河源市新生儿疾病筛查结果的分析

目的 回顾性地分析2003-2010年的筛查结果,了解我市新生儿中的PKU、CH和G6PD缺乏症的发病率及治疗效果.方法 运用芬兰Labsystem公司提供的筛查试剂盒对在本市33间医院采集的36 119份标本进行PKU、CH和G6PD缺乏症实验检测.结果 筛查新生儿36 119例,确诊TSH 9例,发病率为1/4013;苯丙酮尿症（PKU）筛查阳性2例,1例被确诊为轻型PKU,另1例确诊为其他代谢病,PKU发病率为1/36119;确诊G6PDD 2636例,发病率为7.33%.结论 新生儿疾病筛查是现代预防医学的一项重要内容,可以早期检出患儿,并早期治疗患儿,避免发生体格和智能发育障碍,对优生优育和提高我国人口素质具有深远意义.

Analysis of neonatal illness screening result in Heyuan

Objective Analyze the screening results of 2003 -2010 retrospectively, and to understand the incidence rate of PKU, CH and G6PDD in the newborns. Methods Use the Finnish Labsystem company's screening kits to test the PKU, CH and G6PD deficiency of 36 119 specimens which collected from 33 hospitals in Heyuan city. Results Among 36 119 cases, 9 cases were diagnosed with TSH, and Incidence rate was 1/4013; Benzene acetone urine disease (PKU) 2 cases, one was light PKU,the other was other metabolic disease, so the incidence rate was 1/36 119; 2636 cases were diagnosed with G6PDD, and its incidence rate was 7.33%. Conclusion Neonatal illness screening is important content of modern preventive medicine. It can detected the ill-children in early time, then treat the children early.And avoid physique and intelligent development problem of the newborns; and increase our country's population quality with far-reaching significance.