Objective:To retrospectively analyze the screening results of inherited metabolic diseases in neonates in Zhangzhou from 2016 to 2021 and to investigate the screening status and detection rate of congenital hypothyroidism(CH),phenylketonuria(PKU),glucose-6-phosphate dehydrogenase(G6PD)deficiency and congenital adrenal hyperplasia(CAH)in Zhangzhou area,and to provide a basis for further improving the screening quality of neonatal inherited metabolic diseases.Methods:Thyrotropin(TSH)and phenylalanine(Phe)in dried blood tablets from 346 976 neonates born in Zhangzhou from 2016 to 2021 and the activities of 17-hydroxyprogesterone(17-OHP)and glucose-6-phosphate dehydrogenase(G6PD)in dried blood tablets from 318 570 neonates born in Zhangzhou from 2016 to 2021 were measured.The number of screening,screening rate,number of confirmed cases,detection rate and the diagnosis of each county were analyzed.Results:The screening rates of CH and PKU,G6PD and CAH increased year by year from 2016 to 2021,and the screening rates reached more than 99% in 2020 and 2021.A total of 224 children with CH were diagnosed in the past 6 years,with a detection rate of 64.56/100 000.Twenty-two children were diagnosed with PKU,with a detection rate of 6.34/100 000.A total of 3 970 children with G6PD were diagnosed,with a detection rate of 1 246.19/100 000.Seven children were diagnosed with CAH,and the detection rate was 2.20/100 000.Among the counties(districts)in Zhangzhou,the detection rates of CH and PKU were the highest in the Taiwan investment area,the detection rate of G6PD was the highest in Pinghe County,and the detection rate of CAH was the highest in Yunxiao County.Conclusions:Neonates screening for inborn errors of metabolism is the most effective method for early detection of inborn errors of metabolism,which is of great significance for improving the quality of the birth population.
NETL
NSTL
万方数据
