关键词: 先天性甲状腺功能低下症, 苯丙酮尿症, 筛查, 新生儿

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