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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
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Challenges for Worldwide Harmonization of Newborn Screening Programs.

Eduardo Martínez-Morillo1, Belén Prieto García2, Francisco V Álvarez Menéndez2

  • 1Metabolic Diseases Laboratory, Laboratory of Medicine, Department of Clinical Biochemistry, Hospital Universitario Central de Asturias, Oviedo, Spain. edumartinezmorillo@gmail.com.

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Summary

Newborn screening (NBS) programs identify infants with inherited metabolic disorders (IMDs). Harmonizing screening panels and addressing challenges are crucial for optimizing NBS effectiveness worldwide.

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Area of Science:

  • Biochemistry
  • Genetics
  • Public Health

Background:

  • Inherited metabolic disorders (IMDs) result from metabolic pathway defects, potentially causing fatal conditions not evident at birth.
  • Newborn screening (NBS) identifies these conditions in asymptomatic infants for early intervention.

Purpose of the Study:

  • To review evidence-based processes for assessing and expanding NBS programs.
  • To discuss the harmonization of IMDs screened across global NBS programs.
  • To highlight challenges and controversial points in expanded NBS strategies.

Main Methods:

  • Review of current evidence-based processes for NBS program assessment and expansion.
  • Analysis of proposed uniform screening panels in the US and EU.
  • Discussion of recently introduced IMDs in screening programs.

Main Results:

  • Tandem mass spectrometry has expanded NBS, but led to heterogeneity in screened IMDs.
  • Uniform screening panels have been proposed to harmonize NBS.
  • Newer IMDs like SCID, LSDs, and ALD are being incorporated into some NBS programs.

Conclusions:

  • NBS is a vital public health tool but requires optimization.
  • Harmonization of NBS programs globally is ongoing but faces challenges.
  • Addressing controversial points and confronting challenges is essential for effective expanded NBS strategies.