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Universal newborn screening: A roadmap for action

C P Howson1, B Cedergren2, R Giugliani3

  • 1Howson & Partners for Global Health, Santa Fe, NM, USA.

Molecular Genetics and Metabolism
|June 10, 2018
PubMed

Insights

Newborn screening (NBS) identifies serious congenital disorders in newborns, enabling early treatment to prevent severe illness and death. Expanding NBS programs globally saves lives and prevents disabilities in infants worldwide.

Area of Science:

  • Medical Genetics
  • Public Health
  • Pediatrics

Background:

  • Congenital disorders affect approximately 8 million newborns annually worldwide.
  • Newborn screening (NBS) is crucial for early detection and management of treatable infant disorders.
  • Effective NBS programs prevent significant morbidity and mortality.

Observation:

  • Three of the top five congenital disorders contributing to the global burden are identifiable and manageable through NBS.
  • NBS programs are emerging in Latin America, Sub-Saharan Africa, and the Asia Pacific.
  • These initiatives involve diverse partnerships, including government, NGOs, academia, and the private sector.

Findings:

  • Novel NBS programs are being developed through collaborative efforts in various global regions.
  • These programs are successfully saving infant lives and preventing long-term disabilities.
  • The expansion of NBS demonstrates a growing commitment to infant health globally.

Implications:

  • Widespread implementation of NBS can substantially reduce the global burden of congenital disorders.
  • Strengthening international partnerships is key to advancing NBS accessibility and effectiveness.
  • Early diagnosis and treatment through NBS significantly improve long-term health outcomes for affected children.

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