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目的 分析新疆南疆地区2012-2016年度691 700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5地州44县市近5年度新生儿2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地州44县市近5年691 700例新生儿经筛查确诊苯丙酮尿症98例,检出率为0.142‰;先天性甲状腺功能减低症90例,检出率为0.130‰.结论 2012-2016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 For phenylketonuria and congenital hypothyroidism screening of 691 700 neonates in south region of Xinjiang,and to discuss the detection rate in 2012-2016.Methods In the special filter paper collecting heel blood of newborn.Fluorometric determination and time-resolved fluorometric determination to tested concentration in dry blood filter paper of Phenylalanine and congenital hypothyroidism.Results There are 98 patients (detection rate was 0.142‰) with phenylketonuria and 90 patients (detection rate was 0.130‰) with congenital hypothyroidism of 691 700 neonatal screening in south region of Xinjiang in these five years.Conclusion Understanding the detection rate of neonatal PKU in south region of Xinjiang were higher than the national average,the detection rate of neonatal CH in south region of Xinjiang were lower than national average,and there is an important significance in this area.