【摘要】 目的探讨与羊水细胞染色体核型分析相比,荧光原位杂交(fluorescence in situ hybridization,FISH)技术在产前诊断中的优缺点及临床应用价值。方法对2009年1月至2010年2月华中科技大学同济医学院附属同济医院208例孕妇抽取羊水体外培养后进行染色体核型分析,其中53例同时应用FISH技术直接对间期核细胞进行13、18、21、X、Y的染色体数目检测。结果 (1)208例中,共完成羊水细胞核型分析199例,诊断成功率为95.7%(199/208),其中异常染色体核型占8.04%(16/199),报告时间平均为(22.49±6.12)d。(2)同时进行核型分析和FISH检测的53例患者,核型分析及FISH诊断成功率均为100%,共发现染色体异常4例,占7.55%(4/53);其中结构异常3例(经核型分析诊断)、数目异常1例(核型分析及FISH均诊断成功)。(3)在染色体数目的诊断上,53例的FISH检测与染色体核型分析的一致率为100%,平均报告时间为2～4d。结论 (1)FISH技术应用于产前诊断染色体数目异常,成功率高,准确可靠,较常规核型分析方法有效缩短报告时间。(2)对于可能存在染色体结构异常的患者,单纯使用FISH将发生漏诊。(3)FISH不能完全替代常规染色体核型分析,疑有染色体结构异常者,必须同时行羊水细胞染色体核型分析。更多还原

【Abstract】 Objective To evaluate clinical application value of fluorescence in situ hybridization,compared with karyotype analysis of cells from amniotic fluid.Methods 208 pregnant women were taken amniotic fluid for karyotype analysis,of which 53 cases for FISH.Results The success rate of karyotype analysis in 208 cases was 95.7%,abnormal karyotype accounted for 8.04%,and the average report time was(22.49±6.12)days.The success rate of FISH in 53 cases was 100%,and the report time was 2~4 days.In the 53 cases,the FISH results were consistent with karyotype analysis.Conclusion FISH is a rapid and accurate method for prenatal diagnosis of chromosome aneuploidies,but it can’t completely replace the conventional chromosome karyotype analysis.If structural abnormalitie of chromosome was suspected to be,amniotic fluid cell cultures and karyotype analysis must be performed at the same time.更多还原