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新生儿疾病的筛查是指国家医疗保健机构针对新生儿某些危害严重的先天性疾病、遗传代谢性疾病进行的一种快速、简便、敏感的群体筛检方法。使患儿在尚未出现疾病临床表现,但其体内代谢或者功能已有变化时,及时做出诊断为治疗提供依据,预防和避免患儿出现重要脏器不可逆性的损害,从而保障儿童正常的体格和智能的发育。新生儿疾病筛查是目前世界上预防先天性疾病及遗传代谢性疾病的主要措施,对提高人口素质有重要意义。
Screening for neonatal diseases refers to a rapid, simple and sensitive screening method for the national health care institutions against some of the most devastating congenital diseases and genetic metabolic diseases in newborns. So that children have not yet appeared in the clinical manifestations of the disease, but the body’s metabolism or function has changed, the timely diagnosis to provide the basis for the treatment, prevention and prevention of children irreversible damage to important organs in order to protect children’s normal physical And intelligent development. Neonatal disease screening is the world’s major measures to prevent congenital and genetic metabolic diseases, to improve the quality of population is of great significance.