Mass Screening of Newborns in Ireland

Phenylketonuria was, until recently, regarded as a very rare disease with an estimated incidence of between 1 in 18,000 and 1 in 40,000 (Centerwall, Berry, and Woolf, 1963). The results of massscreening surveys of newborns in the United States showed that the incidence was approximately 1 in 10,000 (MacCready and Hussey, 1964), while a similar experience in Israel showed an incidence of 1 in 9000 (Cohen et al., 1966). The early detection of phenylketonuria, followed by dietary restriction of phenylalanine, provides the best hope of avoiding mental retardation in this condition. The introduction of a simple microbiological inhibition method for the estimation of blood phenylalanine has made it possible to carry out large-scale screening programmes on newborn infants (Guthrie and Susi, 1963). The suitability of the Guthrie method was assessed in a pilot project in Dublin (Cahalane, 1964), and, subsequently, it was decided to make the method generally available, so that all newborn infants in the Republic of Ireland could be tested (Lancet, 1966). A description of the organization of this nation-wide testing programme, and of the results achieved in the first 16 months of its operation, is given in this report. The State Department of Health decided on the establishment of the scheme and undertook the financial commitment. A central laboratory was established in the Pathology Department of the Children's Hospital, Temple Street, Dublin. Preliminary publicity was based on lectures and talks to medical societies and on announcements in appropriate medical journals. The press, radio, and television services co-operated in informing the general public. Testing began on February 1, 1966, and those concerned with the newborn, i.e. paediatricians, obstetricians, public health authorities, hospital