荧光原位杂交检测在产前诊断中的临床价值  

The application of fluorescent in situ hybridization (FISH) in prenatal diagnosis.

作　　者：肖云山[1] 张静引[2] 

机构地区：[1]同济大学附属第一妇婴保健院产前诊断中心,上海200040 [2]南京医科大学第一附属医院妇产科,南京210000

出　　处：《中国优生与遗传杂志》2010年第3期57-58,F0004,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨运用羊水间期细胞开展荧光原位杂交检测在产前诊断中的临床价值。方法运用FISH技术对110例孕16～24周孕妇的羊水间期细胞进行检测，每例均进行常规染色体核型分析。结果运用FISH法，所有样本均在19h内获得检测结果，除2例羊水培养失败外，所有样本均取得染色体核型分析报告结果。两种方法均检出特氏综合征、21-三体综合征各1例，所有样本的两种方法检测结果均互相符合。常规染色体核型分析有2例异常，因缺乏相应DNA探针。FISH法未能检出。结论运用羊水间期细胞开展荧光原位杂交检测，缩短了诊断时间，缓解了孕妇及家属因等待检测结果所产生的焦虑心情。检测程序简单，结果判定明确，在产前诊断实施过程中具有重要的临床价值。Objective： To study fluorescent in situ hybridization （FISH） on interphase nuclei of amniotic fluid in prenatal diagnosis. Methods： The interphase nuclei of amniotic fluid from 110 pregnant women with 16 - 24 gestational weeks were detected by chromosome - specific DNA probes of 13, 18, 21, X and Y chromosomes. The routine karyotypes analysis was performed at same time. Results： The FISH diagnosis of all 110 species was achieved in 19h, while 108 chromosome karyotypes diagnosis acquired in 3 weeks, since failed cell culture occurred in 2 amniotic fluid cases. For the two methods, the diagnosis of all cases matched perfectly. Chromosome abnormality was found in 2 cases through both the two methods. 2 abnormal cases were found in chromosome karyotypes a- nalysis only, since the results is beyond the FISH diagnosis. Conclusion： The improved FISH technology has shortened the time to diagnosis, which would ease the anxiety of the pregnant women and their family members ; moreover, it holds an important clinical value for its efficient, time - saving and wide range of samples tested.

关 键 词：荧光原位杂交 染色体异常 产前诊断 羊水 

分 类 号：R714.5[医药卫生—妇产科学]