Results 21 to 30 of about 217,992 (277)

Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand

International Journal of Neonatal Screening, 2020
The positive predictive value of newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was <2% in New Zealand. This is despite a bloodspot second-tier immunoassay method for 17-hydroxyprogesterone measurement with an ...
Mark R de Hora, Natasha L Heather, Tejal Patel, Lauren G Bresnahan, Dianne Webster, Paul L Hofman   +5 more
doaj   +1 more source

Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS

International Journal of Neonatal Screening, 2023
In the Norwegian newborn screening (NBS) program, genetic testing has been implemented as a second or third tier method for the majority of NBS disorders, significantly increasing positive predictive value (PPV).
Silje Hogner, Emma Lundman, Janne Strand, Mari Eknes Ytre-Arne, Trine Tangeraas, Asbjørg Stray-Pedersen   +5 more
doaj   +1 more source

The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: A cohort study [PDF]

, 2016
Background - There is no consensus in the literature regarding the impact of false positive newborn screening results on early health care utilization patterns. We evaluated the impact of false positive newborn screening results for medium-chain acyl-CoA
Aizeddin Mhanni, Anne-Marie Laberge, Annette Feigenbaum, Astrid Guttmann, Beth K. Potter, Brenda J. Wilson, Cheryl Rockman-Greenberg, Chitra Prasad, Christine Davies, Deshayne B. Fell, Doug Coyle, Fiona A. Miller, John J. Mitchell, Jonathan B. Kronick, Kumanan Wilson, Linda Dodds, Maria D. Karaceper, Marni Brownell, Meranda Nakhla, null null, Pranesh Chakraborty, Rebecca Sparkes, Scott D. Grosse, Steven Hawken   +23 more
core   +2 more sources

Newborn screening for spinal muscular atrophy : the views of affected families and adults [PDF]

, 2017
Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant death worldwide. However, due to a lack of treatments, SMA has historically fallen short of Wilson-Jungner criteria.
Boardman, Felicity K., Griffiths, Frances, Young, Philip J.   +2 more
core   +1 more source

O-42 COSTA RICA NATIONAL NEWBORN SCREENING LABORATORY´S EXPERIENCE IN DIAGNOSING ALPHA-1 ANTITRYPSIN DEFICIENCY

Annals of Hepatology, 2023
Introduction and Objectives: Alpha-1 antitrypsin (AAT) is an acute-phase glycoprotein encoded by the SERPINA1 gene. This allele has a codominant expression and Alpha-1 antitrypsin deficiency (AATD) is caused by the inheritance of two affected alleles ...
Mariela Solano-Vargas, Juan Diego Gutiérrez-Ávila, Jessica Arroyo-Hernández, Danny Alvarado-Romero, Natassia Camacho-Matamoros, Mildred Jiménez-Hernández   +5 more
doaj   +1 more source

A novel haemoglobin variant mimicking cyanotic congenital heart disease [PDF]

, 2016
Screening for critical congenital heart defects in newborn babies can aid in early recognition, with the prospect of improved outcome. However, as this universal newborn screening is implemented, there will be an increasing number of false-positive ...
Abecasis, F, Bento, C, Ferrão, A, Marques, I   +3 more
core   +2 more sources

Quantitative characterization of the urine and serum metabolomes of children is essential for ‘omics’ studies

BMC Medicine, 2018
Understanding the long-term health impacts of the early-life exposome requires the characterization and assimilation of multi ‘omics’ data to ultimately link molecular changes to exposures.
Alicia DiBattista, Pranesh Chakraborty
doaj   +1 more source

The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices

Frontiers in Immunology, 2020
Severe combined immunodeficiency (SCID) is T cell development disorders in the immune system and can be detected at birth. As of December 2018, all 53 newborn screening (NBS) programs within the United States and associated territories offer universal ...
Ruthanne Sheller, Jelili Ojodu, Emma Griffin, Sari Edelman, Careema Yusuf, Trey Pigg, Alissa Huston, Brian Fitzek, John G. Boyle, Sikha Singh   +9 more
doaj   +1 more source

Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease

International Journal of Neonatal Screening, 2022
In this study, we modified a fully automatic immunoassay on ceruloplasmin concentration on dried blood spots (DBS) to increase its analytical sensitivity in order to accurately differentiate newborns from true Wilson disease (WD) patients.
Chloe Miu Mak, Ching Tung Choi, Tsz Ki Wong, Hanson Heearn Chin, Hillman Kai Yin Lai, Koon Yu Yuet   +5 more
doaj   +1 more source

Newborn hearing screening

Srpski arhiv za celokupno lekarstvo, 2007
Introduction: Prevalence of sensorineural hearing loss is 1-3 per 1,000 newborns. Transient evoked otoacoustic emission (TEOAE) and automated auditory brain stem responses (AABR) are most frequently used methods in newborn hearing screening programmes. Objective.
Babac Snežana, Đerić Dragoslava, Ivanković Zoran   +2 more
openaire   +4 more sources