【作者】 李红阁； 瞿阳； 罗玉琴；

【Author】 Li Hong-Ge;Qu Yang;Luo Yu-Qin;The Department of Reproductive Genetics,Women’s Hospital School of Medicine Zhejiang University;

【机构】 浙江大学医学院附属妇产科医院生殖遗传科；

【摘要】 目的:探讨应用荧光原位杂交(fluorescence in situ hybridization,FISH)技术和常规核型分析技术对羊水细胞行产前诊断的临床价值。方法:采用13、18、21、X和Y染色体特异性DNA探针对1156例产前诊断的孕妇未培养羊水细胞行FISH检测,同时对培养羊水细胞行常规核型分析。结果:(1)1156例羊水细胞培养成功1154例,培养失败2例,检出异常核型69例,其中结构异常核型38例,数目异常核型31例,报告时间平均为(22.49±6.12)d;(2)1156例未培养羊水细胞全部FISH检测成功,检出数目异常核型31例,与常规核型分析结果的一致率为100%,FISH检测平均报告时间为2~4d。结论:FISH检测具有快速、准确、用量少的优势,又避免了培养失败带来的检测失败,且与常规染色体核型分析的符合率高,弥补了仅靠常规核型分析产前诊断的不足和局限性。更多还原

【Abstract】 Objective:To analysis the clinical value of fluorescence in situ hybridization(FISH) and conventional karyotype analysis on prenatal diagnosis of amniotic fluid cells.Methods:Using 13,18,21,X and Y chromosome-specific DNA probe for the FISH detection of un-cultivated amniotic fluid cells on 1156 cases,while cultured amniotic fluid cells for the conventional karyotype analysis.Results(1) 1154 cases of amniotic fluid cells were cultured successfully and the other 2 cases were failed,of which the abnormal karyotypes was 69 cases.The structure abnormal karyotype was 38 cases and the number abnormal karyotype was 31 cases.The reported time on an average of(22.49 ± 6.12) d;(2) 1156 cases uncultured amniotic fluid cells all were tested successfully by FISH.The number abnormal karyotype was 31 cases,which was consistentd with the result of conventional karyotype analysis.The reported time on an average of 2 ~ 4d.Conclusion:FISH not only was faster,accurate,and less consumption as well as can avoid the risk of detection fail,but also was high accordance with conventional karyotype analysis.It maked up the shortcomings and limitations of conventional karyotype analysis on prenatal diagnosis.更多还原