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

• Main Authors: Lene Sörensen (Author), Ulrika von Döbeln (Author), Henrik Åhlman (Author), Annika Ohlsson (Author), Martin Engvall (Author), Karin Naess (Author), Carolina Backman-Johansson (Author), Yvonne Nordqvist (Author), Anna Wedell (Author), Rolf H. Zetterström (Author)
• Format: Book
• Published: MDPI AG, 2020-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.3390/ijns6020042; 2409-515X
• Keywords: newborn screening; post-analytical evaluation; Collaborative Laboratory Integrated Reports (CLIR); tandem mass spectrometry; expanded screening; dried blood spots (DBS); Pediatrics; RJ1-570
• Source: International Journal of Neonatal Screening, Vol 6, Iss 2, p 42 (2020)

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.