应用荧光斑点法和G6PD/6PGD比值法检测新生儿G6PD

Fluorescence spot test and G6PD/6PGD rate test detecting of G6PD

目的建立适合于G6PD缺乏的新生儿筛查及确诊方法。方法应用荧光斑点法(FST)对新生儿筛查滤纸干血片进行检测,对可疑阳性者召回,抽静脉血以G6PD/6PGD比值法进行确诊,同时结合新生儿父母亲的G6PD结果 ,根据遗传关系综合分析。结果 FST筛查95471例新生儿,G6PD缺乏阳性率为4.53%(4321/95471),G6PD/6PGD比值法确诊检出率为4.20%(4009/95471),与比值法的符合率为92.78%,G6PD重度缺乏者的符合率为100%,G6PD中间缺乏者的符合率为86.13%,室间质量控制结果与反馈结果符合率为100%。结论 FST具有高的敏感性、特异性和准确性,方法简便、快捷、费用低廉,可对滤纸干血片标本进行大规模的筛查检测,同时利用比值法进行确诊,适宜在高发区开展G6PD缺乏的新生儿筛查和早期诊断及防治工作中应用。

Objective：To establish the methods for neonatal screening and further confirmation of Glucose-phosphatede hydrogenase deficiency.Methods：G6PD activity was measured by using fluorescence spot test（FST） with the dry blood specimens on the filter paper for neonatal screening.Babies whose specimens showed to be doubtful positive result will becalled back.G6PD/6PGD rate test of venous blood specimens was further performed for confirmation.At the same time,analyzing the result according to his or her parent blood.Results：G6PD deficiency rate was4.53%（4321 /95 471） in FST for screening 95 471 newbabies.The accurate diagnosis rate was 4.20%（4009 /95 471）,The conformation rate of FST and G6PD/6PGD rate test for G6PD deficiency was 92.78% ;The severe deficiency groups was 100% ;The middle deficiency groups was 86.13% ;The consistency of the EQA result with the feedback result is 100%.Conclusion：FST is used in neonatal screening of G6PD deficiency because of its high sensitivity and specificity and accuracy.The method is simple and convenient and shortcut and low-costexes.It can test lots of blood specimens on the filter paper.At the same time,G6PD/6PGD rate test is used for accurate diagnosis,They is very Favorable to diagnose and treat G6PD deficiency early in high incidence districts.