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Neonatal screening
1Institut de Bioquimica Clinica, Clinic Corporaciò Sanitària, Barcelona, Spain.
Insights
Neonatal screening (NS) identifies infants with serious health conditions for early intervention. Advances like tandem mass spectrometry expand screening, improving outcomes for more metabolic disorders.
Area of Science:
- Medical screening
- Preventive medicine
- Genetics
Background:
- Neonatal screening (NS) began for mental retardation prevention.
- Over 600 inborn metabolic disorders identified, but only 5% are screened.
- Low prevalence and lack of treatment limit current NS programs.
Purpose of the Study:
- Review technological and medical advancements in NS.
- Analyze factors influencing disease selection for NS.
- Explore social and organizational aspects of expanding NS.
Main Methods:
- Literature review of NS advancements.
- Analysis of technological impact (e.g., tandem mass spectrometry).
- Consideration of socio-organizational factors for NS expansion.
Main Results:
- Tandem mass spectrometry enables broader screening of metabolic disorders.
- Early detection through expanded NS demonstrates significant benefits.
- Prevalence of screened disorders is higher than previously estimated.
Conclusions:
- Technological progress is expanding the scope of NS.
- Social and organizational infrastructure are crucial for broadening NS.
- Optimizing NS requires a multi-faceted approach beyond just medical technology.
Abstract:
Neonatal screening (NS) is a medical act in the context of preventive medicine aimed at the early identification of infants affected by certain conditions that threaten their life and long-term health, for which a timely intervention can lead to a significant reduction of morbidity, mortality and associated disabilities. It emerged three decades ago in the context of prevention of mental retardation. Since then, around 600 inborn metabolic disorders have been described and technological progress has been impressive; nevertheless only around 5% of the disorders have been the object of NS. The most frequently cited reasons for the limitation are low prevalence and the lack of treatment. The tandem mass spectrometry has come in place in recent years across the globe, expanding NS to include several disorders of intermediary metabolism. This has shown, in addition to a prevalence much higher than previously thought, the benefits of early detection. The present work is a review of NS, not only from the point of view of technological/medical achievements, but also considering other factors which will affect specific disease selection, according to the social and organizational infrastructure that may expand the borders of NS.