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Related Experiment Videos

Neonatal screening for biochemical disorders.

J B Holton1

  • 1Department of Clinical Chemistry, Southmead Hospital, Bristol.

British Journal of Hospital Medicine
|April 1, 1988
PubMed
Summary

Neonatal screening programs for phenylketonuria and hypothyroidism are common. This article explores principles and candidate diseases for expanding newborn screening beyond these established tests.

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Area of Science:

  • Medical Genetics
  • Public Health
  • Neonatal Medicine

Background:

  • Established neonatal screening programs in developed countries primarily focus on phenylketonuria and hypothyroidism.
  • There is ongoing debate regarding the expansion of newborn screening to include additional disorders.

Purpose of the Study:

  • To outline the fundamental principles of neonatal screening.
  • To review a diverse spectrum of diseases that could be considered for inclusion in expanded newborn screening programs.

Main Methods:

  • Literature review of established and potential neonatal screening candidates.
  • Analysis of the principles guiding the selection of disorders for screening.

Main Results:

  • Neonatal screening for phenylketonuria and hypothyroidism is widely implemented.
  • A broad range of potential candidate diseases for neonatal screening has been identified and evaluated.

Conclusions:

  • The decision to expand neonatal screening programs requires careful consideration of established principles.
  • Further evaluation is needed to determine which additional diseases should be incorporated into routine newborn screening.

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