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目的:了解安徽省皖南地区新生儿疾病筛查和随访情况。方法:CH应用时间分辨荧光免疫法检测新生儿滤纸干血片上促甲状腺素(TSH)的浓度筛查CH,PKU先后用细菌抑制法和时间分辨免疫荧光法检测新生儿滤纸干血片苯丙氨酸(Phe)的浓度,并对确诊的患儿进行临床治疗和随访。结果:共筛查190 403例,确诊CH 100例,发病率为1/1 904;PKU 14例,发病率为1/13 600。临床治疗及随访患儿体格及智力发育基本正常。结论:新生儿疾病筛查是提高人口素质,降低残疾儿出生的一项重要措施,是属社会性、群众性工作,应在政府的领导和支持下,不断健全网络、规范管理和加强健康教育,才能有效提高筛查覆盖面,使患儿得到早期诊断和治疗,从而提高人口素质,减少残疾儿童发生。
Objective: To understand the screening and follow-up of neonatal diseases in southern Anhui Province. Methods: CH was used to detect the concentration of thyroid-stimulating hormone (TSH) on the dry filter paper of neonatal filter paper by time-resolved fluorescence immunoassay. CH and PKU were tested by bacterial inhibition and time-resolved immunofluorescence. Acid (Phe) concentration, and the diagnosis of children with clinical treatment and follow-up. Results: A total of 190 403 cases were screened, 100 cases were diagnosed as CH, the incidence was 1/1 904, and 14 cases were PKU with the incidence of 1/13 600. Clinical treatment and follow-up of children with normal physical and mental development. Conclusion: Neonatal screening is an important measure to improve the quality of the population and reduce the birth of children with disabilities. It is a social and mass work. With the government’s leadership and support, we should continue to improve the network, standardize management and strengthen health education In order to effectively improve the screening coverage so that children can be diagnosed and treated early so as to improve the quality of the population and reduce the incidence of children with disabilities.