SCREENING OF NEWBORN INFANTS FOR METABOLIC DISEASE

Abstract

AN OPPORTUNITY to establish screening procedures for case-finding in a number of metabolic diseases now exists in the United States, because most infants are born in hospitals where appropriate screening can easily be carried out. Case-finding in the neonatal period facilitates early inauguration of therapy, genetic counseling, and improved understanding of the natural history and incidence of metabolic diseases. The Committee on Fetus and Newborn considered four types of screening programs: (1) screening of all newborn infants, (2) screening of specific groups of neonates with increased risk of certain disorders, (3) large scale, pilot-screening programs, designed primarily for research and acquisition of knowledge about the natural history of disease, (4) screening of expectant mothers, particularly using tests of amniotic fluid. The committee did not consider screening of older children. However, it is emphasized that a number of important diseases, e.g., Wilson's disease, cannot be detected by screening in the first few days of life. In evaluating screening tests for specific diseases, the Committee based its recommendations on the following criteria: 1. Does the seriousness of the disorder justify screening? 2. Is therapy for the disease in question available? 3. Is there a clearly identifiable segment of the population with an increased incidence of this disease? 4. Is it possible to perform reliable screening during the first few days of life? 5. Can the screening test be performed in a routine service laboratory? 6. Is the test acceptable to the physician and to a majority of parents? 7. Is the cost of the test acceptable?