Results 1 to 10 of about 225,004 (293)

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

Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial. [PDF]

BMJ Open
Reimers R, Bailey M, Brown C, Chan K, Defay T, Finkel T, Kahn S, Protopsaltis L, Stoddard L, Talati AJ, Wigby K, Akil ASA, Wright M, Kingsmore SF, BeginNGS Consortium.   +14 more
europepmc   +3 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

Critical congenital heart disease screening by pulse oximetry in a neonatal intensive care unit. [PDF]

, 2014
ObjectiveCritical congenital heart disease (CCHD) screening is effective in asymptomatic late preterm and term newborn infants with a low false-positive rate (0.035%).
Carrion, V, Lakshminrusimha, S, Manja, V, Mathew, B   +3 more
core   +5 more sources

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

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

International 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, Inken Brockow, Marianne Hanauer, Anja Lüders, Uta Nennstiel   +4 more
doaj   +1 more source