目的 了解芜湖县新生儿苯丙酮尿症(PKU)和先天性甲状腺功能低下症(CH)的发病水平,以便早发现早治疗。方法 收集2014~2016年在芜湖市新生儿疾病筛查中心检测的芜湖县5 558名新生儿监测资料,监测对象出生72 h充分哺乳6次后,采集足跟滤纸血片,对采集的滤纸晾干血片及时递送至实验室,分别采用时间分辨荧光免疫分析检测促甲状腺激素和荧光法检测苯丙氨酸。结果 全县5 558例新生儿接受新生儿筛查,筛查率为98.77%,不合格血片占1.06%;不合格血片召回率为91.53%,可疑阳性召回率为100%;确诊先天性甲状腺功能低下症患儿3例,检出率为0.54‰;没有发现苯丙酮尿症患儿,确诊患儿得到及时治疗。结论 芜湖县新生儿存在先天性甲状腺功能低下症,早期发现并进行及时治疗,有效改善患儿的甲状腺功能状态。

Objective To understand the wuhu county neonatal benzene acetone urine (PKU) and congenital hypothyroidism (CH), the incidence of neonatal disease screening work in wuhu county play a better role in promoting this. Methods To collect wuhu county from 2014 to 2016 in wuhu neonatal diseases screening testing center of the county, 5558 infants born after 72 hours fully breastfeeding 6 times, heel collection filter paper dried blood samples, USES the blood sample collection, delivery, laboratory tests, treatment and follow-up process. Results 5558 cases of neonatal county accept neonatal screening,screening rate is 98.77%,unqualified blood composition ratio is 1.06%, unqualified blood and the recall rate was 91.53%, suspicious positive recall rate was 100%, the total of diagnosis of congenital hypothyroidism (CH) of children in 3, CH incidence of 0.54 ‰,no diagnosed PKU children, children get timely treatment, early diagnosis and follow-up. Conclusion Neonatal disease screening according to the measures for the administration of the neonatal disease screening, with the government's attention and support, has made achievements, should continue to strengthen publicity, strengthening training, expand the neonatal disease screening for diseases, prevention and treatment of children's mental retardation and disease disability, effectively control birth defects and improve our county birth population quality