论文部分内容阅读
目的分析和总结2002-2008年响水县新生儿遗传代谢性疾病筛查情况。方法响水县接产单位住院分娩的新生儿在出生后72 h并充分哺乳后,采集新生儿足跟部血液,滴渗在特定的滤纸上,集中送检后由盐城市新生儿疾病筛查中心对先天性甲状腺功能减低症(CH)和苯丙酮尿症(PKU)两种新生儿遗传代谢性疾病进行检测。结果2002-2008年,共筛查新生儿25860例,确诊CH患儿17例,发病率为0.66‰,PKU患儿3例,发病率为0.12‰。结论响水县新生儿遗传代谢性疾病筛查工作水平不断提高。提示加强新生儿疾病筛查知识的宣传、培训,加强新生儿疾病筛查工作的质量管理、督导,做好筛查儿童随访工作是提高新生儿疾病筛查工作水平的有效措施。
Objective To analyze and summarize the screening of neonatal genetic metabolic diseases in Xiangshui County from 2002 to 2008. Methods Newborns admitted to hospital in Xiangshui county for 72 hours after birth and fully breast-fed collected blood from the heel of newborns and dripped them on special filter paper. After centralized examination, the newborns were screened by Yancheng Neonatal Disease Screening The center of congenital hypothyroidism (CH) and phenylketonuria (PKU) two kinds of neonatal genetic metabolic diseases were detected. Results From 2002 to 2008, a total of 25,860 newborns were screened. Seventeen children with CH were diagnosed. The incidence rate was 0.66 ‰ and the incidence of PKU in children was 3.12 ‰. Conclusion The screening of neonatal genetic metabolic diseases in Xiangshui County has been continuously improved. Prompted to strengthen the publicity and training of neonatal screening knowledge, strengthen the quality management of neonatal screening work, supervision, and doing a good job of screening children for follow-up work is to improve the level of neonatal screening work effectively.