Results 41 to 50 of about 1,360,274 (268)

Family Attitudes regarding Newborn Screening for Krabbe Disease: Results from a Survey of Leukodystrophy Registries

International Journal of Neonatal Screening, 2020
Newborn screening (NBS) for Krabbe disease (KD) is currently underway in eight states in the USA, and there is continued discussion of whether to implement KD NBS in additional states.
Karlita Blackwell, Michael H. Gelb, Anna Grantham, Natasha Spencer, Christin Webb, Tara West   +5 more
doaj   +1 more source

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

Fatty Acid Oxidation Disorders Detected by Newborn Screening: Clinical, Biochemical and Genetic Spectrum in a Single‐Center Cohort [PDF]

JIMD Rep
ABSTRACT Newborn screening (NBS) has significantly improved early detection and survival in fatty acid oxidation disorders (FAODs). However, the expanding phenotypic spectrum challenges prognostic stratification, and long‐term morbidity remains incompletely characterized.
Martín‐Hernández E, Barrio‐Carreras D, Martín‐Cazaña M, García‐Cárdaba L, Martín‐Fernández C, Pérez‐Mohand P, Chamorro T, Crespo B, Ruiz‐Sala P, Alonso P, Quijada‐Fraile P.   +10 more
europepmc   +2 more sources

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

Newborn Screening in Japan

, 2022
“Newborn Screening in Japan—2021” is a topical collection of the International Journal of Neonatal Screening. Japan's newborn mass screening (NBS) was started in 1977 at the national level as a national project.

core   +1 more source

Indifferent or Uninformed? Reflections of Health Professionals on Parental Education and Consent for Expanded Newborn Screening in Israel, 2008–2016

International Journal of Neonatal Screening, 2017
Background: This study explored the views of health professionals regarding parental education and informed consent for newborn screening (NBS) following the expansion of the NBS program in Israel.
Shlomit Zuckerman
doaj   +1 more source

The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices

Frontiers in Immunology, 2020
Severe combined immunodeficiency (SCID) is T cell development disorders in the immune system and can be detected at birth. As of December 2018, all 53 newborn screening (NBS) programs within the United States and associated territories offer universal ...
Ruthanne Sheller, Jelili Ojodu, Emma Griffin, Sari Edelman, Careema Yusuf, Trey Pigg, Alissa Huston, Brian Fitzek, John G. Boyle, Sikha Singh   +9 more
doaj   +1 more source

Sweat testing infants detected by cystic fibrosis newborn screening

, 2012
OBJECTIVE: Describe and define limitations of early pilocarpine iontophoresis (sweat testing) for cystic fibrosis (CF) newborn screening (NBS). STUDY DESIGN: Population-based results from follow-up of CF NBS-positive newborns.
Dorkin, Henry L., Gerstle, Robert, O'Sullivan, Brian P., Parad, Richard B., Dovey, Mark, Comeau, Anne Marie, Martin, Thomas   +6 more
core   +1 more source

Metabolic serendipities of expanded newborn screening [PDF]

, 2020
Incidental findings on newborn screening (NBS) are results that are not the target of screening within a given NBS program, but rather are found as a result of the screening and resulting diagnostic workup for that target.
Pérez, Belén, González-Gallego, Inmaculada, Montserrat Gonzalo-Marín, Belén Pérez, Domingo González-Lamuño, Blasco Alonso, Javier, Gonzalo Marín, Montserrat, Pedro Ruiz-Sala, Serrano Nieto, Juliana, Pérez González, María Belén, González-Lamuño, Domingo, Ruiz Sala, Pedro, Juliana Serrano-Nieto, Serrano-Nieto, Juliana, González Gallego, Inmaculada, Gonzalo-Marín, Montserrat, Ruiz-Sala, Pedro, Raquel Yahyaoui, González-Lamuño Leguina, Domingo, Carmen Benito, Yahyaoui, Raquel, Javier Blasco-Alonso, Inmaculada González-Gallego, Blasco-Alonso, Javier, Benito, Carmen   +24 more
core   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source