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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
openaire   +4 more sources

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, Giulia Forni, Daniela Ombrone, Giancarlo la Marca   +3 more
doaj   +2 more sources

CDC’s Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy [PDF]

International Journal of Neonatal Screening
Spinal muscular atrophy (SMA) was added to the HHS Secretary’s Recommended Uniform Screening Panel for newborn screening (NBS) in 2018, enabling early diagnosis and treatment of impacted infants to prevent irreversible motor neuron damage.
Francis K. Lee, Christopher Greene, Kristina Mercer, Jennifer Taylor, Golriz Yazdanpanah, Robert Vogt, Rachel Lee, Carla Cuthbert, Suzanne Cordovado   +8 more
doaj   +2 more sources

Potentializing Newborn Screening [PDF]

Current Anthropology, 2013
Virtually all 4.25 million babies born annually in the United States are screened for more than 50 rare genetic conditions. In a country plagued with widespread health-service access problems, this remarkable public health achievement depends on policy visions of newborn screening as the linchpin of secondary prevention and saving children's lives ...
Timmermans, Stefan, Buchbinder, Mara
openaire   +7 more sources

American College of Medical Genetics and Genomics ACT Sheets Are a Vital Resource for State Newborn Screening Programs [PDF]

International Journal of Neonatal Screening
The American College of Medical Genetics and Genomics (ACMG) and the National Coordinating Center for the Regional Genetics Networks (NCC)-developed ACT sheets are a vital resource for state newborn screening (NBS) programs. They allow NBS programs to be
Virginia Sack, Sara Etienne, Grace Beal, Sarah Bradley, Michele Caggana   +4 more
doaj   +2 more sources

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

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, Ingjerd Sæves, Claus Klingenberg, Jens Jørgensen, Erle Kristensen, Gunnþórunn Gunnarsdottir, Eirik Vangsøy Hansen, Janne Strand, Emma Lundman, Sacha Ferdinandusse, Cathrin Lytomt Salvador, Berit Woldseth, Yngve T. Bliksrud, Carlos Sagredo, Øyvind E. Olsen, Mona C. Berge, Anette Kjoshagen Trømborg, Anders Ziegler, Jin Hui Zhang, Linda Karlsen Sørgjerd, Mari Ytre-Arne, Silje Hogner, Siv M. Løvoll, Mette R. Kløvstad Olavsen, Dionne Navarrete, Hege J. Gaup, Rina Lilje, Rolf H. Zetterström, Asbjørg Stray-Pedersen, Terje Rootwelt, Piero Rinaldo, Alexander D. Rowe, Rolf D. Pettersen   +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, C. Fan, Yonglan Huang, Jizhen Feng, Yin-hong Zhang, Jing-kun Miao, Xiaohua Wang, Yulin Li, Cidan Huang, Weiwei Jin, Cheng-fang Tang, Lulu Feng, Yifan Yin, Bo Zhu, Meng Sun, Xiulian Liu, Jiale Xiang, M. Tan, Liyun Jia, Lei Chen, Hui Huang, Huanhuan Peng, Xin Sun, Xuefan Gu, Zhiyu Peng, Baosheng Zhu, Hui Zou, L. Han   +27 more
semanticscholar   +1 more source

Butyrylcarnitine Elevation in Newborn Screening: Reducing False Positives and Distinguishing between Two Rare Diseases through the Evaluation of New Ratios

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, Alessia Arena, Riccardo Iacobacci, Luisa La Spina, Concetta Meli, Federica Raudino, Martino Ruggieri   +6 more
doaj   +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, Arzoo Ahmed, D. Deen, A. Ferlini, Nicolas Garnier, D. Kasperaviciute, Mathilde Leblond, Amanda Pichini, A. Rendon, Aditi Satija, Alice Tuff-Lacey, R. Scott   +11 more
semanticscholar   +1 more source

The Progress and Future of US Newborn Screening

International Journal of Neonatal Screening, 2022
Progress in newborn screening (NBS) has been driven for 60 years by developments in science and technology, growing consumer advocacy, the actions of providers involved in the care of rare disease patients, and by federal and State government funding and
Michael S Watson, M. Lloyd-Puryear, R. Howell   +2 more
semanticscholar   +1 more source