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Quality evaluation of newborn screening programs.

G Loeber1, D Webster, A Aznarez

  • 1National Institute of Public Health, Bilthoven, The Netherlands. gerard.loeber@rivm.nl

Acta Paediatrica (Oslo, Norway : 1992). Supplement
|January 8, 2000
PubMed
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Newborn screening programs vary widely worldwide, with inconsistent quality evaluation across analytical, pre-analytical, and post-analytical phases. This study surveyed global programs to highlight organizational differences and improve future screening practices.

Area of Science:

  • Medical Genetics
  • Public Health
  • Biochemistry

Background:

  • Newborn screening programs have expanded globally over four decades, traditionally focusing on phenylketonuria and congenital hypothyroidism.
  • Technological advancements enable screening for a broader range of disorders, yet program scope varies significantly between countries.
  • Decision-making for screening protocols is influenced by professional interest, legislation, and funding, leading to disparities.

Purpose of the Study:

  • To assess the global landscape of newborn screening programs.
  • To identify variations in organization, quality evaluation, and follow-up procedures.
  • To provide insights for improving worldwide newborn screening practices.

Main Methods:

  • A questionnaire was developed and distributed to leading newborn screening centers in over 30 countries.

Related Experiment Videos

  • Data collected focused on program organization, analytical, pre-analytical, and post-analytical phases.
  • Results were analyzed to identify global differences and trends.

    • Main Results:

    • Significant international variations were observed in program organization, turnaround times, coverage completeness, and follow-up.
    • Quality evaluation predominantly focused on the laboratory analytical phase, with less attention to pre- and post-analytical stages.
    • No correlation was found between screening procedures and the level of legislation or funding systems.

    Conclusions:

    • Global newborn screening programs exhibit substantial heterogeneity in structure and quality assurance.
    • A comprehensive approach to quality evaluation, encompassing all phases, is crucial for effective newborn screening.
    • Further research and international collaboration are needed to standardize and optimize newborn screening worldwide.