[Establishment of lymphocyte cell lines with abnormal chromosome karyotypes and its application in external quality assesment for chromosome karyotype analysis].
OBJECTIVE
To develop chromosome abnormal karyotype quality control cell and to explore the external quality assessment (EQA) method for chromosome karyotype analysis.


METHODS
The chromosome abnormal karyotype quality control cells were prepared by EB virus (EBV) transfection of human B lymphocyte strain establishment and were distributed to participating labs for EQA test of chromosome karyotype analysis project at appointed time. The evaluation results were obtained through 4 grades scoring.


RESULTS
Six kinds of chromosome abnormal karyotype quality control cells were initially developed, the karyotypes of which 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 82.1%, 92.0%, 84.6%, 80.8%, 86.2%, 74.1% and the wholly deviation rate were 10.7%, 8.0%, 11.5%, 19.2%, 13.8%, 18.5%. The overall wholly overlapping rate, partial overlapping rate, partial deviation rate and wholly deviation rate turned out to be 83.2%, 0.6%, 2.5% and 13.7% respectively.


CONCLUSIONS
The misdiagnose rate of chromosome karyotype analysis is rather high and regular external quality assessment is necessary to achieve dynamic information and improve diagnosis quality.
Weng
Bin-huan
BH
Prenatal Diagnostic Center, Affiliated Hospital of Gynecology and Obstetrics, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310006 PR China. wbh1163@163.com
Cai
Jian-ping
JP
Wang
Xu-min
XM
You
Jian-fei
JF
Jin
Yi
Y
Wang
Xiao-hua
XH
D001402:B-Lymphocytes / Q000821:virology*; D002460:Cell Line; D002869:Chromosome Aberrations; D020223:Chromosome Painting; D004854:Herpesvirus 4, Human / Q000502:physiology*; D006801:Humans; D007621:Karyotyping / Q000379:methods*; D008214:Lymphocytes / Q000821:virology*