Results 151 to 160 of about 1,360,274 (268)

Parents’ views on accepting, declining, and expanding newborn bloodspot screening: poster

, 2022
Newborn bloodspot screening (NBS) aims at early detection of treatable disorders to offer early intervention. The number of conditions being screened for is expanding, whichmay affect public acceptance of NBS.
Kemp, S., Klapwijk, J.E., Kater-Kuipers, A., Ploeg, C.P.B. van der, Wins, S., Bosch, L.J.M. van den, Henneman, L., Pal, S. van der, Dijk, T. van, Jans, S.M.P.J., Verschoof-Puitte, R.K.   +10 more
core  

Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements

International Journal of Neonatal Screening
Krabbe disease (KD) is part of newborn screening (NBS) in 11 states with at least one additional state preparing to screen. In July 2021, KD was re-nominated for addition to the federal Recommended Uniform Screening Panel (RUSP) in the USA with a two ...
Dietrich Matern, K. Basheeruddin, Tracy L Klug, Gwendolyn McKee, Patricia U. Edge, P. L. Hall, Joanne Kurtzberg, Joseph J. Orsini   +7 more
semanticscholar   +1 more source

Editorial: Special Issue “Genetic Newborn Screening”

Traditional newborn screening (NBS) is performed by measuring disease-specific biomarkers using the latest state-of-the-art technologies [...
Hisahide Nishio, Hiroyuki Awano
core   +1 more source

Newborn screening initiatives for sickle cell disease in Africa.

Hematology. American Society of Hematology. Education Program
Sickle cell disease (SCD) is a genetic blood disorder in high prevalence in sub-Saharan Africa (SSA) that leads to high morbidity and early mortality. Newborn screening (NBS) with evidence-based interventions saves lives of individuals with SCD.
O. Nnodu, C. Okeke, H. Isa
semanticscholar   +1 more source

Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience

World Journal of Pediatrics
Newborn screening (NBS) for severe combined immunodeficiency (SCID), X-linked agammaglobulinemia (XLA), and spinal muscular atrophy (SMA) enables early diagnosis and intervention, significantly improving patient outcomes. Advances in real-time polymerase
Chi Chen, Chao Zhang, Ding-Wen Wu, Bing-Yi Wang, Rui Xiao, Xiao-Lei Huang, Xin Yang, Zhi-Gang Gao, Ru-Lai Yang   +8 more
semanticscholar   +1 more source

Charter of the Kansas Advisory Council on Newborn Screening [2008]

, 2008
"Effective Date: May 15, 2008.""The mission of the Kansas Advisory Council on Newborn Screening (KACNS) is to advise the Kansas Department of Health and Environment (KDHE) on the establishment of a comprehensive, quality system for ...
Kansas Advisory Council on Newborn Screening.
core   +1 more source

Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening

Journal of Inherited Metabolic Disease
Newborn screening (NBS) is one of the most effective measures of secondary prevention. While the benefit of NBS on the clinical long‐term outcomes of children with inherited metabolic diseases (IMD) has been demonstrated, the potential burden of families
E. Schnabel-Besson, S. Garbade, F. Gleich, S. Grünert, J. Krämer, E. Thimm, J. Hennermann, P. Freisinger, P. Burgard, G. Gramer, Marina A. Morath, A. T. Tuncel, Svenja Keßler, G. Hoffmann, S. Kolker, U. Mütze   +15 more
semanticscholar   +1 more source

Spinal Muscular Atrophy Diagnosed by Newborn Screening

, 2019
A panel of experts representing academic centers, family foundations and pharmaceutical industry came together to formulate a treatment algorithm for infants diagnosed via newborn screening (NBS) with Spinal muscular atrophy (SMA).
Vamshi K Rao, Matias Lopez-Chacon, Amber N Buehner   +2 more
core   +1 more source

Early spinal muscular atrophy treatment following newborn screening: A 20‐month review of the first Italian regional experience

Annals of Clinical and Translational Neurology
Mandatory newborn screening (NBS) for spinal muscular atrophy (SMA) was implemented for the first time in Italy at the end of 2021, allowing the identification and treatment of patients at an asymptomatic stage.
Delia Gagliardi, Eleonora Canzio, Paola Orsini, P. Conti, Vita Sinisi, Cosimo Maggiore, Maria Carla Santarsia, G. La Gioia, Giovanna Lupis, Isabella Roppa, G. Scianatico, Daniela Mancini, S. Corti, G. Comi, Mattia Gentile, Delio Gagliardi   +15 more
semanticscholar   +1 more source

NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study

BMJ Open
Introduction Newborn bloodspot screening (NBS) is freely and universally available to babies born in Australia, with nearly 300 000 newborns screened each year.
Karin S Kassahn, Nicholas Smith, Christopher P Barnett, Hamish S Scott, Tracy Merlin, Camille Schubert, Jovanka King, Scott Morris, Jennie Louise, Lucy Anastasi, Ayesha Chowdhury, Alex Ashenden, Tomas Rozek, Khoa Lam, Stephanie Skinner, Kirsty Stallard, Arlene Vogan, Sarah Cohen-Woods, Enzo Ranieri, Benjamin Saxon, Drago Bratkovic, Carol Wai-Kwan Siu   +21 more
doaj   +1 more source