应用荧光原位杂交技术快速诊断胎儿染色体数目异常  

Application of the Fluorescent in Situ Hybridization on the Prenatal Diagnosis of the Fetal Aneuploidy in the Uncultured Amniocytes

作　　者：戚庆炜[1] 孙念怙[1] 郝娜[1] 吴玉珍[1] 王凤云[1] 

机构地区：[1]中国医学科学院中国协和医科大学北京协和医院妇产科,100730

出　　处：《中华妇产科杂志》2000年第9期517-519,I012,共4页Chinese Journal of Obstetrics and Gynecology

摘　　要：目的　探讨荧光原位杂交 (fluorescentinsituhybridization ,FISH)技术在快速产前诊断胎儿染色体数目异常中的价值。方法　对 2 0例孕 16～ 36周、有产前诊断指征者 ,在B超引导下经腹抽取羊水后 ,应用X、Y、18号染色体着丝粒探针 13q14 q2 1和 2 1q11特异性探针 ,对未培养的羊水间期细胞进行FISH ,然后用荧光显微镜进行观察 ,并用AppliedImaging染色体成像系统进行摄像和后期处理。结果　 2 0例产前诊断者中 ,羊水间期细胞染色体数目正常者 19例 (XX 10例 ,XY 9例 ) ,染色体数目异常者 1例 (4 6 ,XY/ 47,XXY ) ,此例经引产后取脐血 ,经G带染色体检查证实。讨论　FISH用于羊膜腔穿刺后 2 4h内诊断胎儿染色体数目异常 ,快速。Objective To study the method and value of fluorescent in situ hybridization (FISH) on the rapid prenatal diagnosis of the fetal aneuploidy in the uncultured amniocytes. Methods Amniocentesis was performed in 20 pregnant women of 16～36 gestational weeks with indications of prenatal diagnosis. We performed FISH, respectively, with the biotin labelled chromosome X and 18 centromeric probes and the digoxin labelled chromosome Y centromeric and 21q11 and 13q14 q21 specific probes on the uncultured amniocytes. The slides were observed under the fluorescent microscope and the images were captured by the Applied Imaging System. Results Normal chromosome number was observed in 19 cases: 10 cases of 46, XX and 9 cases of 46, XY. Aneuploidy was found in 1 case which was 46, XY/ 47, XXY and proved by G banding chromosomal on cord blood. Conclusion Fetal aneuploidy could be diagnosed within 24 hours after the amniocentesis by FISH. FISH is a rapid, accurate and reliable method to detect fetal aneuphoidy in uncultured amniocytes.

关 键 词：荧光原位杂交 染色体异常 产前诊断 胎儿 

分 类 号：R394[医药卫生—医学遗传学]