title: Review of neonatal screening programme for phenylketonuria.
abstract: OBJECTIVE
  To review the neonatal screening programme during 1984-8.
  
  
  METHODS
  Analysis of data from screening laboratories and paediatricians.
  
  
  METHODS
  All live births in United Kingdom.
  
  
  METHODS
  Structure of programme; number of infants tested and number with phenylketonuria; number of infants missed; ages at testing and treatment.
  
  
  RESULTS
  The proportion of infants tested approached 100%. The incidence of phenylketonuria was 11.7/100,000 births (445 subjects): 273 had classic phenylketonuria and three had defects of cofactor metabolism. One child with phenylketonuria was known to have been missed compared with three in 1979-83 and six in 1974-8. Seven subjects had been missed over the 15 years due to negative test results. All seven had been tested with the bacterial inhibition assay, although only 53% of infants had been so tested; the difference between the expected and observed proportion was significant (Fisher's exact test, p = 0.017). Eleven infants with classic phenylketonuria were not tested by 14 days of age and 23 (8%) did not start treatment until after 20 days, an improvement compared with 36 (15%) in 1979-83. There were, however, wide regional variations (0% to 27% treated after 20 days).
  
  
  CONCLUSIONS
  The screening programme achieves high coverage and effectiveness, although some children are still missed. A national practice for screening may help reduce regional variations.
authors.affiliation: Medical Research Council/Department of Health Phenylketonuria Register, Department of Child Health, London.
authors.forename: I
authors.initials: I
authors.lastname: Smith
authors.forename: B
authors.initials: B
authors.lastname: Cook
authors.forename: M
authors.initials: M
authors.lastname: Beasley
mesh_terms: D000367:Age Factors; D019411:Clinical Laboratory Techniques / Q000592:standards; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods / Q000592:standards*; D010661:Phenylketonurias / Q000175:diagnosis / Q000453:epidemiology*; D006113:United Kingdom