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目的:调查和分析宁夏回族自治区新生儿疾病筛查现状。方法:按照卫生部《新生儿疾病筛查技术规范》于新生儿出生后72 h,充分哺乳后采足跟血3滴渗在滤纸片上,通过邮政快递至新生儿疾病筛查中心,通过实验室检测方法测定血苯丙氨酸(Phe)和TSH浓度。结果:宁夏自2007年8月开展新生儿疾病筛查工作以来,筛查率逐渐提高,2011年达83.87%。5年来共筛查136 909万名新生儿,确诊苯丙酮尿症患儿40名,发病率0.29‰(1/3 423),先天性甲状腺功能减低症37名,发病率0.27‰(1/3 700),苯丙酮尿症发病率高于我国其他城市地区水平,可疑阳性病例复查率达80.00%。结论:依法服务,加强管理,提高新生儿疾病筛查率和可疑阳性患儿追访率,减少因CH、PKU发生的残疾。
Objective: To investigate and analyze the status quo of neonatal disease screening in Ningxia Hui Autonomous Region. Methods: According to the Ministry of Health “Newborn disease screening technical specifications” in the newborn after 72 h after birth, after adequate breastfeeding with three drops of blood and blood on the filter paper, postal delivery to the Neonatal Disease Screening Center, through the laboratory Detection method Determination of blood Phe and TSH concentrations. Results: Since Ningxia carried out the screening of neonatal diseases in August 2007, the screening rate gradually increased, reaching 83.87% in 2011. Over the past five years, a total of 136909 newborns were screened and 40 children diagnosed with phenylketonuria were diagnosed. The morbidity was 0.29 ‰ (1/3 423) and congenital hypothyroidism was 37 (incidence 0.27 ‰ (1/3 700). The incidence of phenylketonuria was higher than that of other cities in China. The rate of suspicious positive cases was 80.00%. Conclusion: According to the law, we should strengthen management, improve screening rate of neonatal diseases and follow-up rate of suspicious positive children, and reduce the disability caused by CH and PKU.