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Expanded Screening ...
Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data.
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- Sörensen, Lene (author)
- Karolinska Institutet
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- von Döbeln, Ulrika (author)
- Karolinska Institutet
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Åhlman, Henrik (author)
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- Ohlsson, Annika (author)
- Uppsala universitet,Centrum för klinisk forskning i Sörmland (CKFD)
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- Engvall, Martin (author)
- Karolinska Institutet
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Naess, Karin (author)
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Backman-Johansson, Carolina (author)
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Nordqvist, Yvonne (author)
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- Wedell, Anna (author)
- Karolinska Institutet
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- Zetterström, Rolf H (author)
- Karolinska Institutet
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(creator_code:org_t)
- 2020-05-27
- 2020
- English.
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In: International journal of neonatal screening. - : MDPI AG. - 2409-515X. ; 6:2
- Related links:
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https://www.mdpi.com...
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https://urn.kb.se/re...
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https://doi.org/10.3...
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http://kipublication...
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Abstract
Subject headings
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- 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.
Keyword
- Collaborative Laboratory Integrated Reports (CLIR)
- dried blood spots (DBS)
- expanded screening
- newborn screening
- positive predictive value (PPV)
- post-analytical evaluation
- tandem mass spectrometry
Publication and Content Type
- ref (subject category)
- art (subject category)
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