Related Experiment Video
Updated: Dec 5, 2025
Use of a Video Scoring Anchor for Rapid Serial Assessment of Social Communication in Toddlers
Published on: March 14, 2018
Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data
Lene Sörensen1,2, Ulrika von Döbeln1,3, Henrik Åhlman1
1Centre for Inherited Metabolic Diseases, Karolinska University Hospital Solna, SE-171 76 Stockholm, Sweden; ulrika.vondobeln@sll.se (U.v.D.); henrik.ahlman@sll.se (H.Å.); annika.ohlsson@eskilstuna.se (A.O.); martin.engvall@sll.se (M.E.); karin.naess@ki.se (K.N.); carolina.backman-johansson@sll.se (C.B.-J.); yvonne.m.nordqvist@sll.se (Y.N.); anna.wedell@ki.se (A.W.); rolf.zetterstrom@sll.se (R.H.Z.).
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.
More Related Videos
14:14Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR
Published on: December 6, 2014
06:46A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19
Published on: July 5, 2022