I Smith1, B Cook, M Beasley. 1. Medical Research Council/Department of Health Phenylketonuria Register, Department of Child Health, London.
Abstract
OBJECTIVE: To review the neonatal screening programme during 1984-8. DESIGN: Analysis of data from screening laboratories and paediatricians. SUBJECTS: All live births in United Kingdom. MAIN OUTCOME MEASURES: 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). CONCLUSION: The screening programme achieves high coverage and effectiveness, although some children are still missed. A national practice for screening may help reduce regional variations.
OBJECTIVE: To review the neonatal screening programme during 1984-8. DESIGN: Analysis of data from screening laboratories and paediatricians. SUBJECTS: All live births in United Kingdom. MAIN OUTCOME MEASURES: 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). CONCLUSION: 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: Y Okano; R C Eisensmith; F Güttler; U Lichter-Konecki; D S Konecki; F K Trefz; M Dasovich; T Wang; K Henriksen; H Lou Journal: N Engl J Med Date: 1991-05-02 Impact factor: 91.245
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