Recommended Guidelines for Screening Programs for Hyperphenylalaninemia in Newborn Infants

Abstract

In 1966 the U.S. Department of Health, Education, and Welfare issued Recommended Guidelines for PKU Programs for the Newborn1 to assist health departments and others in establishing screening services. Programs now function in most states, and it would be pointless to reiterate the information conveyed ten years ago. However, there are problems that must be addressed, particularly in light of new possibilities: 1. PKU screening is often of less than optimal (and attainable) effectiveness. 2. Parents are poorly informed about screening, the use of specimens, and results. 3. Neonatal screening tests for other conditions are available, but the question arises of when they should be used on a population-wide basis. New developments related to these areas are reviewed in the first part of this report. Recommendations are presented in the second part. This document is intended primarily for those involved in the organization and regulation of screening as a service (Fig. 1). As the objective "is to find affected subjects at a time when intervention may prevent the ill effects of the disease," responsibility includes assuring that efficacious therapy will be effectively provided. Procedures involved in the diagnosis and management of PKU that will be of interest to those providing care to infants with presumptive positive screening tests are dealt with in other publications.2,3 NEW DEVELOPMENTS PKU Prognosis. There can no longer be any doubt that the early institution of a diet low in phenylalanine is efficacious in preventing retardation from PKU. The IQ (mean ± SD) at 4 years of age in 111 children with PKU identified as a result of neonatal screening was 93 ± 16.4.4