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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。
Objective To investigate the value of domestic 21, 13, 18, X, Y five-color probes in the diagnosis of the most common chromosomal diseases in the fetus. Methods 101 pregnant women with gestational weeks l4 ~ 22 weeks of amniotic fluid samples were collected, using domestic test kit 21,13,18, X, Y probe amniotic fluid cell FISH detection, the results with amniotic fluid cytology chromosome culture results were compared, Calculate the sensitivity, specificity, Kappa value and so on. Results All 101 cases were successfully detected by FISH. No abnormality was found in 99 cases. Two abnormal karyotypes were found: trisomy 21 (47XX, + 21 / 46XX) and trisomy 18 (47, XY, + 18). The results were consistent with the results of cytological chromosome culture. The results were consistent, the coincidence rate, sensitivity, specificity and kappa value were 100%. Conclusion Domestic five-color fluorescent probe and amniotic fluid cell cycle hybridization can quickly diagnose fetal 21,13,18, X and Y chromosome number anomalies. Suspected results, to carry out conventional chromosome karyotyping.