Current status of newborn screening worldwide: 2015

Bradford L. Therrell, Carmencita David Padilla, J. Gerard Loeber, Issam Kneisser, Amal Saadallah, Gustavo J.C. Borrajo, John Adams

Research output: Contribution to journalReview article

170 Scopus citations

Abstract

Newborn screening describes various tests that can occur during the first few hours or days of a newborn's life and have the potential for preventing severe health problems, including death. Newborn screening has evolved from a simple blood or urine screening test to a more comprehensive and complex screening system capable of detecting over 50 different conditions. While a number of papers have described various newborn screening activities around the world, including a series of papers in 2007, a comprehensive review of ongoing activities since that time has not been published. In this report, we divide the world into 5 regions (North America, Europe, Middle East and North Africa, Latin America, and Asia Pacific), assessing the current NBS situation in each region and reviewing activities that have taken place in recent years. We have also provided an extensive reference listing and summary of NBS and health data in tabular form.

Original languageEnglish (US)
Pages (from-to)171-187
Number of pages17
JournalSeminars in Perinatology
Volume39
Issue number3
DOIs
StatePublished - Apr 1 2015

Keywords

  • Inborn errors of metabolism
  • International screening
  • Newborn screening
  • Rare disease screening

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology

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    Therrell, B. L., Padilla, C. D., Loeber, J. G., Kneisser, I., Saadallah, A., Borrajo, G. J. C., & Adams, J. (2015). Current status of newborn screening worldwide: 2015. Seminars in Perinatology, 39(3), 171-187. https://doi.org/10.1053/j.semperi.2015.03.002