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目的分析新疆南疆地区2015年度192 633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2015年度新生儿疾病的检出情况。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192 633例新生儿经筛查确诊苯丙酮尿症31例,检出率为0.161‰;先天性甲状腺功能减低症15例,检出率为0.078‰。结论新疆南疆地区192 633例新生儿的苯丙酮尿症及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 192 633 newborns with phenylketonuria (PKU) and congenital hypothyroidism (CH) in South Xinjiang in 2015, The detection of the 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 192 633 newborns in southern Xinjiang were diagnosed with phenylketonuria by screening. The detection rate was 0.161 ‰. Congenital hypothyroidism was diagnosed in 15 cases and the detection rate was 0.078 ‰. Conclusions The detection rate of phenylketonuria and congenital hypothyroidism in 192 633 newborns in southern Xinjiang is lower than the national average. To improve the screening rate of neonatal diseases in remote areas in Xinjiang is of great value in the early diagnosis and treatment of infants, The quality of the population is of great significance.