Current status of newborn screening worldwide: 2015

Bradford L Therrell1, Carmencita David Padilla2, J Gerard Loeber3

  • 1National Newborn Screening and Genetics Resource Center (NNSGRC), Austin, TX; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX.

Insights

Newborn screening (NBS) has advanced to detect over 50 conditions, preventing severe health issues. This report reviews global NBS activities by region since 2007, offering a comprehensive overview.

Area of Science:

  • Medical screening
  • Public health
  • Pediatrics

Background:

  • Newborn screening (NBS) has evolved significantly, expanding from basic tests to comprehensive systems detecting over 50 conditions.
  • Previous reviews of global NBS activities exist, but a comprehensive update since 2007 was lacking.

Purpose of the Study:

  • To provide a comprehensive review of global newborn screening activities and advancements since 2007.
  • To assess the current state of NBS programs across five major world regions.

Main Methods:

  • Systematic review of global newborn screening activities.
  • Categorization of the world into five regions: North America, Europe, Middle East and North Africa, Latin America, and Asia Pacific.
  • Analysis of recent NBS developments and data within each region.

Main Results:

  • Newborn screening now detects over 50 conditions, significantly enhancing early disease detection and prevention.
  • The report details regional variations and progress in NBS implementation worldwide.
  • Extensive reference lists and summarized NBS health data are provided in tabular format.

Conclusions:

  • A comprehensive, up-to-date review of global newborn screening activities is crucial for understanding current practices and future directions.
  • Regional assessments highlight the evolving landscape of NBS programs internationally.
  • This report serves as a valuable resource for researchers, clinicians, and policymakers in the field of newborn health.

Related Concept Videos