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目的分析新疆南疆地区2016年度226 068例新生儿苯丙酮尿症(phenylketonuria,PKU)和先天性甲状腺功能减低症(congenital hypothyroidism,CH)的筛查结果,了解新疆南疆地区5州市37区县2016年度新生儿两项疾病的检出情况。方法采集新生儿足跟血于专用滤纸,分别采用化学荧光法和时间分辨荧光免疫法检测干滤纸血片中苯丙氨酸(Phe)、促甲状腺素(TSH)浓度。结果新疆南疆地区5州市37区县226 068例新生儿经筛查确诊苯丙酮尿症45例,检出率为0.199‰;先天性甲状腺功能减低症38例,检出率为0.168‰。结论 2016年度新疆南疆地区新生儿苯丙酮尿症检出率高于全国平均水平,先天性甲状腺功能减低症检出率低于全国平均水平;提高新疆偏远地区新生儿疾病筛查率对于患儿早期诊治,以及提高出生人口素质具有重要意义。
Objective To analyze the screening results of 226 068 newborns with phenylketonuria (PKU) and congenital hypothyroidism (CH) in 2016 in Xinjiang’s southern Xinjiang region. County 2016 newborns two disease detection situation. Methods The neonatal heel blood was collected on a special filter paper. The concentrations of phenylalanine (Phe) and thyrotropin (TSH) in dried filter paper were determined by chemical and time-resolved fluorescence immunoassay. Results A total of 226 068 newborns from 37 districts and counties in 5 prefectures and cities of Xinjiang Autonomous Region were diagnosed 45 cases of phenylketonuria by screening. The detection rate was 0.199 ‰. The incidence of congenital hypothyroidism was 38 cases, the detection rate was 0.168 ‰. Conclusions The detection rate of neonatal phenylketonuria in southern Xinjiang in 2016 is higher than the national average. The detection rate of congenital hypothyroidism is lower than the national average. Increasing screening rate of neonatal diseases in remote areas in Xinjiang. Early diagnosis and treatment, as well as improving the quality of the birth population is of great significance.