Results 11 to 20 of about 1,407,914 (310)
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 +12 more
core +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 +2 more sources
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
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
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.
John H, Walter +2 more
openaire +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 +3 more
doaj +1 more source
Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report [PDF]
, 2009 Newborn screening for cystic fibrosis offers the opportunity for early intervention and improved outcomes. This summary, resulting from a workshop sponsored by the Cystic Fibrosis Foundation to facilitate implementation of widespread high quality cystic ...
Massie, John H. +11 more
core +1 more source
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
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 +5 more
doaj +1 more source