Roth K S
South Med J. 1986 Jan;79(1):47-54. doi: 10.1097/00007611-198601000-00014.
The rationale for metabolic screening includes discovery of new diseases, development of treatment methods, determination of the true incidence of disease in order to provide genetic counseling, and relief to the taxpayer when retardation is preventable. The number of diseases for which we can now screen is large and growing and must be periodically reviewed. Physical, cultural, and religious factors affect gene pool mixing, making it impossible to predict a priori what the incidence of a given disorder will be within the population screened. This paper reviews the rationale for establishing neonatal metabolic screening programs and the significance of the information gained.
代谢筛查的基本原理包括发现新疾病、开发治疗方法、确定疾病的实际发病率以提供遗传咨询，以及在可预防智力迟钝的情况下减轻纳税人的负担。目前我们能够进行筛查的疾病数量众多且不断增加，必须定期进行审查。身体、文化和宗教因素会影响基因库的混合，因此无法预先预测在接受筛查的人群中某种特定疾病的发病率。本文回顾了建立新生儿代谢筛查项目的基本原理以及所获信息的重要性。
