Evaluation of a nation-wide neonatal metabolic screening programme in Sweden 1965-1979

Abstract

In Sweden, neonatal screening for phenylketonuria was started in 1965 and a total of 1 326 000 infants were studied up to 1979. During various periods of time, screening was also carried out for galactosaemia, hereditary tyrosinaemia, histidinaemia, and homocystinuria. In screening for phenylketonuria and galactosaemia no false-negative results were obtained and the incidences were 1/30 850 and 1/81 100, respectively. In screening for hereditary tyrosinaemia only 1 out of 6 patients was identified by screening and the incidence was 1/106 710. Two cases of histidinaemia were detected, which corresponds to an incidence of 1/36 840. Both children developed normally without any treatment. No child with homocystinuria was detected in the screened population of more than 300 000 newborn infants. A screening programme involving phenylketonuria and galactosaemia was considered to be optimal among the tested disorders.