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Your search keyword '"Karin Naess"' showing total 2 results
Start Over Author "Karin Naess" Journal international journal of neonatal screening
2 results on '"Karin Naess"'

1. Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data

Author

Lene Sörensen, Ulrika von Döbeln, Henrik Åhlman, Annika Ohlsson, Martin Engvall, Karin Naess, Carolina Backman-Johansson, Yvonne Nordqvist, Anna Wedell, and Rolf H. Zetterström

Subjects
newborn screening, post-analytical evaluation, Collaborative Laboratory Integrated Reports (CLIR), tandem mass spectrometry, expanded screening, dried blood spots (DBS), Pediatrics, RJ1-570
Abstract

Sweden has one neonatal screening laboratory, receiving 115 to 120 thousand samples per year. Among the one million babies screened by tandem mass spectrometry from November 2010 until July 2019, a total of 665 babies were recalled and 311 verified as having one of the diseases screened for with this methodology, giving a positive predictive value (PPV) of 47% and an incidence of 1:3200. The PPV was high (41%) already in the first year after start of screening, thanks to the availability of the collaborative project Region 4 Stork database. The PPV is presently 58%. This improvement was achieved by the implementation of second-tier analyses in the screening for methylmalonic aciduria, propionic aciduria, isovaleric aciduria, and homocystinuria, and the employment of various post analytical tools of the Region 4 Stork, and its successor the collaborative laboratory integrated reports.

Published
2020
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2. Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data

Author

Carolina Backman-Johansson, Rolf Zetterström, Martin Engvall, Anna Wedell, Henrik Åhlman, Yvonne Nordqvist, Annika Ohlsson, Ulrika von Döbeln, Lene Sörensen, and Karin Naess

Subjects
0301 basic medicine, Pediatrics, medicine.medical_specialty, 030105 genetics & heredity, Article, post-analytical evaluation, 03 medical and health sciences, Immunology and Microbiology (miscellaneous), tandem mass spectrometry, Medicine, dried blood spots (DBS), Newborn screening, biology, business.industry, newborn screening, Incidence (epidemiology), positive predictive value (PPV), lcsh:RJ1-570, Obstetrics and Gynecology, lcsh:Pediatrics, Stork, Collaborative Laboratory Integrated Reports (CLIR), biology.organism_classification, Predictive value, 030104 developmental biology, Methylmalonic aciduria, Pediatrics, Perinatology and Child Health, business, expanded screening
Abstract

Sweden has one neonatal screening laboratory, receiving 115 to 120 thousand samples per year. Among the one million babies screened by tandem mass spectrometry from November 2010 until July 2019, a total of 665 babies were recalled and 311 verified as having one of the diseases screened for with this methodology, giving a positive predictive value (PPV) of 47% and an incidence of 1:3200. The PPV was high (41%) already in the first year after start of screening, thanks to the availability of the collaborative project Region 4 Stork database. The PPV is presently 58%. This improvement was achieved by the implementation of second-tier analyses in the screening for methylmalonic aciduria, propionic aciduria, isovaleric aciduria, and homocystinuria, and the employment of various post analytical tools of the Region 4 Stork, and its successor the collaborative laboratory integrated reports.

Published
2020

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