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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CH263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。
Objective To analyze the screening, convalescence rate and recall rate of congenital hypothyroidism (CH) and phenylketonuria (PKU) in Xi’an from 2006 to 2012. Methods The retrospective analysis method was used to determine the concentrations of Tsh and Phe by time-resolved immunofluorescence and immunofluorescence. Results A total of 384 336 newborns were screened from 2006 to 2012 in Newborn Disease Screening Center of Xi’an City. A total of 263 CH cases were screened, with a prevalence of 1: 146l and 153 cases of PKU, with a prevalence of 1: 51212. The number of annual screening increased from 20 008 to 86 375. The positive detection rate of CH increased from 1: 669 to 1: 464. The positive detection rate of PKU increased from 1: 5002 to 1: 399, The recall rate increased from 40.41% to 85.16% and the recall rate increased from 70.7% to 96.0%. The positive rate, screening rate and recall rate are all increasing year by year. Conclusions CH and PKU can improve the quality of the birth population and avoid the heavy burden on the society and the family through the early screening, early detection, early diagnosis and early treatment of the newborn, avoiding the impairment of mental and physical development and other organ functions, Is to reduce the incidence of birth defects effective measures.