摘要
目的建立河源地区新生儿G6PD缺乏症筛查截断值。方法取新生儿足跟血滤纸干血斑以荧光免疫分析法测定G6PD活性,取外周血以比值法进行验证,部分新生儿进行G6PD基因突变分析,应用MedCalc软件制作受试者工作特征曲线确定G6PD筛查截断值。结果在男性中,筛查截断值为3.00 U/gHb、4.50 U/gHb和4.42 U/gHb时,灵敏度分别为96.38%、98.84%、98.84%,特异度分别为99.83%、99.61%和99.62%,约登指数分别为0.962、0.985和0.985,阳性似然比分别为566.94、253.44和260.11,阴性似然比分别为0.04、0.01、0.01。在女性中,筛查截断值为3.00 U/gHb、4.50 U/gHb和4.42 U/gHb时,灵敏度分别为62.69%、92.84%和92.84%,特异度分别为99.10%、93.72%和94.32%,约登指数分别为0.618、0.866和0.872,阳性似然比分别为69.66、14.78和16.34,阴性似然比分别为0.38、0.08和0.08。不同基因突变位点导致不同程度的G6PD活性下降,以3.00 U/gHb为截断值将会漏诊部分G6PD杂合突变女性新生儿。评估近五年河源辖区内分娩新生儿筛查情况,以4.50 U/gHb为截断值可避免漏诊4 078例可疑G6PD缺乏症者。结论综合各评价指标,本实验室仍采用4.50 U/gHb作为G6PD缺乏症筛查截断值。新生儿G6PD缺乏症筛查截断值的建立,可为河源地区今后的筛查工作提供依据与参考。
Objective To establish a screening cut⁃off value for neonatal glucose⁃6⁃phosphate dehydrogenase(G6PD)deficiency in Heyuan area.Methods Dried blood spots on neonatal heel blood filter paper were used to determine G6PD activity by fluorescence immunoassay.Peripheral blood was taken for verification by ratio method.Some neonates were subjected to G6PD gene mutation analysis,and MedCalc software was used to make receiver operating characteristic curve to determine the cut⁃off value of G6PD screening.Results In males,when the cut⁃off values were 3.00 U/gHb,4.50 U/gHb,and 4.42 U/gHb,the sensitivities were 96.38%,98.84%,and 98.84%,the specificities were 99.83%,99.61%,and 99.62%,the Youden indices were 0.962,0.985,and0.985,the positive likelihoods ratios were 566.94,253.44,and 260.11,and the negative likelihood ratios were 0.04,0.01,and 0.01,respectively.In females,when the cut⁃off values were 3.00 U/gHb,4.50 U/gHb,and 4.42 U/gHb,the sensitivities were 62.69%,92.84%,and 92.84%,the specificities were 99.10%,93.72%,and 94.32%,the Youden indices were 0.618,0.866 and 0.872,the positive likelihoods were 69.66,14.78,and 16.34,and the negative likelihood ratios were 0.38,0.08,and 0.08,respectively. Different gene mutation sites lead to different degrees of decline in G6PD activity,and some female newborns with heterozygous G6PD mutations were missed by using 3.00 U/gHb as the cut ⁃ off value. The status of newborns screening in Heyuan City in the past five years was evaluated,the cut⁃off value of 4.50 U/gHb can avoid missed diagnosis of 4078 cases of suspected G6PD deficiency. Conclusion Based on the evaluation indexes,our laboratory still uses 4.50 U/gHb as the cut⁃off value for G6PD deficiency screening. The establishment of cut⁃off value for neonatal G6PD deficiency screening can provides a basis and reference for future screening work in Heyuan area.
作者
刘运华
吴坤
刘晓燕
LIU Yunhua;WU Kun;LIU Xiaoyan(Department of Medical Genetic Laboratory,Heyuan Maternal and Child Health Care Hospital,Heyuan,Guangdong,China,517000)
出处
《分子诊断与治疗杂志》
2021年第7期1166-1170,共5页
Journal of Molecular Diagnostics and Therapy
基金
广东省医学科研基金资助项目(A2017431)。
