Universal newborn screening: A roadmap for action

C. P. Howson, B. Cedergren, R. Giugliani, P. Huhtinen, C. D. Padilla, C. S. Palubiak, M. D. Santos, I. V.D. Schwartz, B. L. Therrell, A. Umemoto, J. Wang, X. Zeng, X. Zhao, N. Zhong, E. R.B. McCabe

Research output: Contribution to journalComment/debate

11 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)177-183
Number of pages7
JournalMolecular Genetics and Metabolism
Volume124
Issue number3
DOIs
StatePublished - Jul 2018

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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