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目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)技术结合羊水细胞培养在检测胎儿染色体异常中的临床应用价值。方法用FISH技术检测322例孕17-28周孕妇的未培养羊水细胞,同时进行常规羊水细胞培养核型分析,将两者结果进行对照分析。结果 322例未培养羊水细胞FISH检测成功321例,其中检出正常303例,数目异常18例,与常规细胞培养核型分析结果一致,另外4例正常变异、1例嵌合体以及1例罗伯逊易位型21三体未被FISH技术检测出。结论 FISH技术检测未培养羊水细胞染色体数目异常具有快速、简便、所用样本量少的优势,可以作为羊水细胞染色体核型分析的补充,但对于检测同源罗伯逊易位型21三体有一定局限性。
Objective To investigate the clinical value of fluorescence in situ hybridization (FISH) combined with amniotic fluid cell culture in the detection of fetal chromosomal abnormalities. Methods FISH technique was used to detect uncultured amniotic fluid cells in 322 pregnant women with gestational age of 17-28 weeks. At the same time, routine karyotype analysis of amniotic fluid cell culture was carried out, and the results of the two methods were analyzed comparatively. Results 322 cases of uncultured amniotic fluid cells by FISH were successfully detected in 321 cases, of which 303 cases were normal, the number of abnormalities in 18 cases, with conventional cell culture karyotype analysis results, the other 4 cases of normal mutation, 1 case of chimerism and 1 case of Robertson Type 21 trisomy is not detected by FISH technique. Conclusion The detection of un-cultured amniotic fluid cells by FISH has the advantages of fast, simple and small sample size, which can be used as a complement to karyotype analysis of amniotic fluid cells. However, it has some limitations for detecting the trisomy of homologous Robertson’s translocation .