Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS) [PDF]
JIMD Reports, 2012 We describe a case of Argininemia detected by Michigan Newborn Screening (NBS). The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children recommends that every MS/MS newborn screening program include Argininemia as part of their uniform screening panel.
Allison, Jay +3 more
exaly +3 more sources
A Practical Guide to Implementing Population Newborn Screening (NBS) for Severe Combined Immunodeficiency (SCID) [PDF]
International Journal of Neonatal Screening, 2017 This review should be seen as a practical tool, one which we hope illustrates potential routes to follow when seeking to implement or lobby for severe combined immunodeficiency newborn screening (SCID NBS) at a national or regional level. Experience has shown that there are country- and region-wide variations in terms of awareness of the need for SCID ...
Hubert Gaspar
exaly +4 more sources
Parents’ Experiences of Receiving the Initial Positive Newborn Screening (NBS) Result for Cystic Fibrosis and Sickle Cell Disease [PDF]
Journal of Genetic Counseling, 2016 AbstractThe clinical advantages of the newborn screening programme (NBS) in the UK are well described in the literature. However, there has been little exploration of the psychosocial impact on the family. This study followed the principles of grounded theory to explore parents’ experiences of receiving the initial positive NBS result for their child ...
Alison Metcalfe +2 more
exaly +7 more sources
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Treatment for severe combined immunodeficiency (SCID) in the era of newborn screening (NBS)
The Journal of Immunology, 2017Abstract SCID is associated with excellent survival when treated with allogeneic hematopoietic cell transplantation (HCT), gene therapy (GT), or enzyme replacement therapy (ERT) within 3–4 months of birth or prior to infection. NBS for SCID results in the diagnosis by 2–3 weeks of age.
Justin Wahlstrom +4 more
openaire +1 more source
Promises and challenges of genomic newborn screening (NBS) – lessons from public health NBS programs
Pediatric ResearchNewborn screening (NBS) in the United States began in the 1960s to detect inborn errors of metabolism that benefited from presymptomatic treatment compared with treatment after the development of symptoms and diagnosis. Over time, it expanded to include endocrinological disorders, hematological disorders, immunodeficiencies, and other treatable ...
Mari Mori +3 more
openaire +2 more sources
P.072 Alberta Spinal Muscular Atrophy Newborn Screening (SMA-NBS) – 2022 results
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2023Background: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic mutations of the survival motor neuron 1 (SMN1) gene. Early diagnosis via newborn screening and presymptomatic treatment are essential to optimize health outcomes for affected individuals.
JK Mah +5 more
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Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BEACONS-NBS
Abstract Introduction BEACONS-NBS (Building Evidence and Collaboration for GenOmics in Nationwide Newborn Screening) is the first research study to integrate whole genome sequencing into newborn screening (NBS) across multiple U.S. states and territorial public health laboratory programs (PHLPs).Nina B. Gold +84 more
openaire +1 more source
POSITIVE NEWBORN SCREEN (NBS) SECONDARY TO CONGENITAL CYTOMEGALOVIRUS (CMV) INFECTION
Molecular Genetics and Metabolism, 2023Caterina Abdala Villa +2 more
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Stable lung function is maintained over 2 years in newborn screened (NBS) CF infants
European Respiratory Journal, 2013Background :Lung function in LCFC NBS CF infants was impaired by age 3-months (3m) compared to healthy controls. 1 However forced expiratory volume (FEV 0.5 ) improved by 1-year (1y) while lung clearance index (LCI) and ...
Lena Priscilla Thia +10 more
openaire +1 more source
EMBRACING USE OF TELEMEDICINE IN METABOLIC NEWBORN SCREENING (NBS) FOLLOW-UP
Molecular Genetics and Metabolism, 2023Sarah Viall, Leah Wessenberg
openaire +1 more source