Results 141 to 150 of about 1,360,274 (268)

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism

International Journal of Neonatal Screening
In this study, we evaluated the implementation of a second-tier genetic screening test using an amplicon-based next-generation sequencing (NGS) panel in our laboratory during the period of 1 September 2021 to 31 August 2022 for the newborn screening (NBS)
T. Chan, C. Mak, M. Yeung, Eric Law, J. Cheung, Tsz-Sum Wong, Vincent Wing-Sang Cheng, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Cheuk-Wing Fung, K. Belaramani, A. Kwok, Kwok-Yeung Tsang   +12 more
semanticscholar   +1 more source

Review of processes in use to inform the expansion of newborn bloodspot screening programmes

, 2021
The National Screening Advisory Committee (NSAC) was established in 2019 as an independent advisory committee to play a strategic role in the development and consideration of population-based screening programmes in Ireland.
Health Information and Quality Authority (HIQA)
core  

Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management

JIMD Reports
Innovative treatments have allowed the introduction of conditions such as lysosomal storage disorders (LSDs) to newborn screening (NBS). This study explored the challenges healthcare providers faced with the addition of LSDs to NBS and identified ...
A. Terrell, K. Sapp, B. Graham, M. McPheron, L. Wetherill   +4 more
doaj   +1 more source

Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States

International Journal of Neonatal Screening
In the United States (U.S.), newborn screening (NBS) for spinal muscular atrophy (SMA) is implemented by individual states. There is likely variation in the practice patterns of state NBS programs and among the providers caring for newborns with SMA ...
C. Zaidman, Cameron D. Crockett, E. Wedge, G. Tabatabai, N. Goedeker   +4 more
semanticscholar   +1 more source

Effect of Excluding Non-Patient Benefits As An Element On Acmg Newborn Screening (Nbs) Recommendations [PDF]

Value in Health, 2014
Mahida, S., Algarni, M., Rittenhouse, B.
openaire   +3 more sources

Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework

European Journal of Human Genetics
Newborn screening (NBS) programmes are highly successful, trusted, public health interventions. Genomic sequencing offers the opportunity to increase the benefits of NBS by screening infants for a greater number and variety of childhood-onset conditions.
E. Tutty, Alison D. Archibald, L. Downie, C. Gaff, S. Lunke, D. Vears, Zornitza Stark, S. Best   +7 more
semanticscholar   +1 more source

Cystic fibrosis fact sheet

, 2006
This archived document is maintained by the Oregon State Library as part of the Oregon Documents Depository Program. It is for informational purposes and may not be suitable for legal purposes.Title from PDF caption (viewed on Jan.

core  

New tools and approaches to newborn screening: ready to open Pandora's box?

, 2017
The landscape of newborn screening (NBS) is changing as new tools are developed. We must acknowledge that NBS is a very important and extraordinarily positive initiative especially for rare and serious inherited disorders; however, lessons learned from ...
Can Ficicioglu
core   +1 more source

Next-generation sequencing based newborn screening and comparative analysis with MS/MS

BMC Pediatrics
Background Newborn screening (NBS), such as tandem mass spectrometry (MS/MS), may yield false positive/negative results. Next-generation sequencing (NGS) has the potential to provide increased data output, efficiencies, and applications. This study aimed
Guosong Shen, Wenwen Li, Yaqin Zhang, Lyuyan Chen   +3 more
semanticscholar   +1 more source

Newborn Screening for Cystic Fibrosis: Over the Hump, Still Need to Fine-Tune It

, 2020
Today, newborn screening (NBS) is considered an essential component in the standards of care for cystic fibrosis (CF) [...
Carlo Castellani
core   +1 more source