Results 1 to 10 of about 5,252 (119)

Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)

Frontiers in Genetics, 2022
Each year, through population-based newborn screening (NBS), 1 in 294 newborns is identified with a condition leading to early treatment and, in some cases, life-saving interventions.
Can Ficicioglu, Kee Chan, Michele Caggana   +2 more
exaly   +3 more sources

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders

International Journal of Neonatal Screening, 2023
Rapid advances in the screening, diagnosis, and treatment of genetic disorders have increased the number of conditions that can be detected through universal newborn screening (NBS).
Kee Chan, Zhanzhi Hu, Lynn W. Bush, Heidi Cope, Ingrid A. Holm, Stephen F. Kingsmore, Kevin Wilhelm, Curt Scharfe, Amy Brower   +8 more
doaj   +1 more source

Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot

International Journal of Neonatal Screening, 2022
Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia approach to advance DMD newborn screening in the United States.
Michael J. Hartnett, Michele A. Lloyd-Puryear, Norma P. Tavakoli, Julia Wynn, Carrie L. Koval-Burt, Dorota Gruber, Tracy Trotter, Michele Caggana, Wendy K. Chung, Niki Armstrong, Amy M. Brower   +10 more
doaj   +1 more source

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

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   +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

Insights into National Laboratory Newborn Screening and Future Prospects

Medicina, 2022
Newborn screening (NBS) is a group of tests that check all newborns for certain rare conditions, covering several genetic or metabolic disorders. The laboratory NBS is performed through blood testing.
Ahmed H. Mujamammi
doaj   +1 more source