新疆喀什地区2010—2017年新生儿疾病筛查结果分析

Analysis of screening results of neonatal diseases in Kashi region of Xinjiang in 2010-2017

目的分析新疆喀什地区2010-2017年新生儿疾病的筛查结果。方法采集新生儿足跟血,进行先天性甲状腺功能减退症(CH)及苯丙酮尿症(PKU)筛查。结果 2010-2017年,新疆喀什地区共筛查新生儿293 925名,筛查率由2010年的0.21%提高到2017年99.34%,共确诊CH34例,平均检出率1:8645;PKU51例,平均检出率1:5763。93.75%的接受治疗的CH患儿及84.44%的接受治疗的PKU患儿经持续治疗后智能和体格发育正常。结论新生儿疾病筛查是减少出生缺陷的重要手段,通过筛查和早期治疗,可使患儿智力达到正常水平,减少弱智儿童的发病率;有效开展新生儿疾病筛查,对提高人口素质起着积极的推动作用.

Objective:To analyze the screening results of neonatal diseases in Kashi region of Xinjiang from 2010 to 2017.Methods:Neonatal heel blood of neonate was collected for congenital hypothyroidism(CH)and phenylketonuria(PKU)screening. Results:From 2010 to 2017,a total of 293 925 newborns were screened in Kashi region of Xinjiang,and the screening rate increased from 0.21% in 2010 to 99.33% in 2017. A total of 34 cases were diagnosed as CH,and the average detection rate was1:8645. 51 cases were diagnosed as PKU,and the average detection rate was 1:5763. After continuous treatment,93.75% of treated CH children patients and 84.44% treated PKU children patients would have normal intelligence and physical development.Conclusion:Neonatal disease screening is an important means to reduce birth defects. Through screening and early treatment,it can make children′ s intelligence reach normal level and reduce the incidence rate of mentally handicapped children. Effective screening of neonatal diseases will be carried out to positively promote the quality of the population.