Results 21 to 30 of about 1,245,890 (249)

Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance [PDF]

, 2018
Newborn screening (NBS) identifies infants with rare conditions to prevent death or the onset of irreversible morbidities. Conditions on the Health and Human Services Secretary’s Recommended Uniform Screening Panel have been adopted by most state ...
Kathryn Hassell, Susan R. Rose, Cynthia Hinton, Marci K. Sontag, Kupper A. Wintergerst, Ojodu, Jelili, Careema Yusuf, Rose, Susan R., Sikha Singh, Cynthia F. Hinton, Deboshree Sarkar, Smith-Whitley, Kim, Yusuf, Careema, Copeland, Sara, Parad, Richard, Lorenzo D. Botto, Marci K. Sontag, Cynthia F. Hinton, Sontag, Marci K., Singh, Sikha, Lorenzo D. Botto, Sara Copeland, Susan Rose, Hinton, Cynthia F., Anne M. Comeau, Botto, Lorenzo D., Comeau, Anne M., Kim Smith-Whitley, Jelili Ojodu, Marci Sontag, Anne M. Comeau, Richard Parad, Lorenzo Botto, Sarkar, Deboshree, Hassell, Kathryn, Kupper Wintergerst, Kupper A. Wintergerst, Susan R. Rose, Comeau, Anne Marie, Wintergerst, Kupper A., Anne Comeau   +40 more
core   +1 more source

Newborn Screening: Equity for Aboriginal and Torres Strait Islander Families in the Context of Emerging Genomics. [PDF]

Med J Aust
ABSTRACT Australia's newborn bloodspot screening (NBS) program is offered to every newborn. It screens for 34 rare conditions with the potential for hundreds more to be added using genomics. Despite NBS being available in Australia since the 1960s, there is a lack of evidence regarding the participation and experiences of Aboriginal and Torres Strait ...
Garvey G, Norris S, Scarfe J, Lyons L.
europepmc   +2 more sources

Growth and Neurodevelopmental Outcomes of Children With Congenital Hypothyroidism Identified Through Dried Blood Spot Newborn Screening at a Tertiary Care Hospital in Pakistan. [PDF]

Endocrinol Diabetes Metab
Hospital‐based dried blood spot newborn screening enabled early diagnosis and timely levothyroxine treatment of congenital hypothyroidism, resulting in preserved growth and normal neurodevelopment in most children. These findings support expansion of newborn screening programs in Pakistan.
Rehman B, Arif M, Akbar A, Mazhar N, Hoodbhoy Z, Memon F, Sagri MN, Zahid S, Majid H, Faqiruddin F, Kirmani S, Humayun KN.   +11 more
europepmc   +2 more sources

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

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

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

Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report [PDF]

, 2009
Newborn screening for cystic fibrosis offers the opportunity for early intervention and improved outcomes. This summary, resulting from a workshop sponsored by the Cystic Fibrosis Foundation to facilitate implementation of widespread high quality cystic ...
Massie, John H., Farrell, Philip M., Wilfond, Benjamin S., Sontag, Marci K., Hoffman, Gary, Rosenfeld, Margaret, O'Sullivan, Brian P., Parad, Richard B., Campbell, Preston W., Comeau, Anne Marie, Accurso, Frank J., White, Terry B.   +11 more
core   +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

Pilot programs in newborn screening

, 2012
The term "pilot study" has been used over the years to describe the evaluation of the many elements involved in deciding whether a proposed condition should be added to a newborn screening (NBS) panel, and until recently, was unilaterally used to ...
Sherwin, John, Pass, Kenneth, Lorey, Fred, Comeau, Anne Marie, Green, Nancy S.   +4 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