我国产前染色体核型分析的室间质评调查结果分析  

Result survey analysis of prenatal chromosome karyotyping in an external quality assessment program

作　　者：王薇[1] 陈园园[2] 陈希[2] 钟堃[1] 何法霖[1] 张妍[1] 包黎明[2] 邹琳[2] 王治国[1] 

机构地区：[1]卫生部北京医院、卫生部临床检验中心,北京100730 [2]重庆医科大学附属儿童医院临床分子医学中心

出　　处：《中华医学遗传学杂志》2014年第4期483-486,共4页Chinese Journal of Medical Genetics

摘　　要：目的分析2013年全国产前染色体核型分析的室间质评调查的结果，为提高胎儿细胞染色体核型分析水平提供有价值的参考。方法向全国500家产前筛查实验室发放5个批号的质控细胞图片。自愿参加此次调查的实验室根据图片判断染色体是否异常、是何种类型的异常核型，并按照规定格式上报结果。组织者将参评实验室回报的核型结果直接与标准核型结果进行对照，作出对实验室检测水平的评价。结果有143家实验室回报了核型结果，组织者将各参评实验室回报的结果与标准核型结果47，XX，＋18、46，X，i（X）（q10）、46，XY，i（21）（q10）或46，XY，＋21，der（21；21）（q10；q10）、46，XY和47，XY，＋21进行对照及综合判断。每个批号的正确率分别为97．9％、97．2％、95．8％、100．0％和97．9％，总体正确率为97．7％；错误率分别为2．1％、2．8％、4．2％、0和2．1％，总体错误率为2．3％。结论本次调查的染色体核型分析中，部分批号存在着一定的误诊率，需要定期开展室间质量评价，以提高实验室染色体病产前诊断的水平。Objective To analyze the results of prenatal karyotype of the external quality assessment program in 2013 in order to provide references and recommendations for improving the capability and performances of karyotype analysis of prenatal screening laboratories. Methods Five lots of quality control cell photos were sent to 500 laboratories. The participants were asked to decide whether the photos have demonstrated any abnormal karyotype and determine the abnormal type. The results should be submitted before the deadline and compared with the standard results to evaluate the performances of the laboratory. Results One hundred forty three laboratories have returned their karyotype results for the survey. The standard answers were 47,XX,＋18, 46,X,i（X）（q10）, 46,XY,i（21）（q10） or 46,XY,-[-21,der（21;21） （q10;q10）, 46,XY and 47,XY,＋21 in sequential order, which were used to estimate the score of each participant. The pass rates for five lots were 97. 9%, 97. 2%, 95.8%, 100. 0% and 97.9%, respectively. The total pass rate was 97.7%. The error rates were 2.1%, 2.8%, 4.2%, 0 and 2.1%, respectively. The total error rate was 2.3%. Conclusion Some laboratories did not correctly identify the abnormal karyotypes, while some could not determine the right type of karyotype. The external quality assessment program of prenatal diagnosis of karyotype analysis should be conducted annually in order to improve the capability and performances of karyotype analysis of prenatal screening laboratories.

关 键 词：室间质评 产前筛查 染色体核型分析 正确率 

分 类 号：R714.5[医药卫生—妇产科学]