Results 1 to 10 of about 1,811,017 (262)
Development of Strategies to Decrease False Positive Results in Newborn Screening
International Journal of Neonatal Screening, 2020 The expansion of national newborn screening (NBS) programmes has provided significant benefits in the diagnosis and early treatment of several rare, heritable conditions, preventing adverse health outcomes for most affected infants.
Sabrina Malvagia +3 more
doaj +2 more sources
Genetic Screening of Newborns [PDF]
Annual Review of Genomics and Human Genetics, 2000 Screening of newborn infants for genetic disease began over 35 years ago as a public health measure to prevent mental retardation in phenylketonuria (PKU). It was so successful that tests for several other genetic disorders were added. We review the current status of this screening, including discussions of the genetic disorders often covered and the ...
Harvey L. Levy, Simone Albers
openalex +4 more sources
International Journal of Neonatal Screening, 2020 In 2012, the Norwegian newborn screening program (NBS) was expanded (eNBS) from screening for two diseases to that for 23 diseases (20 inborn errors of metabolism, IEMs) and again in 2018, to include a total of 25 conditions (21 IEMs).
Trine Tangeraas +32 more
doaj +2 more sources
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening
JAMA Network Open, 2023 Key Points Question What are the benefits of applying gene panel sequencing as a first-tier newborn screening test at a population scale? Findings In this cohort study including 29 601 newborns, gene panel sequencing of 128 diseases as first-tier ...
Ting Chen +27 more
semanticscholar +1 more source
Biomedicines, 2023 One of the main challenges of newborn screening programs, which screen for inherited metabolic disorders, is cutting down on false positives (FPs) in order to avoid family stresses, additional analyses, and unnecessary costs.
MariaAnna Messina +6 more
doaj +1 more source
Newborn Screening for Fabry Disease: Current Status of Knowledge
International Journal of Neonatal Screening, 2023 Fabry disease is an X-linked progressive lysosomal disorder, due to α-galactosidase A deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic disease.
V. Gragnaniello +8 more
semanticscholar +1 more source
Newborn Screening by Genomic Sequencing: Opportunities and Challenges
International Journal of Neonatal Screening, 2022 Newborn screening for treatable disorders is one of the great public health success stories of the twentieth century worldwide. This commentary examines the potential use of a new technology, next generation sequencing, in newborn screening through the ...
D. Bick +11 more
semanticscholar +1 more source
Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis
International Journal of Neonatal Screening, 2022 Genomic advances have contributed to a proliferation of newborn screening (NBS) programs. Psychosocial consequences of NBS have been identified as risks to these public health initiatives.
A. Tluczek, Anne L. Ersig, S. Lee
semanticscholar +1 more source
Newborn screening for homocystinuria [PDF]
Cochrane Database of Systematic Reviews, 2010 Homocystinuria is a rare inherited disorder due to a deficiency in cystathionine beta synthase. Individuals with this condition appear normal at birth but develop serious complications in childhood. Diagnosis and treatment started sufficiently early in life can effectively prevent or reduce the severity of these complications.
Tracey Remmington +2 more
openaire +5 more sources
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
International Journal of Neonatal Screening, 2022 Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medicine, as it allows early diagnosis and prompt treatment initiation.
M. Ruoppolo +49 more
semanticscholar +1 more source