Abstract：Objective To analyze the status of neonatal screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) in south region of Xinjiang, and to discuss the incidence of the two kinds of diseases in recent 5 years. Methods:The concentrations of phenylalanine and thyrotropin in dried-blood spot specimens on filter paper were detected by fluorometric method and time-resolved fluorometric assay. Results:Of 154,548 newborns screened in south region of Xinjiang, 64 were identified with phenylketonuria, giving an incidence of 0.414‰, and 28 had congenital hypothyroidism, with an incidence of 0.181‰. Conclusions:The incidence of phenylketonuria of the newborns in south region of Xinjiang is significantly higher than the average level of the whole country, whereas the incidence of congenital hypothyroidism is lower. Conducting neonatal screening in south region of Xinjiang has an important social significance in early diagnosis and treatment of phenylketonuria and congenital hypothyroidism and improvement of qualities of newborn babies.
王昌敏, 王慧琴, 张慧. 新疆南疆地区2009-2013年新生儿疾病筛查结果分析[J]. 实用预防医学, 2015, 22(1): 72-73.
WANG Chang-min, WANG Hui-qin, ZHANG Hui. Analysis on the results of neonatal screening in south region of Xinjiang in 2009-2013. , 2015, 22(1): 72-73.
2015, Vol. 22 
