原位杂交技术用于快速诊断胎儿常见染色体数目异常的研究

目的评价荧光原位杂交技术在胎儿常见染色体数目异常快速诊断中的应用价值。方法应用13、18、2．1、X、Y染色体区域特异性DNA探针对50例具有产前诊断适应证孕妇的羊水中胎儿细胞进行原位杂交，每张玻片至少计数50个细胞。检测13、18、21、X、Y染色体变异情况。同时对羊水中胎儿细胞培养后行细胞遗传学染色体核型分析，以此监测对比荧光原位杂交结果的准确性。结果所测50份标本的13、18、21、X、Y染色体数目均与常规染色体核型分析的结果相符。其中，有1例检测结果显示为21-三体，与其产前血清学筛查结果、超声检查显示胎儿多发畸形以及羊水细胞培养染色体核型分析结果相符。结论荧光原位杂交技术检测过程简单、快速，特异性较强，且灵敏度较高，是一种可用于临床的快速产前诊断方法。

The study of rapid detection for number abnormality of fetus chromosome with FISH

Objective To evaluate the importance of Fluorescent in situ Hybridization Technique in the rapid count detection of abnormal fetus chromosome.Methods The interphase nuclei of amniotic fluid from 50 pregnant women according with the indication of prenatal diagnosis were detected by chromose-specific DNA probes of 13,18,21.X and Y chromosomes.The routine analysis of amniotic cells karyotypes also performed at the same time .Results Fifty cells must be counted on every slide as a minimum. Those samples for which the number of chromosomes 13, 18, 21, X and Y were concordant with diagnostic outcome of conventional chromosome karyotype analysis in the fifty samples. One sample has detected trisome 21 in all 50 samples, which is consistent with chromosome karyotype analysis, the outcome of prenatal screening and clinical situation of malformation by ultrasound.Conclusion FISH technique exhibits the characters of rapidness, simplicity, high specificity and sensitivity, so it is a reliable and a rapid technique for prenatal diagnosis.