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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 a newborn screening and diagnosis method suitable for G6PD deficiency. Methods Fluorescent blot method (FST) was used to detect the dry blood cells of neonatal screening filter paper. The suspicious positive patients were recalled and the venous blood was sampled by G6PD / 6PGD ratio method. Combined with the G6PD results of neonatal parents, Relationship Analysis. Results 95,771 newborns were detected by FST. The positive rate of G6PD deficiency was 4.53% (4321/95471). The positive rate of G6PD / 6PGD was 4.20% (4009/95471). The coincidence rate with the ratio method was 92.78% The coincidence rate of G6PD severe scarcity was 100%, that of G6PD scarcity was 86.13%, and that of inter-laboratory quality control and feedback was 100%. Conclusion FST possesses high sensitivity, specificity and accuracy. The method is simple, rapid and low cost. It can be used for large-scale screening and screening of dried filter paper of filter paper. Meanwhile, it is confirmed by the ratio method. It is suitable for G6PD Lack of newborn screening and early diagnosis and prevention and control of the application.