基因测序仪(MGISEQ-2000)检测胎儿染色体非整倍体(T21)的性能评价  

Performance evaluation of gene sequencer(MGISEQ-2000)for fetal chromosome aneuploidy(T21)

作　　者：胡利清[1] 肖鸽飞[1] 黄武炎 张素粉 陈小艳 HU Li-qing;XIAO Ge-fei;HUANG Wu-yan(Department of Laboratory,Zhuhai Maternal and Child Health Hospital/Zhuhai Institute of Medical Genetics,Zhuhai 519001,China)

机构地区：[1]珠海市妇幼保健院检验科/珠海市医学遗传研究所,519001

出　　处：《中国实用医药》2022年第26期90-92,共3页China Practical Medicine

基　　金：珠海市科技计划项目(项目编号:ZH22036201210176PWC)。

摘　　要：目的评价基因测序仪(MGISEQ-2000)检测胎儿染色体非整倍体(T21)的性能。方法收集138例临床检验机构样本库中剩余的孕妇外周血血浆样本,其中纳入全分析集(FAS)138例、符合方案集(PPS)138例、安全性分析集(SS)138例。以染色体核型分析方法和出生随访结果为检测金标准,统计分析试验用基因测序仪诊断胎儿染色体非整倍体(T21)的灵敏度、特异度、总符合率以及与对比方法检测的一致性。结果PPS集中,基因测序仪检测胎儿染色体非整倍体的灵敏度为100%[95%CI=(85.13%,100.00%)]、特异度为100%[95%CI=(98.57%,100.00%)]、总符合率为100%[95%CI=(98.68%,100.00%)],Kappa(K)=1,McNemar近似(t=16.941,P<0.05),表明试验用医疗器械的检测结果与对比方法的结果具有较好的一致性。SS集中,试验期间无不良反应事件发生,无器械缺陷发生。结论基因测序仪(MGISEQ-2000)在临床上对来源于人体样本的脱氧核糖核酸(DNA)进行基因检测具有较好的有效性和安全性。Objective To evaluate the performance of gene sequencer(MGISEQ-2000)for fetal chromosome aneuploidy(T21).Methods 138 cases of peripheral blood plasma samples from pregnant women remaining in the sample bank of clinical testing facilities were collected,including 138 cases in full analysis set(FAS),138 cases in per-protocol set(PPS)and 138 cases in safety analysis set(SS).With the karyotype analysis method and birth follow-up results as the gold standard,the sensitivity,specificity,total coincidence rate and the consistency with the comparison method for the diagnosis of fetal chromosomal aneuploidy(T21)with the gene sequencer were statistically analyzed.Results In PPS,the sensitivity of the gene sequencer for detecting fetal chromosomal aneuploidy was 100%[95%CI=(85.13%,100.00%)],specificity was 100%[95%CI=(98.57%,100.00%)],overall agreement was 100%[95%CI=(98.68%,100.00%)],Kappa(K)=1,and McNemar’s approximate(t=16.941,P<0.05),indicating that the test results of the medical devices used in the trial were in good agreement with the results of the comparison method.In SS,no adverse reaction events and device defects occurred during the test.Conclusion The gene sequencer(MGISEQ-2000)has good efficacy and safety in clinical gene detection of deoxyribonucleic acid(DNA)from human body samples.

关 键 词：胎儿染色体非整倍体 脱氧核糖核酸 基因测序 

分 类 号：R714.5[医药卫生—妇产科学]