【摘要】：目的 探討國(guó)產(chǎn)21,13,18,X,Y五色探針診斷胎兒最常見染色體疾病的應(yīng)用價(jià)值。方法 采集101例孕周l4~22周孕婦羊水標(biāo)本,應(yīng)用國(guó)產(chǎn)檢測(cè)試劑盒21,13,18,X,Y探針進(jìn)行羊水間期細(xì)胞FISH檢測(cè),其結(jié)果與羊水細(xì)胞學(xué)染色體培養(yǎng)結(jié)果進(jìn)行對(duì)照,計(jì)算其靈敏度、特異性、Kappa值等。結(jié)果 101例FISH檢測(cè)全部成功,未見異常99例,發(fā)現(xiàn)2例異常核型:21三體嵌合體(47XX,+21/46XX),18三體(47,XY,+18)。并與細(xì)胞學(xué)染色體培養(yǎng)結(jié)果進(jìn)行對(duì)照,所得結(jié)果均一致,符合率,靈敏度,特異性,kappa值,均為100%。結(jié)論國(guó)產(chǎn)五色熒光探針與羊水間期細(xì)胞雜交可快速診斷胎兒21,13,18,X和Y染色體數(shù)目異常。結(jié)果可疑者,要進(jìn)行常規(guī)染色體核型分析。
[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.
【作者單位】： 武漢大學(xué)人民醫(yī)院產(chǎn)科;
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本文編號(hào)：2519296