四川省新生儿G6PD缺乏症筛查切值的探讨

Setting cut-off value for neonatal glucose-6-phosphate dehydrogenase deficiency in Sichuan Province

目的分析四川片区葡萄糖-6-磷酸脱氢酶(G6PD)的分布水平,制定适宜的切值。方法对四川省新筛中心开展四项筛查片区的各市县2014年至2016年12月206 420例新生儿G6PD水平的筛查结果进行分析,采用百分位数法确定切值。结果新生儿筛查的G6PD检测水平呈偏态分布;不同性别、体重及孕周的G6PD亦有显著性差异(性别:χ~2=253.754,P<0.05,体重:χ~2=297.288,P<0.05,孕周:χ~2=649.618,P<0.05);根据稳健回归统计发现,孕周与G6PD的相关性最好(B=-0.883,P=0),故分析考虑增设早产儿因素,但分析表明增设早产儿切值,除增加假阳性率外,无任何意义,故仅设一个切值即可。G6PD缺乏症在四川片区的总发病率为1.20%,其中男婴为2.2%,女婴为0.17%。结论四川地区的G6PD缺乏症发病率明显低于全国其他地区,建议筛查切值统一定为3.4IU/gHb,以减少假阳性率和召回率。

Objectives To analyze the glucose-6-phosphate dehydrogenase （G6PD） level in Sichuan area and set a reasonable screening cut-off value. Methods Analysis was conducted on 206 420 newborn screening results of G6PD level in the four disease screening areas of Sichuan neonatal screening center during 2014 to 2016, and percentile method was used to establish cut-off value. Results Neonatal G6PD levels were skewed distributed.There were significant differences among neonates with different gender, weight and gestational age （gender： χ^2= 253. 754, P 〈 0.05, weight ：χ^2 = 297. 288, P 〈 0.05, gestational age： χ^2 = 649. 618, P 〈0.05）. Robust regression statistics revealed that gestational age had the best correlation with G6PD（B =-0.883, P = 0）, so neonatal factors were proposed to be considered. But analysis showed that neonatal cut-off value added had no significance except increasing false positive rate. Therefore, one cut-off value was set. Total incidence of G6PD was 1.20‰.The incidence among male infants was 2. 2‰ and among female infants was 0. 17‰ in Sichuan area. Conclusion Incidence of G6PD in Sichuan area is significantly lower than national level. It is recommended to set screening cut-off value of 3.4U/g Hb for all neonates so as to reduce false positive rate and recall rate.