Abstract
In 2012, the Norwegian newborn screening program (NBS) was expanded (eNBS) from screening for two diseases to that for 23 diseases (20 inborn errors of metabolism, IEMs) and again in 2018, to include a total of 25 conditions (21 IEMs). Between 1 March 2012 and 29 February 2020, 461,369 newborns were screened for 20 IEMs in addition to phenylketonuria (PKU). Excluding PKU, there were 75 true-positive (TP) (1:6151) and 107 (1:4311) false-positive IEM cases. Twenty-one percent of the TP cases were symptomatic at the time of the NBS results, but in two-thirds, the screening result directed the exact diagnosis. Eighty-two percent of the TP cases had good health outcomes, evaluated in 2020. The yearly positive predictive value was increased from 26% to 54% by the use of the Region 4 Stork post-analytical interpretive tool (R4S)/Collaborative Laboratory Integrated Reports 2.0 (CLIR), second-tier biochemical testing and genetic confirmation using DNA extracted from the original dried blood spots. The incidence of IEMs increased by 46% after eNBS was introduced, predominantly due to the finding of attenuated phenotypes. The next step is defining which newborns would truly benefit from screening at the milder end of the disease spectrum. This will require coordinated international collaboration, including proper case definitions and outcome studies.
Highlights
An application for an expanded newborn screening program in Norway was presented to the Norwegian Directory of Health in 2006
The newborn screening program (NBS) result was the first diagnostic indication in eleven symptomatic newborns, whereas five newborns (IVA (n = 1)—propionic aciduria (PA) (n = 2), methylmalonic aciduria (MMA) (n = 1) and trifunctional protein deficiency (TFP) (n = 1))—were diagnosed by targeted diagnostic testing before the NBS result was available
The biochemical profile including second-tier testing and supplemented by the interpretation provided by the Region 4 Stork (R4S)/Collaborative Laboratory Integrated Reports 2.0 (CLIR) in silico tools remains the strongest basis for the decision on whom to report
Summary
An application for an expanded newborn screening (eNBS) program in Norway was presented to the Norwegian Directory of Health in 2006. In March 2012, the Norwegian NBS program was expanded to include 23 disorders following a parliamentary decision and a revision of the regulations on the mass genetic screening of newborns. The NBS program in Norway is governed by general legislation covering all national specialist health care services in Norway and a specific regulation on the mass genetic testing of newborns. Parents have the option to decline participation in the NBS program and can refuse the storage of the screening sample. Using NBS samples for research purposes generally requires permission from the Regional Committees for Medical and Health Research Ethics and additional parental written consent
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