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Neonatal screening for biochemical disorders
1Department of Clinical Chemistry, Southmead Hospital, Bristol.
British Journal of Hospital Medicine
|April 1, 1988
Insights
Neonatal screening programs for phenylketonuria and hypothyroidism are common. This article explores principles and candidate diseases for expanding newborn screening beyond these established tests.
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.
Abstract:
Neonatal screening for phenylketonuria and hypothyroidism is well established in most developed countries but there is no clear agreement on which other disorders, if any, should be added to screening programmes. This article describes the basic principles involved and looks at a wide range of diseases which may be considered as candidates for neonatal screening.