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[目的]分析和总结密云县新生儿疾病筛查情况。[方法]婴儿出生喂奶72h后取足跟血两滴滴渗在规定的滤纸上,测定相应的血生化指标,筛查出苯丙酮尿症(PKU),先天性甲状腺功能低下症(CH)。[结果]1995~2007年共筛查新生儿34607名,确诊PKU患儿5例,检出率1︰6921;确诊CH患儿10例,检出率1︰3467。由于早期诊断,及时治疗,15名患儿智能发育及体格发育均在正常范围。[结论]新生儿疾病筛查能使患儿得到早期诊断和治疗,是防止智力低下儿童发生的有效手段。
[Objective] To analyze and summarize the screening of neonatal diseases in Miyun County. [Method] After 72 hours of feeding, the hematopoietic stem cells were infiltrated on the prescribed filter paper and the corresponding blood biochemical indexes were measured. PKU and CH were screened out. [Results] A total of 34 607 newborns were screened from 1995 to 2007, and 5 children with PKU were diagnosed. The detection rate was 1︰6921. Among the 10 children diagnosed with CH, the detection rate was 1︰3467. Due to early diagnosis and timely treatment, 15 children with intellectual development and physical development were in the normal range. [Conclusion] Neonatal disease screening can make children get early diagnosis and treatment, which is an effective way to prevent children with mental retardation.