Results 1 to 10 of about 1,360,274 (268)

Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)

Frontiers in Genetics, 2022
Each year, through population-based newborn screening (NBS), 1 in 294 newborns is identified with a condition leading to early treatment and, in some cases, life-saving interventions.
Amy Brower, Kee Chan, Marc Williams, Susan Berry, Robert Currier, Piero Rinaldo, Michele Caggana, Amy Gaviglio, William Wilcox, Robert Steiner, Ingrid A. Holm, Jennifer Taylor, Joseph J. Orsini, Luca Brunelli, Joanne Adelberg, Olaf Bodamer, Sarah Viall, Curt Scharfe, Melissa Wasserstein, Jin Y. Chen, Maria Escolar, Aaron Goldenberg, Kathryn Swoboda, Can Ficicioglu, Dieter Matern, Rachel Lee, Michael Watson   +26 more
doaj   +6 more sources

Perspective on newborn screening (NBS): Evidence sharing on conditions to be included in NBS in Pakistan.

Journal of the Pakistan Medical Association, 2022
Newborn screening aims at detecting treatable disorders early so that the treatment can be initiated to prevent mortality and morbidity. Such programmes are well established in most developed countries, and all newborns are screened for selected ...
Hafsa Majid, L. Jafri, Sibtain Ahmed, K. Humayun, S. Kirmani, N. Ali, Bushra Moiz, A. Khan, B. Afroze   +8 more
semanticscholar   +3 more sources

Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures

International Journal of Neonatal Screening, 2023
Newborn screening using dried blood spots (NBS) is widely acknowledged as a highly successful procedure in secondary prevention. For a number of congenital disorders, severe disability or death are impressively prevented by early detection and early ...
Birgit Odenwald, I. Brockow, Marianne Hanauer, A. Lüders, U. Nennstiel   +4 more
semanticscholar   +4 more sources

Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS). [PDF]

JIMD Reports, 2013
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.
A. Jay, M. Seeterlin, Eleanor Stanley, R. Grier   +3 more
semanticscholar   +3 more sources

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders

International Journal of Neonatal Screening, 2023
Rapid advances in the screening, diagnosis, and treatment of genetic disorders have increased the number of conditions that can be detected through universal newborn screening (NBS).
Kee Chan, Zhanzhi Hu, Lynn W. Bush, Heidi Cope, Ingrid A. Holm, Stephen F. Kingsmore, Kevin Wilhelm, Curt Scharfe, Amy Brower   +8 more
doaj   +2 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
The 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
J. Chudleigh, S. Buckingham, J. Dignan, S. O’Driscoll, Kemi Johnson, D. Rees, H. Wyatt, A. Metcalfe   +7 more
semanticscholar   +7 more sources

Analytical Study Showing a False-Negative Limitation of Deletion-Based Newborn Screening for Spinal Muscular Atrophy Using a Compound Heterozygous SMN1 Control [PDF]

International Journal of Neonatal Screening
Newborn screening (NBS) facilitates the presymptomatic diagnosis and early treatment of spinal muscular atrophy (SMA). An analytical study was conducted to evaluate the performance and limitations of a real-time polymerase chain reaction-based SMA-NBS ...
Yuichi Abe, Sato Suzuki-Muromoto, Motomichi Kosuga, Tetsuya Isayama, Go Tajima, Yasuhito Aoki, Nobuyuki Ishige, Yushi Ito   +7 more
doaj   +2 more sources

Different algorithms for CF newborn screening (NBS): a retrospective evaluation

Journal of Cystic Fibrosis, 2010
C. Corbetta, G. Zani, T. Mariani, M. Sangiovanni, M. Seia, R. Padoan   +5 more
semanticscholar   +2 more sources

Sustainability of newborn screening for sickle cell disease in resource-poor countries: A systematic review.

PLoS ONE
Sickle cell disease (SCD) is a worldwide genetic blood disorder. Roughly 400,000 babies are born with SCD each year worldwide. More than 75% of these births occur in sub-Saharan Africa.
Chinwe O Okeke, Chinedu Okeke, Samuel Asala, Akinyemi O D Ofakunrin, Silas Ufelle, Obiageli E Nnodu   +5 more
doaj   +2 more sources

Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot

International Journal of Neonatal Screening, 2022
Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia approach to advance DMD newborn screening in the United States.
Michael J. Hartnett, Michele A. Lloyd-Puryear, Norma P. Tavakoli, Julia Wynn, Carrie L. Koval-Burt, Dorota Gruber, Tracy Trotter, Michele Caggana, Wendy K. Chung, Niki Armstrong, Amy M. Brower   +10 more
doaj   +1 more source