Results 31 to 40 of about 1,922,511 (410)
International Journal of Neonatal Screening, 2021 Population-based newborn screening for Krabbe disease was initiated by measurement of galactocerebrosidase (GALC) activity in the state of Illinois in December 2017.
Khaja Basheeruddin +4 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
semanticscholar +1 more source
Scientific Reports, 2021 Expanded newborn screening facilitates early identification and intervention of patients with inborn errors of metabolism (IEMs), There is a lack of disease spectrum data for many areas in China.
Ruixue Zhang +11 more
semanticscholar +1 more source
Informed choice and public health screening for children: the case of blood spot screening [PDF]
, 2005 Objective: To examine parents' and health professionals' views on informed choice in newborn blood spot screening, and assess information and communication needs. Design and participants: A qualitative study involving semi-structured telephone interviews
Hargreaves, Katrina +2 more
core +3 more sources
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 +5 more
doaj +1 more source
Journal of Laboratory Medicine, 2021 Next generation sequencing (NGS) technology has allowed cost-effective massive parallel DNA sequencing. To evaluate the utility of NGS for newborn screening (NBS) of inborn errors of metabolism (IEM), a custom panel was designed to target 87 disease ...
Tsang Kwok Yeung +5 more
doaj +1 more source
Early Check: translational science at the intersection of public health and newborn screening
BMC Pediatrics, 2019 Background Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based public health program in the United States, NBS offers the promise of making the successes of ...
Donald B. Bailey +23 more
doaj +1 more source
Newborn Screening and the Obstetrician [PDF]
Obstetrics & Gynecology, 2012 Newborn screening is the largest genetic screening program in the United States with approximately four million newborns screened yearly. It has been available and in continuous development for more than 50 years. Each state manages, funds, and maintains its own individual program, which encompasses newborn screening as well as the diagnosis and ...
Nancy C. Rose, Siobhan M. Dolan
openaire +3 more sources
Journal of the American Medical Association (JAMA), 2020 Importance Treating biliary atresia in newborns earlier can delay or prevent the need for liver transplant; however, treatment typically occurs later because biliary atresia is difficult to detect during its early stages.
S. Harpavat +9 more
semanticscholar +1 more source
Newborn Hearing Screening Benefits Children, But Global Disparities Persist
Journal of Clinical Medicine, 2022 There is substantial evidence that newborn hearing screening (NHS) reduces the negative sequelae of permanent childhood hearing loss (PCHL) if performed in programs that aim to screen all newborns in a region or nation (often referred to as Universal ...
K. Neumann +4 more
semanticscholar +1 more source