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目的探讨荧光原位杂交(FISH)技术在羊水胎儿染色体非整倍体产前诊断中的应用。方法对188例孕18-23周有产前诊断指征的孕妇选用13、18、21、X、Y特异性探针进行羊水间期细胞分析,并与羊水细胞中期细胞培养结果进行对照。结果在188例羊水FISH检测中均检测成功,其中正常核型175例,数目异常核型3例,与中期羊水染色体细胞培养结果一致,另有5例正常变异,5例结构异常FISH技术未能检出。结论荧光原位杂交(FISH)技术检测羊水胎儿染色体数目异常过程简单、快速、灵敏度较高、特异性较强,对于非整倍体产前诊断具有重要意义。
Objective To investigate the application of fluorescence in situ hybridization (FISH) in the prenatal diagnosis of amniotic fluid aneuploidy. Methods A total of 188 pregnant women with prenatal diagnosis indications for 18-23 weeks of gestation were selected for amniotic fluid phase cell analysis with 13, 18, 21, X, Y specific probes. The results were compared with the results of mid-term cell culture of amniotic fluid cells. The results of 188 cases of amniotic fluid FISH detection were detected in succession, of which 175 cases of normal karyotype, the number of abnormal karyotype in 3 cases, consistent with the results of mid-term amniotic fluid cell culture, and another 5 cases of normal mutation, 5 cases of structural abnormalities FISH failed Check out. Conclusion Fluorescence in situ hybridization (FISH) is a simple, rapid, sensitive and specific method for the detection of anomalous chromosomes in fetal amniotic fluid. It is of great significance for prenatal diagnosis of aneuploidy.