新生儿G6PD缺乏症筛查及遗传咨询措施的研究

Newborn screening of Glucose-6-phosphate dehydrogense deficiency and the study of genetic counseling

目的新生儿G6PD缺乏症筛查,计算发病率、基因频率,患儿治疗及遗传咨询。方法筛查用荧光分辨法,确诊用G6PD/6PGD比值测定法。结果2007年10月至2008年10月对我院新出生的9842例新生儿进行了G6PD缺乏症筛查,男性5286例,女性4556例,共检出确诊病例18例。发病率为1.83‰(18/9842),其中男性发病16例,为1.63‰(16/9842),女性2例,为0.2‰(2/9842)。男女比例8∶1。G6PD缺乏症基因频率为0.00303(16/5286)。18例病儿中,祖籍为上海浦东人,发病3例,占16.67%(3/18),祖籍为外地人口发生15例,占83.33%(15/18)。

Objective：The newborn screening of G6PD deficiency,estimate the prevalence and genetic frequency,treatment and genetic counseling for G6PD deficiency. Methods： The samples was screened for G6PD deficiency by fluorescent distinguish test,and was diagnosed by G6PD/6PGD ratio. Results： All babies（ 9842 newborn） born between October 2007 and October 2008 in Pudong new area maternal and child health hospital ,was screened for G6PD deficiency,5286 male and 4556 female.There were 18 positive results for G6PD deficiency （16 boys and 2 girls）,and the prevalence was estimated to be around 1.83‰. The sex-specific prevalence for boys was 1.63‰,and for girls 0.2‰. Male to female ratio was 8∶1,genetic frequency of this deficiency was 0.00303（16/52886）. In the 18 positive babies there were 3 babies,16.67%（3/18） come from Shanghai Pudong and 83.33%（15/18） babies were immigrants.