专一序列FISH探针对染色体结构异常无法检测。因此,FISH技术具有一定的局限性,产前诊断中选择FISH技术要有相应使用指征。

Objective To explore the application of FISH technology in prenatal diagnosis. Methods Chromosome 13, 21, single sequence probes and centromere probes of 18, X and Y chromosome probes were used in prenatal diagnosis. The results were compared with conventional cytogenetics. Results 6 617 pregnant women were diagnosed in the midterm pregnancy. 195 cases of fetal chromosomal abnormalities were found by FISH technology, including 21 trisomy 111 cases, 18 trisomy 26 cases, 13 triploid 3 cases, triploid 1 case,（47, XXY） 13 cases,（45, XO） 6 cases,（47, XXX） 9 cases,（47, XXY） 10 cases, chimerism 16 cases. The routine cell remains within the range of FISH technology were detected. The results of the test were basically the same. In a low proportion of 45, X/46, XX chimeric cases detected by FISH technology, the results of routine cell analyzing were not abnormal. 169 cases of chromosomal structural abnormalities and in addition to 13, 18, 21, X, Y chromosome number abnormal were detected by conventional cytogenetic methods. Conclusions FISH technology has the characteristics of rapid, simple, reliable and high accuracy in prenatal diagnosis, with an especial advantage in the diagnosis of chimerism cases. However, FISH technology cannot detect chromosomal structures. Therefore, FISH technology has certain limitations, and the selection of FISH technology in prenatal diagnosis should have corresponding use indications.