宁德市新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查结果分析.pdfVIP

18CHINAHEALTHSTANDARDMANAGEMENT,Vol.16,No.6

宁德市新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查结果分析

罗一枝沃静芝李桦

April2021.Theresearchdatawereallfromtheneonataldisease

【摘要】目的回顾性分析宁德市新生儿葡萄糖-6-磷酸脱氢酶screeninglaboratoryofNingdeMaternityandChildHealthCare

（glucose-6-phosphatedehydrogenase，G6PD）缺乏症（glucose-Hospital.Bloodsampleswerecollected72hoursafterthenewborn

6-phosphatedehydrogenasedeficiency，G6PDD）筛查结果。wasborn,andsemi-automaticfluorescenceimmunoassayanalyzer

方法筛查对象为2021年1—4月在宁德市出生的新生儿6831andfluorescencequantitativeanalysismethodwereusedtodetect

名，研究数据均来自宁德市妇幼保健院新生儿疾病筛查实验室，theG6PDactivityofredbloodcellsindrybloodfilterpaper

于新生儿出生72h后采集血液标本，针对红细胞G6PD活性specimens.Forchildrenwhowereinitiallyscreenedpositive,

进行检测，所用仪器与方法包括半自动荧光免疫分析仪、荧光genemutationtestingwascarriedoutbytheMunicipalNeonatal

定量分析法，针对初筛阳性患儿需要由市新生儿疾病筛查中心DiseaseScreeningCentertoconfirmthediagnosis.TheG6PDD

实施基因突变检测以确诊，分析G6PDD初筛结果、比较不同screeningresultswereanalyzed,andtheG6PDDgenediagnosis

性别新生儿G6PDD基因诊断结果并分析G6PDD新生儿基因resultsofnewbornsofdifferentgenderswerecompared,andthe

突变类型。结果新生儿G6PDD阳性筛出率达4.26%，男性新G6PDDgenemutationtypesofnewbornswereanalyzed.Results

生儿G6PDD初筛阳性率高于女性新生儿，差异有统计学意义ThepositivescreeningrateofG6PDDwas4.26%,andthepositive

（P＜0.05）。新生儿基因变异热点检测结果显示共计107例新rateofG6PDDinmaleneonateswashigherthanthatinfemale

生儿发生基因变异，占比达36.77%，男性新生儿G6PDD检neonates,the