Abstract: Objective To analyze congenital hypothyroidism (CH) and phenylketonuria (PKU) in Xi'an from 2006 to 2012 about its screening situation, the incidence and the recall rate. Methods Using retrospective analysis method, the apply time-resolved immunofluorescence and immunofluorescence method were used to determine the concentration of Tsh and Phe. Results A total of 384 336 newborns were screened from 2006 to 2012 in Xi'an Neonatal Screening Center.263 cases were confirmed positive for CH, with an incidence of 1∶1 461, 153 cases were confirmed positive for PKU, with an incidence of 1∶2 512.The number of screening by 20 008 rose to 86 375 from 2006 to 2012, CH positive detection rate by higher for 1∶6 669 to 1∶1 464, PKU positive detection rate by 1∶5 002 to 1∶2 399, screening rate rose to 85.16% from 40.41%, the recall rate increased from 70.7% to 96.0%.The positive, screening rate and recall rate were on the rise year by year. Conclusions Early discovery, diagnosis and treatment are of great help in disease prevention among newborns and avoiding low intelligence, physical development, organ damage, avoid to bring burden to the society and family.Improving the birth population quality is an effective measure to reduce the incidence of birth defects.

Key words: congenital hypothyroidism, phenylketonuria, screening, neonates

摘要： 目的 分析西安市2006-2012年先天性甲状腺功能低下症(congenital hypothyroidism, CH)和苯丙酮尿症(phenylketonuria, PKU)筛查情况、发病率及召回率。方法 采用回顾性分析方法, 应用时间分辨免疫荧光法和免疫荧光法分别测定Tsh和Phe浓度。结果 西安市新生儿疾病筛查中心2006-2012年共筛查新生儿384 336例, 筛查出CH 263例, 发病率1∶1 461, PKU 153例, 发病率1∶2 512 。2006年至2012年筛查人数由20 008例上升到86 375例, CH阳性检出率由1∶6 669升高至1∶1 464, PKU阳性检出率由1∶5 002升至1∶2 399, 筛查率从40.41%上升至85.16%, 召回率从70.7%提高至96.0%, 阳性率、筛查率和召回率都在逐年上升。结论 CH、PKU可以通过新生儿早期筛查, 早发现、早诊断、早治疗, 避免智力和体格发育低下以及其他器官功能的损害, 提高出生人口素质, 避免给社会和家庭带来的沉重负担, 是降低出生缺陷发生率的有效措施。

关键词: 先天性甲状腺功能低下症, 苯丙酮尿症, 筛查, 新生儿