ABSTRACT
Phenylketonuria (PKU) and congenital hypothyroidism (CHT) are congenital disorders which, if they are not treated promptly lead to, among other things, serious mental retardation. The screening for PKU and CHT is a form of standardized programmed prevention. The aim of the screening is to detect the disorders at the earliest possible stage so that, through prompt treatment, the consequences of the diseases can be prevented. This chapter discusses the disorders are described, then the organization of the screening. Subsequently, the effectiveness of the two screenings is looked at, and a cost-benefit analysis of each screening is made. Finally, a number of questions are raised in the conclusions, and the recommendations of the Project Group are given. The effectiveness and efficiency of a screening programme is partly determined by good organization, continuous monitoring and evaluation. The chapter discusses the effectiveness, cost-benefit analysis, treatments, and the methods of screening for CHT and PKU.
