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目的探讨改良荧光原位杂交技术在产前诊断中的应用。方法对孕18～24w孕妇,实施羊膜腔穿刺术抽取羊水,采用改良荧光原位杂交技术对羊水间期细胞进行染色体数目异常的检测。结果对符合产前诊断指征183例应用改良FISH技术,成功检测183例,成功率为100%。共发现6例染色体异常核型,检出率为3.28%。其中21-三体综合征3例,18-三体综合征1例,13-三体综合征1例,X单体1例。结论改良后的FISH技术明显缩短了检测时间,有效缓解了孕妇及其家属在等待结果中的焦虑和不安的心情,其高效、快速的优点在非整倍体染色体异常的产前诊断中具有重要的应用价值。
Objective To explore the application of modified fluorescence in situ hybridization in prenatal diagnosis. Methods Pregnant women aged 18 ~ 24 weeks, the amniocentesis was performed by amniocentesis, and the abnormal chromosome number was detected by modified fluorescence in situ hybridization. Results 183 cases of prenatal diagnosis indications using modified FISH technology, 183 cases were successfully detected, the success rate was 100%. A total of 6 cases of chromosomal abnormal karyotype were detected, the detection rate was 3.28%. Among them, 21 cases had trisomy syndrome in 3 cases, 18 cases had trisomy syndrome in 1 case, 13 cases had trisomy syndrome in 1 case and 1 case had X syndrome. Conclusion The improved FISH technique significantly shortens the detection time and effectively relieves the anxiety and uneasiness of pregnant women and their families in waiting for results. The advantages of high efficiency and rapidity are important in prenatal diagnosis of aneuploidy chromosomal abnormalities The application value.