荧光原位杂交技术在快速产前诊断胎儿染色体非整倍体中的应用

发布时间：2018-04-18 12:02

本文选题：产前诊断 + 快速诊断　；参考：《上海医学》2015年11期

【摘要】：目的探讨荧光原位杂交技术(FISH)在快速产前诊断胎儿染色体非整倍体中的临床应用。方法选用13、21、18、X、Y特异性探针对126例孕11~32周具有产前诊断指征的孕妇的绒毛(10例)、羊水(82例)和脐血(34例)细胞进行分析,并同时进行细胞培养,对染色体核型分析结果进行对照。结果 126例标本的FISH检测均成功。检出核型与传统细胞染色体核型分析结果一致:正常核型121例;异常核型5例,其中2例21-三体,1例18-三体,2例45,X(Turner综合征)。结论 FISH可对胎儿绒毛、羊水、脐血的常见染色体非整倍体作出快速、准确的产前诊断,可减轻孕妇等待产前诊断结果的焦虑心理,有较好的临床应用价值。
[Abstract]:Objective to investigate the clinical application of fluorescence in situ hybridization (fish) in the rapid prenatal diagnosis of fetal chromosome aneuploidy.Methods the chorionic villus (10 cases) and amniotic fluid (82 cases) and umbilical cord blood (34 cases) cells of 126 pregnant women with prenatal diagnosis at 1132 weeks were analyzed with the specific probe 1321D ~ (18) XY. The results of chromosome karyotype analysis were compared with the results of chromosome karyotype analysis at the same time.Results all the 126 specimens were detected successfully by FISH.The results of karyotype analysis were consistent with that of traditional cell karyotype analysis: normal karyotype 121 cases, abnormal karyotype 5 cases, including 2 cases of 21 trisomy 1 case of 18 trisomy 2 cases of 45 cases of TX Turner syndrome.Conclusion FISH can make rapid and accurate prenatal diagnosis of common chromosomal aneuploidy in fetal villi amniotic fluid and umbilical cord blood. It can alleviate the anxiety of pregnant women waiting for the result of prenatal diagnosis and has good clinical application value.
【作者单位】：佛山市第一人民医院产前诊断中心;
【基金】：佛山市卫生和计划生育委员会医学科研课题资助项目(2015249)
【分类号】：R714.5

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