Results 11 to 20 of about 1,360,274 (268)

Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021

International Journal of Neonatal Screening, 2021
Newborn screening (NBS) programs identify newborns at increased risk for genetic disorders, linking these newborns to timely intervention and potentially life-saving treatment.
Kshea Hale, Jelili Ojodu, Sikha Singh
doaj   +2 more sources

Newborn Screening: Current Status in Alberta, Canada

International Journal of Neonatal Screening, 2019
Newborn screening (NBS) in Alberta is delivered by a number of government and health service entities who work together to provide newborn screening to infants born in Alberta, the Northwest Territories, and the Kitikmeot region of the Nunavut territory.
Andy De Souza, Vanessa Wolan, Angie Battochio, Susan Christian, Stacey Hume, Grace Johner, Margaret Lilley, Ross Ridsdale, Kareena Schnabl, Chi Tran, Jolene Yuen-Jung, Iveta Sosova   +11 more
doaj   +2 more sources

Implications of Genomic Newborn Screening for Infant Mortality

International Journal of Neonatal Screening, 2023
Technological advances and decreasing costs of genomic sequencing have paved the way for the increased incorporation of genomics into newborn screening (NBS).
Monica H. Wojcik, Nina B. Gold
doaj   +2 more sources

Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data Acquisition [PDF]

, 2023
Repeated European surveys of newborn bloodspot screening (NBS) have shown varied strategies for collecting missed cases, and information on data collection differs among countries/regions, hampering data comparison.
European CF Society Neonatal Screening Working Group (ECFS NSWG), Longziekten patientenzorg, Child Health   +2 more
core   +5 more sources

Combined genetic screening and traditional newborn screening to improve the screening efficiency of congenital hypothyroidism

Frontiers in Pediatrics, 2023
BackgroundCongenital hypothyroidism (CH) is an neonatal endocrine disorder. Traditional newborn screening is the mainstream method of CH screening, so as to ensure the early detection and treatment of CH.
Liang Ye, Liang Ye, Yifan Yin, Yifan Yin, Min Chen, Min Chen, Nian Gong, Nian Gong, Yong Peng, Yong Peng, Hao Liu, Hao Liu, Jingkun Miao, Jingkun Miao   +13 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

Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy [PDF]

, 2021
Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of ...
Estrella, Elicia, Abbott, Mary-Alice, Hay, Beverly N., Swoboda, Kathryn J., Gerstel-Thompson, Jacalyn L., Counihan, Anne M., Chen, Jin Yun Helen, Sahai, Inderneel, Hale, Jaime E, Comeau, Anne Marie, Darras, Basil T., Kumar, Binod, Eaton, Roger B.   +12 more
core   +1 more source

Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population

International Journal of Neonatal Screening, 2023
Newborn screening (NBS) for Severe Combined Immunodeficiency (SCID) by measurement of T-cell receptor excision circles (TRECs) successfully identifies newborns with SCID and severe T-cell lymphopenia, as intended.
Amy Gaviglio, Michael Lasarev, Ruthanne Sheller, Sikha Singh, Mei Baker   +4 more
doaj   +1 more source

An Insight into Indonesia’s Challenges in Implementing Newborn Screening Programs and Their Future Implications

Children, 2023
Due to high entry barriers, countries might find it daunting to implement the NBS program, especially those just trying to start it. This review aims to discuss Indonesia’s barriers that hinder newborn screening (NBS) implementation while discussing the ...
Gilbert Sterling Octavius, Vamela Adman Daleni, Yulita Delfia Sari Sagala   +2 more
doaj   +1 more source

Expanded Newborn Screening and Genomic Sequencing in Latin America and the Resulting Social Justice and Ethical Considerations

International Journal of Neonatal Screening, 2021
Newborn screening (NBS) has widely been utilized in developed countries as a cost-effective public health strategy that reduces morbidity and mortality. Developing countries, however, are new to the NBS scene and have their own unique challenges, both in
Juan F. Cabello, Fernando Novoa, Hanalise V. Huff, Marta Colombo   +3 more
doaj   +1 more source