Results 1 to 10 of about 222,272 (314)

Butyrylcarnitine Elevation in Newborn Screening: Reducing False Positives and Distinguishing between Two Rare Diseases through the Evaluation of New Ratios

open access: yesBiomedicines, 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

Introduction of a Protocol for Structured Follow-Up and Texting of Inadequate and Borderline-Positive Newborn Metabolic Screening Results

open access: yesInternational 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

Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines

open access: yesInternational 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

Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy Number

open access: yesInternational 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

Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry

open access: yesInternational 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   +1 more source

Introducing Newborn Screening for Severe Combined Immunodeficiency—The New Zealand Experience

open access: yesInternational Journal of Neonatal Screening, 2022
Screening for severe combined immunodeficiency (SCID) was added to the New Zealand national newborn screening programme in December 2017. Documentation pertaining to the application to add SCID to the panel and screening results over the first three ...
Natasha Heather   +5 more
doaj   +1 more source

Newborn Screening and the Obstetrician [PDF]

open access: yesObstetrics & Gynecology, 2012
Newborn screening is the largest genetic screening program in the United States with approximately four million newborns screened yearly. It has been available and in continuous development for more than 50 years. Each state manages, funds, and maintains its own individual program, which encompasses newborn screening as well as the diagnosis and ...
Nancy C, Rose, Siobhan M, Dolan
openaire   +2 more sources

Newborn screening in Germany

open access: yesMedizinische Genetik, 2022
Peer ...
Tönnies, Holger, Nennstiel, Uta
openaire   +4 more sources

Early Check: translational science at the intersection of public health and newborn screening

open access: yesBMC Pediatrics, 2019
Background Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based public health program in the United States, NBS offers the promise of making the successes of ...
Donald B. Bailey   +23 more
doaj   +1 more source

Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures

open access: yesInternational Journal of Neonatal Screening, 2023
Newborn screening using dried blood spots (NBS) is widely acknowledged as a highly successful procedure in secondary prevention. For a number of congenital disorders, severe disability or death are impressively prevented by early detection and early ...
Birgit Odenwald   +4 more
doaj   +1 more source

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