Results 1 to 10 of about 1,958,159 (384)

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   +2 more sources

Genetic Screening of Newborns [PDF]

Annual Review of Genomics and Human Genetics, 2000
Screening of newborn infants for genetic disease began over 35 years ago as a public health measure to prevent mental retardation in phenylketonuria (PKU). It was so successful that tests for several other genetic disorders were added. We review the current status of this screening, including discussions of the genetic disorders often covered and the ...
Harvey L. Levy, Simone Albers
openalex   +4 more sources

Development of Strategies to Decrease False Positive Results in Newborn Screening

International Journal of Neonatal Screening, 2020
The expansion of national newborn screening (NBS) programmes has provided significant benefits in the diagnosis and early treatment of several rare, heritable conditions, preventing adverse health outcomes for most affected infants.
Sabrina Malvagia, Giulia Forni, Daniela Ombrone, Giancarlo la Marca   +3 more
doaj   +2 more sources

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation [PDF]

International Journal of Neonatal Screening
Acetoacetyl-CoA thiolase deficiency, also known as Beta-ketothiolase deficiency (BKTD), is an autosomal recessive organic aciduria included in the Italian newborn screening (NBS) panel.
Alessandra Vasco, Clarissa Berardo, Simona Lucchi, Laura Cappelletti, Giulio Tamburello, Salvatore Fazzone, Alessia Mauri, Francesca Fiumani, Diana Postorivo, Luisella Alberti, Michela Perrone Donnorso, Serena Gasperini, Francesca Furlan, Laura Fiori, Stephana Carelli, Laura Assunta Saielli, Cristina Montrasio, Cristina Cereda   +17 more
doaj   +2 more sources

Optimization of the Performance of Newborn Screening for X-Linked Adrenoleukodystrophy by Flow Injection Analysis Tandem Mass Spectrometry [PDF]

International Journal of Neonatal Screening
The aim of this study was to improve screening efficiency by establishing reasonable interpretation criteria for the use of flow injection analysis tandem mass spectrometry (FIA-MS/MS) in newborn screening (NBS) for X-linked adrenoleukodystrophy (X-ALD).
Chengfang Tang, Minyi Tan, Yanna Cai, Sichi Liu, Ting Xie, Xiang Jiang, Li Tao, Yonglan Huang, Fang Tang   +8 more
doaj   +2 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

Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening

JAMA Network Open, 2023
Key Points Question What are the benefits of applying gene panel sequencing as a first-tier newborn screening test at a population scale? Findings In this cohort study including 29 601 newborns, gene panel sequencing of 128 diseases as first-tier ...
Ting Chen, C. Fan, Yonglan Huang, Jizhen Feng, Yin-hong Zhang, Jing-kun Miao, Xiaohua Wang, Yulin Li, Cidan Huang, Weiwei Jin, Chengfang Tang, Lulu Feng, Yifan Yin, Bo Zhu, Meng Sun, Xiulian Liu, Jiale Xiang, M. Tan, Liyun Jia, Lei Chen, Hui Huang, Huanhuan Peng, Xin Sun, Xuefan Gu, Zhiyu Peng, Baosheng Zhu, Hui Zou, L. Han   +27 more
semanticscholar   +1 more source

Newborn screening for homocystinuria [PDF]

Cochrane Database of Systematic Reviews, 2010
Homocystinuria is a rare inherited disorder due to a deficiency in cystathionine beta synthase. Individuals with this condition appear normal at birth but develop serious complications in childhood. Diagnosis and treatment started sufficiently early in life can effectively prevent or reduce the severity of these complications.
Tracey Remmington, John H. Walter, Nikki Jahnke   +2 more
openaire   +5 more sources

Newborn Screening for Fabry Disease: Current Status of Knowledge

International Journal of Neonatal Screening, 2023
Fabry disease is an X-linked progressive lysosomal disorder, due to α-galactosidase A deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic disease.
V. Gragnaniello, A. Burlina, A. Commone, D. Gueraldi, Andrea Puma, E. Porcù, Maria Stornaiuolo, C. Cazzorla, A. Burlina   +8 more
semanticscholar   +1 more source

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

International Journal of Neonatal Screening, 2022
Newborn screening for treatable disorders is one of the great public health success stories of the twentieth century worldwide. This commentary examines the potential use of a new technology, next generation sequencing, in newborn screening through the ...
D. Bick, Arzoo Ahmed, D. Deen, A. Ferlini, Nicolas Garnier, D. Kasperaviciute, Mathilde Leblond, Amanda Pichini, A. Rendon, Aditi Satija, Alice Tuff-Lacey, R. Scott   +11 more
semanticscholar   +1 more source