【目的】 了解我国目前新生儿遗传代谢病筛查(以下简称新筛)实验室葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)检测能力。 【方法】 参照中华人民共和国国家标准GB/T 20470-2006《临床实验室室间质量评价要求》,2011年分别向全国58家及70家新筛实验室邮寄2个批号(第1次)和5个批号(第2次)G6PD干血斑质控物,要求实验室回报G6PD定量测定结果(U/gHb)、临床判断(阴/阳性)、切值来源和切值信息,组织者对所有有效回报的结果进行统计分析,评价实验室检测水平。 【结果】 两次调查结果的回报率分别为86.2%(50/58)和74.3%(52/70)。以试剂进行分组,G6PD定量检测各批号离散度很大,试剂厂家1组和2组的7个批号变异系数较大,分别在10.67%~26.77%和69.17%~89.92%之间;稳健变异系数分布在5.38%~44.00%和102.37%~144.99%之间。两次G6PD临床判断调查可接受的百分比为91.7%和94.0%;而两次定量结果调查合格的百分比为53.7%和74.5%。 【结论】 本年度筛查实验室间调查结果的变异系数较大,G6PD定量测定结果的可接受率较低。通过开展全国新生儿遗传代谢病筛查G6PD 质评计划来提高全国新筛实验室临床检测质量水平,保证新生儿遗传代谢性疾病工作质量,从而提高我国出生人口素质。

【Objective】 To investigate the test capability of G6PD for newborn screening laboratories. 【Methods】 According to China National Standard GB/T20470-2006 the requirements for external quality assessment (EQA) in clinical laboratory,2 of lots of G6PD dry blood filter paper for the first time and 5 for the second were sent to 58 and 70 newborn screening laboratories respectively.The feedback information which had been statistically analysed,included: results of G6PD quantitative test (unit:U/gHb),clinical judgment (Positive-negative),resources and information of cut off value.The capability of every laboratory that sent valid information had been evaluated. 【Results】 The valid feedback rate were 86.2% (50/58) and 74.3% (52/70) respectively.Stratified study by reagents indicated that the dispersions of every lot were significant large,for all the 7 lots the CVs (Coefficient of variations) were from 10.67% to 26.77% for that first time but 69.17% to 89.92% for another;robust CVs were from 5.38% to 44.00% and 102.37% to 144.99%.The pass rate of qualitative test were 91.7% and 94.0% respectively which were really much higher than quantitative test whose pass rate were only 53.7% and 74.5%. 【Conclusion】 Because of the large CVs and low pass rate,external quality control program for G6PD are intensively needed in order to improve newborn screening laboratories` test capability and then improve the quality of the population born in China.