武汉市新生儿疾病筛查管理模式研究

目的 :了解武汉市新生儿先天性甲状腺功能低下 (CH)和苯丙酮尿症 (PKU)的发病率 ,探讨 :新生儿疾病筛查的管理模式。方法 :对在本市 4 8所医院或妇幼保健院出生的 9885 1例新生儿采用足跟血滤纸干血斑法进行了二种疾病筛查。结果 :确诊甲低患儿 33例 ,PKU4例 ,发病率分别为 1:2 995 ,1:2 4 712。结论 :成立新生儿疾病筛查中心 ,进行统一管理 ,是进行新生儿筛查的最佳管理模式。对 2 5例患儿进行了长期追踪治疗 ,以对先天性甲低和 PKU的诊断及治疗等问题进行分析和探讨

Study of Management Model in Neonatal Screening in Wuhan

Objective: In order to investigate the incidence of neonatal congenital hyperthroidism and phenylketonuria in Wuhan, and explore the possible mechanism of managing neonatal screening successfully. Methods: 98851 new born babies originated from 48 Mother and Children Hospital, and other 48 hospitals were systematically screened for these two diseases by using dry blood spot samples derived from heel picking. Results: Found 33 confirmed cases of congenital hyperthroidism and 4 cases of PKU, the incidence for each disease is 1:2995 and 1:24712, respectively. Conclusion: Establishing a neonatal screening center and centralising the administrative work is the ideal managing mode for neonatal screening. At the same time, 25 confirmed cases are treated and followed for a prolonged period. Moreover, questions concerning the diagnosis and treatment of congenital hyperthroidism and PKU are raised and analyzed.