论文部分内容阅读
目的探讨荧光原位杂交(FISH)产前诊断染色体数目异常的临床应用价值。方法对327例产前诊断孕妇的羊水进行FISH检测和染色体核型分析,将二者结果进行对照。结果 FISH检测均获得诊断结果,发现4例异常胎儿。3例为21-三体,1例为18-三体。与核型分析比较,除核型中1例46,XY[42]/47,XY,+8[12]嵌合体外,其余样本结果二者均一致。结论 FISH技术能够快速准确检测染色体数目异常,有较大临床应用价值。与传统核型分析相结合,可提高产前诊断的准确性和成功率。
Objective To investigate the clinical value of prenatal diagnosis of chromosomal abnormalities by fluorescence in situ hybridization (FISH). Methods 327 cases of prenatal diagnosis of amniotic fluid in pregnant women by FISH detection and chromosome karyotype analysis of the results of the two were compared. Results FISH test results were obtained and found 4 cases of abnormal fetus. 3 cases of 21-trisomy, 1 case of 18-trisomy. Compared with the karyotype analysis, the results of the other samples except the karyotype were identical in 46, XY [42] / 47, XY, + 8 [12] chimeras. Conclusion FISH technique can detect chromosomal abnormalities rapidly and accurately, and has great clinical value. Combined with traditional karyotyping, the accuracy and success rate of prenatal diagnosis can be improved.