新疆维吾尔自治区2011年新生儿疾病筛查情况分析

The analysis results of neonatal screening in Xinjiang Uygur Autonomous Region in 2011

目的分析新疆地区2011年新生儿苯丙酮尿症(phenylketonuria,PKU)和先天性甲状腺功能减低症(congenital hypothyroidism,CH)筛查结果,了解新疆地区新生儿疾病筛查整体情况。方法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。结果新疆地区74 407例新生儿经筛查确诊苯丙酮尿症25例,检出率为0.336‰;先天性甲状腺功能减低症28例,检出率为0.376‰。结论掌握了新疆地区2011年苯丙酮尿症和先天性甲状腺功能减低症的总体情况;在新疆地区进行新生儿疾病筛查对于患儿早期诊治具有重要意义。

Objective： For phenylketonuria and congenital hypothyroidism screening of neonates in Xinjiang, and to grasp the overall situation in 2011. Methods： Fluorometric determination and time-resolved fluorometric determination to tested concentration in dry blood filter paper of congenital phenylalanine and hypothyroidism. Results： There are 25 patients with phenylketonuria and 28 newborn with congenital hypothyroidism of 74 407 neonatal screening in Xinjiang.The average detection rate in Xinjiang of neonatal phenylketonuria was 0.336‰. The average detection rate in Xinjiang of neonatal congenital hypothyroidism was 0.376‰. Conclusion： Understanding the detection rate of neonatal PKU and CH in Xinjiang, and there is an important significance in this area.