Results 1 to 10 of about 110,781 (180)

A 25-Year Retrospective on Bavaria’s Newborn Screening Programme: Achievements, Challenges and Long-Term Follow-Up [PDF]

International Journal of Neonatal Screening
The German federal state of Bavaria implemented newborn screening (NBS) using dried blood spots (DBS) as an integrated public health programme with centralised coordination.
Uta Nennstiel, Inken Brockow, Birgit Odenwald, Carola Marzi, Marianne Hanauer, Esther Maier, Wulf Röschinger, Ralph Fingerhut, Bernhard Liebl   +8 more
doaj   +2 more sources

Analytical Validation of a Genomic Newborn Screening Workflow. [PDF]

Int J Neonatal Screen
Hovhannesyan K, Helou L, Charloteaux B, Jacquemin V, Piazzon F, Mni M, Flohimont C, Fasquelle C, Mashhadizadeh D, Dangouloff T, Bours V, Servais L, Palmeira L, Boemer F.   +13 more
europepmc   +3 more sources

A pilot study of newborn screening for Duchenne muscular dystrophy in Guangzhou

Heliyon, 2022
Background: To estimate the overall situation of Duchenne muscular dystrophy (DMD) screening in newborns in Guangzhou, China. Method: A total of 62553 newborns including 44268 males and 18285 females were screened for DMD by measuring muscle specific ...
Xuefang Jia, Xiang Jiang, Yonglan Huang
doaj   +2 more sources

Newborn Screening

Nursing for Women's Health, 2011
Early detection of many disorders, mainly inherited, is feasible with population-wide analysis of newborn dried blood spot samples. Phenylketonuria was the prototype disorder for newborn screening (NBS) and early dietary treatment has resulted in vastly improved outcomes for this disorder. Testing for primary hypothyroidism and cystic fibrosis (CF) was
Rebecca Anderson, Erin Rothwell, Jeffrey R. Botkin   +2 more
  +10 more sources

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

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, Alessia Arena, Riccardo Iacobacci, Luisa La Spina, Concetta Meli, Federica Raudino, Martino Ruggieri   +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

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, Lisa Morgan, Detlef Knoll, Keith Shore, Mark de Hora, Dianne Webster   +5 more
doaj   +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, Bradford L. Therrell, Maria Melanie Liberty B. Alcausin, Reynaldo C. de Castro, Maria Beatriz P. Gepte, Ma. Elouisa L. Reyes, Charity M. Jomento, Riza Concordia N. Suarez, Ebner Bon G. Maceda, Conchita G. Abarquez, J. Edgar Winston C. Posecion, Alma P. Andal, Anna Lea G. Elizaga, Bernadette C. Halili-Mendoza, Maria Paz Virginia K. Otayza, Carolyn C. Hoppe   +15 more
doaj   +1 more source

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

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, Samantha Barton, Jolanta Kordowska, Roger B. Eaton, Anne M. Counihan, Jaime E. Hale, Anne Marie Comeau   +6 more
doaj   +1 more source

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

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, Bradford L. Therrell, Maria Melanie Liberty B. Alcausin, Mary Anne D. Chiong, Mary Ann R. Abacan, Ma. Elouisa L. Reyes, Charity M. Jomento, Maria Truda T. Dizon-Escoreal, Margarita Aziza E. Canlas, Michelle E. Abadingo, J. Edgar Winston C. Posecion, Conchita G. Abarquez, Alma P. Andal, Anna Lea G. Elizaga, Bernadette C. Halili-Mendoza, Maria Paz Virginia K. Otayza, David S. Millington   +16 more
doaj   +1 more source

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

International 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, Mark de Hora, Shannon Brothers, Pippa Grainger, Detlef Knoll, Dianne Webster   +5 more
doaj   +1 more source