Results 1 to 10 of about 3,396,540 (313)
International Journal of Neonatal Screening, 2022 Newborn bloodspot screening (NBS) began as a research project in the Philippines in 1996 and was mandated by law in 2004. The program initially included screening for five conditions, with a sixth added in 2012.
Carmencita D. Padilla +16 more
doaj +2 more sources
Biomedicines, 2023 One of the main challenges of newborn screening programs, which screen for inherited metabolic disorders, is cutting down on false positives (FPs) in order to avoid family stresses, additional analyses, and unnecessary costs.
MariaAnna Messina +6 more
doaj +1 more source
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening
JAMA Network Open, 2023 Key Points Question What are the benefits of applying gene panel sequencing as a first-tier newborn screening test at a population scale? Findings In this cohort study including 29 601 newborns, gene panel sequencing of 128 diseases as first-tier ...
Ting Chen +27 more
semanticscholar +1 more source
International Journal of Neonatal Screening, 2022 A national protocol for structured follow-up and texting of repeat newborn bloodspot screening (NBS) sample requests was introduced. Repeat samples are needed where the initial sample is inadequate or the result borderline-positive.
Natasha Heather +5 more
doaj +1 more source
Newborn Screening for Fabry Disease: Current Status of Knowledge
International Journal of Neonatal Screening, 2023 Fabry disease is an X-linked progressive lysosomal disorder, due to α-galactosidase A deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic disease.
V. Gragnaniello +8 more
semanticscholar +1 more source
Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines
International Journal of Neonatal Screening, 2021 The Philippine newborn bloodspot screening (NBS) program began in 1996 with 24 hospitals and was formalized by legislation in 2004. The NBS panel was recently expanded to include a number of additional hereditary congenital conditions.
Carmencita D. Padilla +15 more
doaj +1 more source
International Journal of Neonatal Screening, 2023 Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in the expansion of the French newborn screening (NBS) program at the beginning of 2023.
Charles R. Lefèvre +12 more
semanticscholar +1 more source
International Journal of Neonatal Screening, 2021 Promising treatments for spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, prompted calls for inclusion in newborn screening (NBS).
Binod Kumar +6 more
doaj +1 more source
CMAJ Open, 2021 Background: Although pathogenic 22q11.2 deletions are an important cause of developmental delays and lifelong disease burden, their variable and complex clinical expression contributes to under-recognition, delayed molecular diagnosis and uncertainty ...
Christina Blagojevic +7 more
semanticscholar +1 more source
Newborn Screening by Genomic Sequencing: Opportunities and Challenges
International Journal of Neonatal Screening, 2022 Newborn screening for treatable disorders is one of the great public health success stories of the twentieth century worldwide. This commentary examines the potential use of a new technology, next generation sequencing, in newborn screening through the ...
D. Bick +11 more
semanticscholar +1 more source