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- Sörensen, Lene, et al.
(author)
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Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data.
- 2020
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In: International journal of neonatal screening. - : MDPI AG. - 2409-515X. ; 6:2
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Journal article (peer-reviewed)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.
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