Results 31 to 40 of about 1,360,274 (268)

A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease

International Journal of Neonatal Screening, 2022
The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme deficiencies give rise to progressive symptoms.
Kabir Jalal, Randy L. Carter, Amy Barczykowski, Shunji Tomatsu, Thomas J. Langan   +4 more
doaj   +1 more source

Cystic fibrosis newborn screening: using experience to optimize the screening algorithm

, 2012
Newborn screening (NBS) for cystic fibrosis (CF) offers the opportunity for early diagnosis and improved outcomes in patients with CF and has been universally available in the state of Massachusetts since 1999 using an immunoreactive trypsinogen (IRT ...
Dorkin, Henry L., Spencer, L. Terry, Gerstle, Robert, O'Sullivan, Brian P., Parad, Richard B., Yee, William, Hale, Jaime E, Comeau, Anne Marie, Lapey, Allen   +8 more
core   +1 more source

Including ELSI research questions in newborn screening pilot studies [PDF]

, 2019
Background The evidence review processes for adding new conditions to state newborn screening (NBS) panels rely on data from pilot studies aimed at assessing the potential benefits and harms of screening.
Bonhomme, Natasha, Brosco, Jeffrey P., Wilfond, Benjamin S, Bush, Lynn, Goldenberg, Aaron J., Therrell, Bradford, Berry, Susan, Bowdish, Bruce, Crawford, Thomas, Brosco, Jeffrey P, Howell, R. Rodney, Clarke, Angus, Brower, Amy, Brosco, Jeffrey, Orren, David, Chrysler, Denise, Lloyd-Puryear, Michele, Watson, Michael, Wilfond, Benjamin S., Howell, R Rodney, Goldman, Edward, Hiner, Sally, Goldenberg, Aaron J   +22 more
core   +1 more source

Newborn Screening and Treatment of Phenylketonuria: Projected Health Outcomes and Cost-Effectiveness

Children, 2021
The objective of this study was to evaluate the cost-effectiveness of newborn screening and treatment for phenylketonuria (PKU) in the context of new data on adherence to recommended diet treatment and a newly available drug treatment (sapropterin ...
Huey-Fen Chen, Angela M. Rose, Susan Waisbren, Ayesha Ahmad, Lisa A. Prosser   +4 more
doaj   +1 more source

Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency

, 2012
Severe combined immunodeficiency (SCID) is a Primary Immune Deficiency that is under consideration for population-based newborn screening (NBS) by many NBS programs, and has recently been recommended for inclusion in the US uniform panel of newborn ...
Pai, Sung-Yun, DeMaria, Alfred, Meissner, H. Cody, Bonilla, Francisco A., Cooper, Ellen Rae, Pasternack, Mark S., Notarangelo, Luigi D., Sahai, Inderneel, Comeau, Anne Marie, Hale, Jaime E, Eaton, Roger B.   +10 more
core   +1 more source

Integrated Newborn Screening in Nigeria: The Way Forward, A Workshop Report

International Journal of Neonatal Screening
Newborn screening (NBS) is a cost-effective public health strategy for the early detection of congenital disorders that cause neonatal/infant morbidity and mortality. It is standard care in many high-income and emerging economies.
Olumuyiwa S. Folayan, Bose E. Orimadegun, Adejumoke I. Ayede, Baba P. Inusa, Marika K. Kase, John I. Anetor   +5 more
doaj   +1 more source

Technical feasibility of newborn screening for spinal muscular atrophy by next-generation DNA sequencing

Frontiers in Genetics, 2023
Newborn screening (NBS) assays for spinal muscular atrophy (SMA) typically use a polymerase chain reaction (PCR) based assay to identify individuals with homozygous deletion in exon 7 of the SMN1 gene.
Bennett O. V. Shum, Bennett O. V. Shum, Ilya Henner, Anita Cairns, Carel Pretorius, Urs Wilgen, Paulette Barahona, Jacobus P. J. Ungerer, Jacobus P. J. Ungerer, Glenn Bennett   +9 more
doaj   +1 more source

Cystic Fibrosis Newborn Screening: Progress and Perspectives. [PDF]

Int J Neonatal Screen
Newborn screening (NBS) for cystic fibrosis (CF) was first implemented almost 50 years ago, and many improvements have been made to the initial algorithms, educational approaches, and available therapies [...]
Sontag MK, McColley SA.
europepmc   +2 more sources

Charting the Ethical Frontier in Newborn Screening Research: Insights from the NBSTRN ELSI Researcher Needs Survey

International Journal of Neonatal Screening
From 2008 to 2024, the Newborn Screening Translational Research Network (NBSTRN), part of the National Institute of Child Health and Human Development (NICHD) Hunter Kelly Newborn Screening Program, served as a robust infrastructure to facilitate ...
Yekaterina Unnikumaran, Mei Lietsch, Amy Brower   +2 more
doaj   +1 more source

Ethical and Psychosocial Implications of Genomic Newborn Screening

International Journal of Neonatal Screening, 2021
The potential for genomic screening of the newborn, specifically adding genomic screening to current newborn screening (NBS), raises very significant ethical issues.
Harvey L. Levy
doaj   +1 more source