多种染色体鉴定技术在产前诊断中的应用探讨  

A variety of chromosome identification technologies application in prenatal diagnosis

作　　者：杨育青[1] 陈珍梅 张志坚[1] 韦华[1] 

机构地区：[1]福建医科大学附属漳州市医院,福建漳州363000 [2]漳州市人民医院,福建漳州363000

出　　处：《基层医学论坛》2017年第7期782-784,F0003,共4页The Medical Forum

摘　　要：目的探讨多种染色体鉴定技术在产前诊断中的应用情况。方法抽取3名孕妇的羊水标本行常规细胞培养和染色体制备,用常规G显带(320条带)对染色体核型进行鉴定;根据核型鉴定结果,选择相应的技术(荧光原位杂交和/或单核苷酸多态性微阵列)进一步分析。结果 3个羊水标本的染色体核型分别为:47,XX,+18,46,XY,t(5;13)(p15.2;q32)和arr[hg19]17p12(14,094,634-15,427,478)x3。结论产前诊断需要应用多种技术组合进行染色体鉴定。Objective To discuss the clinical application of various chromosome identification technologies in prenatal diagnosis. Methods Conventional amniotic fluid cell culture and chromosome preparation from three pregnant women.conventional G banding （320 stripe） techniques to analysis the karyotype of amniotic fluid cell;according to the result of karyotype identification, select the corresponding technologies （such as fluorescent in situ hybridization, FISH and SNP-array） to further analysis.Results The chromosome karyotype of three amniotic fluid specimens are 47, XX, ＋18,46,XY,t （5 ; 13） （p15.2;q32） and arr [hgl9]17pl2 （ 14,094,634-15,427,478）x3 ,respectively. Conclusions Prenatal diagnosis need to apply a variety of techniques to identify the chromosome.

关 键 词：产前诊断 染色体鉴定 荧光原位杂交 单核苷酸多态性微阵列 

分 类 号：R714.5[医药卫生—妇产科学]