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目的分析衢州市开展新生儿疾病筛查结果,对筛查检出率等进行探讨。方法采集新生儿足跟血于特种滤纸上,检测滤纸血斑中促甲状腺素(TSH)和苯丙氨酸(Phe)浓度,进行先天性甲状腺功能减低症(CH)和苯丙酮尿症(PKU)筛查,可疑病例进行确诊检查。结果 2001年1月-2010年9月衢州市筛查新生儿201021例,筛查率为83.6%。检出CH193例,发病率为1/1041;苯丙酮尿症8例,发病率1/25128。结论衢州市是CH的高发地区,可能与地处山区、缺碘和经济发展滞后有关,尚有待进一步探讨。浙江省新生儿疾病筛查中心统一负责全省CH及PKU的筛查、诊治,这是一个较好的模式。
Objective To analyze the screening results of neonatal diseases in Quzhou City and explore the detection rate of screening. Methods Thyroid-stimulating hormone (TSH) and phenylalanine (Phe) concentrations were measured in neonatal heel blood samples on special filter paper. Congenital hypothyroidism (CH) and phenylketonuria (PKU ) Screening, suspicious cases for diagnosis. Results From January 2001 to September 2010, 201021 cases of neonates were screened in Quzhou City, with a screening rate of 83.6%. Detection of CH193 cases, the incidence was 1/1041; 8 cases of phenylketonuria, the incidence of 1/25128. Conclusion Quzhou City is a high incidence area of CH, which may be related to mountainous areas, lack of iodine and lagging economic development, which needs to be further explored. Zhejiang Province Neonatal Disease Screening Center unified CH and PKU in the province for screening, diagnosis and treatment, which is a better model.