A Clinician’s View of the Mass Screening of the Newborn for Inherited Diseases: Current Practice and Future Considerations

  • I. B. Sardharwalla
  • J. E. Wraith

Summary

The case for or against mass screening for inherited diseases is discussed. There is universal acceptance for mass screening for phenylketonuria and congenital hypothyroidism. The case for mass screening for galactosaemia and for maple syrup urine disease is not very strong; they could be considered under the heading of ‘urgent screening of the sick newborn’. It is difficult to find good arguments for mass screening for congenital adrenal hyperplasia. For screening for glucose-6-phosphate dehydrogenase deficiency and sickle cell disease, the established criteria for mass screening do not apply. A simple tool for early detection is now available and the population afflicted with a mutant gene which causes major health problems should receive special attention from its government. It is too early to offer any comment about cystic fibrosis screening; further developments must be awaited.

Keywords

Cystic Fibrosis Sickle Cell Disease Congenital Adrenal Hyperplasia Newborn Screening Elsevier Science Publisher 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© SSIEM and Kluwer Academic Publishers 1989

Authors and Affiliations

  • I. B. Sardharwalla
    • 1
  • J. E. Wraith
    • 1
  1. 1.Willink Biochemical Genetics UnitRoyal Manchester Children’s HospitalPendlebury, ManchesterUK

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