Genomic newborn screening: are we entering a new era of screening?

U Spiekerkoetter, D Bick, R Scott… - Journal of Inherited …, 2023 - Wiley Online Library
Population newborn screening (NBS) for phenylketonuria began in the United States in
1963. In the 1990s electrospray ionization mass spectrometry permitted an array of …

The national Austrian newborn screening program-eight years experience with mass spectrometry. past, present, and future goals.

DC Kasper, R Ratschmann, TF Metz… - Wiener Klinische …, 2010 - search.ebscohost.com
Background: The National Austrian Newborn Screening Program for inherited metabolic and
endocrinologic disorders was introduced in 1966. The program continuously evolved by …

Newborn screening in North America

BL Therrell, J Adams - … Disease: Official Journal of the Society …, 2007 - Wiley Online Library
Summary Newborn screening in North America dates to the early work of Bob Guthrie in the
USA. Screening programmes in both the USA and Canada began in the early 1960s, with …

Efficacy and outcome of expanded newborn screening for metabolic diseases-Report of 10 years from South-West Germany

M Lindner, G Gramer, G Haege… - Orphanet journal of rare …, 2011 - Springer
Background National newborn screening programmes based on tandem-mass spectrometry
(MS/MS) and other newborn screening (NBS) technologies show a substantial variation in …

Committee report: considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn …

BL Therrell, WH Hannon, DB Bailey, EB Goldman… - Genetics in …, 2011 - nature.com
Newborn screening programs are state based with variable policies. Guidance regarding
the retention, storage, and use of portions of newborn screening dried blood spots that …

Newborn screening

B Wilcken, V Wiley - Pathology, 2008 - Taylor & Francis
The aim of newborn screening is to detect newborns with serious, treatable disorders so as
to facilitate appropriate interventions to avoid or ameliorate adverse outcomes. Mass …

Selective screening for inborn errors of metabolism—past, present and future

GF Hoffmann - European journal of pediatrics, 1994 - Springer
Selective screening for hereditary metabolic disorders has developed from a highly
specialized activity, provided mostly by research oriented scientists, to an important …

Expanded newborn screening in Europe 2007

OA Bodamer, GF Hoffmann, M Lindner - Journal of Inherited Metabolic …, 2007 - Springer
Summary By January 2007 seven European countries had expanded, and more are
considering the expansion of their newborn screening programmes by inclusion of ESI …

European experience with prenatal diagnosis of congenital disease: a survey of 6121 cases

H Galjaard - Cytogenetic and Genome Research, 1976 - karger.com
The results of 6121 prenatal diagnoses established by 46 centers in eight West-European
countries are reported. The percentage of “spontaneous” abortions following early …

The stability of markers in dried-blood spots for recommended newborn screening disorders in the United States

BW Adam, EM Hall, M Sternberg, TH Lim, SR Flores… - Clinical …, 2011 - Elsevier
OBJECTIVE: We aimed to measure separately the contributions of heat and humidity to
changes in levels of 34 markers of inborn disorders in dried-blood-spot (DBS) samples …