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Genetics in Medicine, 2021
Newborn screening disorders increasingly require genetic variant analysis as part of second-tier or confirmatory testing. Sanger sequencing and gene-specific next-generation sequencing (NGS)-based tests, the current methods of choice, are costly and lack scalability when expanding to new conditions.
Nicole Ruiz-Schultz +11 more
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Newborn screening disorders increasingly require genetic variant analysis as part of second-tier or confirmatory testing. Sanger sequencing and gene-specific next-generation sequencing (NGS)-based tests, the current methods of choice, are costly and lack scalability when expanding to new conditions.
Nicole Ruiz-Schultz +11 more
openaire +2 more sources
Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test
Molecular Genetics and Metabolism, 2022Citrin deficiency is an autosomal recessive disorder caused by variants of the SLC25A13 gene. Although newborn screening (NBS) provides an opportunity for its early diagnosis and treatment, citrin deficiency detection rates remain lower than those estimated.Before 2018, NBS for citrin deficiency was based on citrulline levels alone.
Hui-An, Chen +8 more
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Next-generation sequencing as a second-tier diagnostic test for newborn screening
Journal of Pediatric Endocrinology and Metabolism, 2018Abstract Background Tandem mass spectrometry (MS/MS) has been used for newborn screening (NBS) of inherited metabolic diseases (IMDs) for decades. However, the traditional approach can yield false-positive or false-negative results and is affected by biochemical substrate-level fluctuations.
Xiaomei Luo +4 more
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Pilot proficiency testing study for second tier congenital adrenal hyperplasia newborn screening
Clinica Chimica Acta, 2010Congenital adrenal hyperplasia (CAH) is caused by inherited defects in steroid biosynthesis. The Newborn Screening Quality Assurance Program (NSQAP) initiated a pilot, dried-blood spot (DBS)-based proficiency testing program designed to investigate materials and laboratory performance for second tier CAH screening by tandem mass spectrometry (MS/MS ...
Víctor R, De Jesús +5 more
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American Journal of Medical Genetics Part A, 2020
AbstractMucopolysaccharidosis type I (MPS I)/Hurler syndrome newborn screening was added to the recommended uniform screening panel (RUSP) in 2016. As states have added screening for MPS I, programs have reported increased rates of false positives. Reasons for false positive screens include carrier status, true false positive, late‐onset/attenuated ...
Kerri Bosfield +5 more
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AbstractMucopolysaccharidosis type I (MPS I)/Hurler syndrome newborn screening was added to the recommended uniform screening panel (RUSP) in 2016. As states have added screening for MPS I, programs have reported increased rates of false positives. Reasons for false positive screens include carrier status, true false positive, late‐onset/attenuated ...
Kerri Bosfield +5 more
openaire +2 more sources
Prenatal microarray analysis as second‐tier diagnostic test: single‐center prospective study
Ultrasound in Obstetrics & Gynecology, 2013ABSTRACTObjectiveTo evaluate the usefulness of chromosome microarrays as a second‐tier test in prenatal genetic testing.MethodsWe prospectively analyzed 75 high‐risk pregnancies undergoing invasive prenatal genetic testing in which the karyotype either was normal or had findings other than a common non‐mosaic autosomal aneuploidy.ResultsChromosomal ...
M, Schmid +5 more
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Journal of Inherited Metabolic Disease, 2010
AbstractCommon use of pivalate‐generating antibiotics in newborns in Japan and low cutoff value of C5‐acylcarnitine (C5) to detect mild forms of isovaleric acidemia (IVA) led to 1,065 positive results from IVA screening among 146,000 newborns tested by tandem mass spectrometry over the last 3 years. Using our method to determine isovalerylglycine (IVG)
Yosuke, Shigematsu +2 more
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AbstractCommon use of pivalate‐generating antibiotics in newborns in Japan and low cutoff value of C5‐acylcarnitine (C5) to detect mild forms of isovaleric acidemia (IVA) led to 1,065 positive results from IVA screening among 146,000 newborns tested by tandem mass spectrometry over the last 3 years. Using our method to determine isovalerylglycine (IVG)
Yosuke, Shigematsu +2 more
openaire +2 more sources
Newborn screening for primary carnitine deficiency using a second-tier genetic test
Journal of Pediatric Endocrinology and MetabolismAbstract Objectives Newborn screening (NBS) for primary carnitine deficiency (PCD) exhibits suboptimal performance. This study proposes a strategy to enhance the efficacy of second-tier genetic screening by adjusting the cutoff value for free carnitine (C0).
Yiming, Lin +4 more
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Second-tier testing for homocystinuria and for maple syrup urine disease
2012One difficulty that many laboratories face with expanded newborn screening is a high number of false positive test results. Modifying cutoffs has been used to reduce the false positive rate, but this is done at the expense of increasing the number of false negative test results.
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Detection of Maple Syrup Urine Disease on Newborn Screening Second Tier Testing for Phenylketonuria
Acta Medica Philippina, 2009...
Sylvia Capistrano-Estrada +1 more
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