惠州市新生儿PKU、CH、G6PD缺陷筛查结果分析

Screening of PKU,CH and G6PD deficiency for neonat in Huizhou city

目的:了解惠州市新生儿PKU、CH、G6PD缺陷的发病率及新生儿疾病筛查的情况。方法:对惠州市2004年度新生儿筛查资料及惠州市各区人口出生情况进行回顾性分析。结果:CH的发病率是4/3157,G6PD缺陷的发病率是415/12629,PKU的检出率是1/12629;惠州市的新生儿总筛查率是27.60%。结论:新生儿筛查是早期发现PKU、CH、G6PD缺陷患儿,使其得到早期诊治,避免发生体格和智能发育障碍的有效手段,是提高人口素质的重要措施。

Objective:Analysing information of neonatal screening in Huizhou city to investigate the morbidity of PKU,CH and G6PD deficiency.Methods:To review neonatal screening data and birthrate in each county in 2004 of Huizhou city.Results:The incidences of deficiency of PKU,CH and G6PD were 1/12 629,4/3 157 and 415/12 629 respectively.The frequency of neonatal screen was 27.60%.Conclusion:Neonatal screening is a valid means to make patients with CH,G6PD and PKU deficiency diagnosed and treated earlier in order to avoid the retardation of development in physical and mental, and is an important measure to improve the quality of population.