Universal newborn screening: A roadmap for action

Mol Genet Metab. 2018 Jul;124(3):177-183. doi: 10.1016/j.ymgme.2018.04.009. Epub 2018 Apr 25.

Abstract

Newborn screening (NBS) prevents morbidity and mortality by screening babies for selected disorders in the first days of life so that early diagnosis and treatment can be initiated. Congenital disorders impact an estimated 8 million or 6% of annual births worldwide, and of the top five that contribute 25% to the global burden of these disorders, three can be identified and managed by NBS. There are determined pockets of activity in Latin America, Sub-Saharan Africa, and the Asia Pacific region, where partnerships among government, non-governmental organizations, academia, the private sector and civil society are developing novel NBS programs that are both saving lives and preventing disability in those who survive.

Publication types

  • Historical Article

MeSH terms

  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / epidemiology
  • Genetic Diseases, Inborn / genetics*
  • Genetics, Population
  • Global Health
  • History, 20th Century
  • History, 21st Century
  • Humans
  • Infant, Newborn
  • Neonatal Screening / history*
  • Neonatal Screening / methods*