目的了解漳州市新生儿先天性甲状腺功能减低症(CH)和苯丙酮尿症(PKU)的患病情况,探讨筛查中存在的问题并提出相应的对策。方法分析漳州市2011—2014年间新生儿CH和PKU的筛查结果。结果 4年间共筛查新生儿248 759例,筛查率95.6%;检出CH 80例,检出率0.322‰(1/3 109);PKU 4例,检出率0.0161‰(1/62189)。患儿一经确诊立即进行临床系统治疗,追踪并监测其体格和智能发育,目前患儿体格和智能发育均在正常范围内。结论通过新生儿疾病筛查可早期诊断治疗CH和PKU,避免其对新生儿智能和体格发育的损害。 Objective To understand the prevalence of congenital hypothyroidism (CH) and phenylketonuria (PKU) in Zhangzhou city, explore the existing problems in screening and put forward corresponding countermeasures. Methods The screening results of neonatal CH and PKU in Zhangzhou from 2011 to 2014 were analyzed. Results A total of 248 759 newborns were screened during the 4 years. The screening rate was 95.6%. 80 cases were diagnosed with CH, the detection rate was 0.322 ‰ (1/3 109), and 4 cases were PKU with the detection rate of 0.0161 ‰ (1/62189) . Once diagnosed, the patient undergoes systematic clinical treatment immediately, tracing and monitoring their physical and mental development, and current physical and mental development of the child is within the normal range. Conclusions CH and PKU can be diagnosed and diagnosed early by neoplasm disease screening to avoid their damage to intelligence and physical development of newborn.