Results 41 to 50 of about 1,922,511 (410)

Critical congenital heart disease screening by pulse oximetry in a neonatal intensive care unit. [PDF]

, 2014
ObjectiveCritical congenital heart disease (CCHD) screening is effective in asymptomatic late preterm and term newborn infants with a low false-positive rate (0.035%).
Carrion, V, Lakshminrusimha, S, Manja, V, Mathew, B   +3 more
core   +2 more sources

Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS

International Journal of Neonatal Screening, 2023
In the Norwegian newborn screening (NBS) program, genetic testing has been implemented as a second or third tier method for the majority of NBS disorders, significantly increasing positive predictive value (PPV).
Silje Hogner, Emma Lundman, Janne Strand, Mari Eknes Ytre-Arne, Trine Tangeraas, Asbjørg Stray-Pedersen   +5 more
doaj   +1 more source

Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

Journal of Neuromuscular Diseases, 2020
In early 2018, Cure SMA convened a group of expert clinicians and scientists to develop a treatment algorithm using a reiterative surveying modified Delphi technique for infants diagnosed with spinal muscular atrophy (SMA) via newborn screening (NBS ...
J. Glascock, J. Sampson, A. Connolly, B. Darras, J. Day, R. Finkel, R. Howell, Katherine W. Klinger, N. Kuntz, T. Prior, P. Shieh, T. Crawford, D. Kerr, J. Jarecki   +13 more
semanticscholar   +1 more source

SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba

Journal of Inborn Errors of Metabolism and Screening, 2016
The ultramicroanalytic system (SUMA), created in the 1980s, is a complete system of reagents and instrumentation to perform ultramicroassays combining the sensitivity of the micro-enzyme-linked immunosorbent assay (ELISA) tests with the use of ...
Ernesto Carlos González Reyes PhD, Elisa M. Castells MSc, Amarilys Frómeta MSc, Ana Luisa Arteaga MD, Lesley Del Río MSc, Yileidis Tejeda MSc, Pedro L. Pérez LT, Mary Triny Segura BSc, Pedro Almenares MSc, Yenitse Perea MSc, Niurka M. Carlos MSc, René Robaina MD, PhD, José L. Fernández-Yero MD, PhD   +12 more
doaj   +1 more source

Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease

International Journal of Neonatal Screening, 2022
In this study, we modified a fully automatic immunoassay on ceruloplasmin concentration on dried blood spots (DBS) to increase its analytical sensitivity in order to accurately differentiate newborns from true Wilson disease (WD) patients.
Chloe Miu Mak, Ching Tung Choi, Tsz Ki Wong, Hanson Heearn Chin, Hillman Kai Yin Lai, Koon Yu Yuet   +5 more
doaj   +1 more source

Newborn Screening for CF across the Globe—Where Is It Worthwhile?

International Journal of Neonatal Screening, 2020
Newborn screening (NBS) for cystic fibrosis (CF) has been performed in many countries for as long as four decades and has transformed the routine method for diagnosing this genetic disease and improved the quality and quantity of life for people with ...
V. Scotet, H. Gutierrez, P. Farrell
semanticscholar   +1 more source

Newborn Screening for Congenital Hypothyroidism in Japan

International Journal of Neonatal Screening, 2021
Congenital hypothyroidism (CH) is the most common preventable cause of intellectual impairment or failure to thrive by early identification and treatment.
K. Minamitani
semanticscholar   +1 more source

Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening [PDF]

, 2018
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy.
Connolly, Anne, Crawford, Thomas O, Darras, Basil, Day, John, Finkel, Richard, Glascock, Jacqueline, Haidet-Phillips, Amanda, Howell, R. Rodney, Jarecki, Jill, Ker, Douglas, Klinger, Katherine, Kuntz, Nancy, Prior, Thomas, Sampson, Jacinda, Shieh, Perry B   +14 more
core   +2 more sources

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.

American Journal of Human Genetics, 2020
Newborn screening (NBS) was established as a public health program in the 1960s and is crucial for facilitating detection of certain medical conditions in which early intervention can prevent serious, life-threatening health problems.
Tamara S. Roman, Stephanie B. Crowley, M. Roche, A. K. Foreman, Julianne M. O’Daniel, Bryce A. Seifert, Kristy Lee, A. Brandt, C. Gustafson, Daniela M. DeCristo, Natasha T. Strande, L. Ramkissoon, L. Milko, Phillips Owen, Sayanty Roy, M. Xiong, Ryan S. Paquin, Rita M. Butterfield, Megan A. Lewis, Katherine J Souris, D. Bailey, C. Rini, J. Booker, B. Powell, K. Weck, C. Powell, J. Berg   +26 more
semanticscholar   +1 more source

Expert Evaluation of Strategies to Modernize Newborn Screening in the United States

JAMA Network Open, 2021
Key Points Question What solutions do subject matter experts recommend to prepare newborn screening for a rapid increase in the number of transformative therapies that must be provided early in life?
Don B Bailey, K. Porter, S. Andrews, M. Raspa, Angela Gwaltney, H. Peay   +5 more
semanticscholar   +1 more source