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  • Sörensen, LeneKarolinska Institutet (author)

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

  • Article/chapterEnglish2020

Publisher, publication year, extent ...

  • 2020-05-27
  • MDPI AG,2020
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-427131
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-427131URI
  • https://doi.org/10.3390/ijns6020042DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:233073033URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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.

Subject headings and genre

  • Collaborative Laboratory Integrated Reports (CLIR)
  • dried blood spots (DBS)
  • expanded screening
  • newborn screening
  • positive predictive value (PPV)
  • post-analytical evaluation
  • tandem mass spectrometry

Added entries (persons, corporate bodies, meetings, titles ...)

  • von Döbeln, UlrikaKarolinska Institutet (author)
  • Åhlman, Henrik (author)
  • Ohlsson, AnnikaUppsala universitet,Centrum för klinisk forskning i Sörmland (CKFD) (author)
  • Engvall, MartinKarolinska Institutet (author)
  • Naess, Karin (author)
  • Backman-Johansson, Carolina (author)
  • Nordqvist, Yvonne (author)
  • Wedell, AnnaKarolinska Institutet (author)
  • Zetterström, Rolf HKarolinska Institutet (author)
  • Karolinska InstitutetCentrum för klinisk forskning i Sörmland (CKFD) (creator_code:org_t)

Related titles

  • In:International journal of neonatal screening: MDPI AG6:22409-515X

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