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目的比较425例羊水染色体核型分析与染色体13,18,21,X和Y荧光原位杂交方法的结果,评估染色体13,18,21,X和Y荧光原位杂交作为染色体异常独立测试的安全性并分析漏诊染色体异常的类别。方法以染色体核型分析作为金标准,比较了2011年3-7月425例患者的羊水染色体核型分析与荧光原位杂交方法的结果。结果在425例患者中染色体核型分析共发现22例染色体异常(包括16例非整倍体)。染色体异常率为5.2%(22/425),非整倍体率为72.7%(16/22)。染色体13,18,21,X和Y荧光原位杂交方法共发现15例染色体异常,漏诊一例嵌合体。针对染色体13,18,21,X和Y,荧光原位杂交的敏感性和特异性分别为93.75%和100%,针对全部染色体时,荧光原位杂交的敏感性降到了68.2%而特异性仍为100%。荧光原位杂交漏诊的7例染色体异常分别为3例染色体易位,3例染色体到位,1例嵌合体。结论本研究不支持荧光原位杂交作为检测染色体异常的独立测试。
Objective To compare the results of 425 in situ hybridization of amniotic fluid chromosome with chromosome 13, 18, 21, X and Y fluorescence in situ hybridization to assess the safety of 13, 18, 21, X and Y fluorescence in situ hybridization as an independent test for chromosomal abnormalities Sex and analyze misdiagnosed chromosomal abnormalities. Methods Using karyotype analysis as the gold standard, the results of amniotic fluid karyotype analysis and fluorescence in situ hybridization in 425 patients from March to July in 2011 were compared. Results A total of 22 chromosomal abnormalities (including 16 aneuploidy) were found in 425 karyotypes. The rate of chromosomal abnormalities was 5.2% (22/425), aneuploidy rate was 72.7% (16/22). Chromosome 13, 18, 21, X and Y fluorescence in situ hybridization method were found in 15 cases of chromosomal abnormalities, missed a case of chimera. The sensitivity and specificity for fluorescence in situ hybridization for chromosomes 13, 18, 21, X and Y were 93.75% and 100%, respectively, and for all chromosomes, the sensitivity of fluorescence in situ hybridization was reduced to 68.2% It is 100%. Seven cases of chromosomal abnormalities missed by fluorescence in situ hybridization were 3 cases chromosomal translocations, 3 chromosomal cases and 1 chimera, respectively. Conclusion This study does not support fluorescence in situ hybridization as an independent test for detecting chromosomal abnormalities.