应用荧光斑点法和比值法检测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D6PD／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25000例新生儿，G6PD缺乏阳性率为4．56％，确诊检出率为4．09％。与比值法的符合率为90．4％，G6PD重度缺乏者的符合率为100％，G6PD中间缺乏者的符合率为78．5％，室间质量控制结果与反馈结果符合率为100％。结论FST汀具有高的敏感性、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，可减少假阳性及假阴性，有利于早期诊断和防治G6PD缺乏所致的新生儿黄疸和急性溶血。

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

Objective: To establish the methods for neonatal screening and further confirmation of Glucose-phosphate dehydrogenase 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 be called 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's blood G6PD deficiency rate was 4.56% in FST for screening 25000 new babies. The accurate diagnosis rate was 4.09%. The conformtion rate of FST and G6PD/6PGD rate test for G6PD deficiency was 90.4%; The severe deficiency groups was 100%; The middle deficiency groups was 78.5%; The consistency of the EQA result with the feedback result is 100%. Conclusion: FST in 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-cost exes. It can test lots of blood specimens on the filter paper. At the same time, G6PD/6PGD rate test is used for accurate diagnosis, it can reduce supposititious positive and supposititious negative. It is very favorable to diagnose and treat icterus and acute hemolysis early brought by G6PD deficiency in high incidence districts.