国产13、18、21、X、Y五色探针在产前遗传病诊断中的应用价值

发布时间：2019-07-25 19:15

【摘要】：目的 探讨国产21,13,18,X,Y五色探针诊断胎儿最常见染色体疾病的应用价值。方法 采集101例孕周l4~22周孕妇羊水标本,应用国产检测试剂盒21,13,18,X,Y探针进行羊水间期细胞FISH检测,其结果与羊水细胞学染色体培养结果进行对照,计算其灵敏度、特异性、Kappa值等。结果 101例FISH检测全部成功,未见异常99例,发现2例异常核型:21三体嵌合体(47XX,+21/46XX),18三体(47,XY,+18)。并与细胞学染色体培养结果进行对照,所得结果均一致,符合率,灵敏度,特异性,kappa值,均为100%。结论国产五色荧光探针与羊水间期细胞杂交可快速诊断胎儿21,13,18,X和Y染色体数目异常。结果可疑者,要进行常规染色体核型分析。
[Abstract]:Objective to evaluate the value of domestic 21, 13, 18, X, Y five color probes in the diagnosis of fetal chromosome diseases. Methods amniotic fluid samples of 101 pregnant women with 14 to 22 weeks of gestation were collected and detected by domestic detection kit 21, 13, 18, X, Y probes. The results were compared with the results of amniotic fluid cell chromosome culture, and the sensitivity, specificity and Kappa value were calculated. Results all the 101 cases were successfully detected by FISH, and 99 cases were not abnormal. 2 cases of abnormal karyotype were found: 21 trisomy chimera (47XX, 21/46XX), 18 trisomy (47, XY, 18). Compared with the results of Cytology chromosome culture, the results were consistent, coincidence rate, sensitivity, specificity and kappa value, all of which were 100%. Conclusion domestic five-color fluorescence probe and amniotic fluid interphase cell crossing can quickly diagnose fetal 21, 13, 18, X and Y chromosome number abnormalities. Results routine karyotype analysis should be carried out in those who were suspected.
【作者单位】： 武汉大学人民医院产科;
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本文编号：2519296