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Semin Perinatol. 2015 Apr;39(3):171-87. doi: 10.1053/j.semperi.2015.03.002.

Current status of newborn screening worldwide: 2015.

Author information

1
National Newborn Screening and Genetics Resource Center (NNSGRC), Austin, TX; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX. Electronic address: therrell@uthscsa.edu.
2
College of Medicine, University of the Philippines Manila, Manila, Philippines; Newborn Screening Reference Center, National Institutes of Health (Philippines), Manila, Ermita, Philippines.
3
International Society for Neonatal Screening, Bilthoven, Netherlands.
4
Newborn Screening Unit, Medical Genetic Unit, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.
5
Newborn Screening and Biochemical Genetics Laboratory, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
6
Programa de Detección de Errores Congénitos, Fundación Bioquímica Argentina, La Plata, Argentina.
7
Canadian Organization for Rare Disorders, Toronto, Ontario, Canada.

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.

KEYWORDS:

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

PMID:
25979780
DOI:
10.1053/j.semperi.2015.03.002
[Indexed for MEDLINE]

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