染色体异常核型图像库在染色体核型分析室间质评中的应用 [中文引用][英文引用]

目的 建立染色体异常核型图像库，试验染色体核型分析室间质评的可行性。方法 采集经细胞遗传学或分子遗传学确诊的疑难、罕见、易误诊的染色体异常核型图，用常规染色体核型分析软件处理至最佳状态，将每6幅不同染色体异常核型作为1个组合单位，编入计算机，建立染色体异常核型图像库，从中选出核型图，发送给受试者作染色体核型分析，然后对反馈结果进行评价。结果  使用6幅染色体核型分别为46，X，t(Y;5)(q12;q21)；46，XY，15P⁺；46，XX，t(13;18)(q12;q21)；46，X，r(Xp)；46，X，t(Y;Y)；46，XX，t(9;20)(P13;p13)的图像对35家受试者作室间质评试验。经试验，各受试者反馈的相对应于上述6幅质控图排序的完全正确率分别为81.82%、78.13%、86.67%、78.79%、78.13%、90.32%，完全错误率分别为15.15%、21.88%、10.00%、18.18%、21.88%、6.45%，总的完全正确率、部分正确率、部分错误率和完全错误率分别为82.20%、0.52%、1.57%和15.71%。   结论  疑难、罕见染色体异常核型分析的准确性有待于进一步的提高；以疑难染色体异常核型图像作染色体核型分析室间质评是一种简便易行的方法。

Objective  To develop the simple and plactical external quality assessment(EQA) method for chromosome karyotype analysis by establishing the chromosome abnormal karyotype image banks and it’s quality control images. Method Typical metaphase images of rare chromosomal abnormalities were collected from the prenatal diagnosis laboratories of Women’s Hospital, School of Medicine, Zhejiang University. It was sent to the enrolled laboratories via emails. These laboratories then sent back their interpretation reports via emails after analyzing the chromosome images. The person in charge of the EQA scheme conducted the statistical analysis and the assessment of the reports from the laboratories. And he/she would inform the laboratories the evaluation results. This method was to test the feasibility of using EQA scheme of abnormal chromosome karyotypes to conduct simple external quality assessment of prenatal cytogenetic diagnosis. Results the karyotypes of six kinds of rare, or subtle, structural chromosome abnormal  karyotype were 46,X,t(Y;5)(q12;q21)；46,XY,15p+；46,XX,t(13;18)(q12;q21)；46,X,r(Xp)；46,X,t(Y;Y)；46,XX,t(9;20)(p13;p13) respectively. In the external quality assessment, feedbacks from the participating labs on the sequencing results of the six kinds of quality control cells showed that the wholly overlapping rate were 81.82%、78.13%、86.67%、78.79%、78.13%、90.32%, and the wholly deviation rate were 15.15%、21.88%、10.00%、18.18%、21.88%、6.45%.The wholly overlapping rate, partial overlapping rare, partial deviation rate and wholly deviation rate turned out to be 82.20%、0.52%、1.57%、15.71%. Conclusions The quality of the detection of rare chromosomal abnormalities still needs to be pmproved, and the metaphase images were suitable to be used as quality control materials