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

Sörensen, Lene; Döbeln, Ulrika von; Åhlman, Henrik; Ohlsson, A; Engvall, Martin; Naess, K; Backman-Johansson, Carolina; Nordqvist, Yvonne; Wedell, Anna; Zetterström, Rolf

doi:10.3390/ijns6020042

Cited by 16 publications

(23 citation statements)

References 36 publications

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“…We considered the use of next-generation sequencing technology, reduced costs and greater access to MS/MS and the use of big data technology (e.g., the application of R4S/CLIR to evaluate screening results) as important changes [ 34 , 35 , 36 , 37 ]. Finland, Iceland, Norway and Sweden use CLIR for evaluation of individual screening results [ 26 , 38 ]. The Czech Republic uses the CLIR website to evaluate cut-off levels.…”

Section: Resultsmentioning

confidence: 99%

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

Loeber¹,

Platis

Zetterström

et al. 2021

IJNS

Self Cite

157

180

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Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS/MS), making it possible to screen for 40–50 conditions using a single blood spot. The most recent additions to screening programmes (screening for cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through the introduction of molecular technologies. For this survey, we collected data from 51 European countries. We report the developments between 2010 and 2020 and highlight the achievements reached with the progress made in this period. We also identify areas where further progress can be made, mainly by exchanging knowledge and learning from experiences in neighbouring countries. Between 2010 and 2020, most NBS programmes in geographical Europe matured considerably, both in terms of methodology (modernised) and with regard to the panel of conditions screened (expanded). These developments indicate that more collaboration in Europe through European organisations is gaining momentum. We can only accomplish the timely detection of newborn infants potentially suffering from one of the many rare diseases and take appropriate action by working together.

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Section: Resultsmentioning

confidence: 99%

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

Loeber¹,

Platis

Zetterström

et al. 2021

IJNS

Self Cite

157

180

View full text Add to dashboard Cite

show abstract

“…This is a rare (orphan) disease. The prevalence is 1: 110,000 newborns in Sweden [31] to 1: 1,148,000 in Korea [32].…”

Section: Resultsmentioning

confidence: 98%

Reference intervals of amino acid for newborns in North Asia: Diagnosing Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry

Bairova

Bel’skikh

Atalyan

et al. 2021

Preprint

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Aim. To establish reference intervals for blood amino acids in healthy newborns of North Asia measured by liquid chromatography tandem mass spectrometry and evaluate their differences from respective reference values for newborns from other populations. Objectives. A cross-sectional study of 381 healthy newborns was conducted. De-identified dried blood spots annotated by age, birth-weight, and sex were obtained from 381 healthy newborns aged 0-7 days. Data was collected from April to May of 2020. Methods. Dried blood spots collected from filtered paper were used to analyze and measure of 13 derivatized amino acids using LC-MS/MS method. Nonparametric statistical approaches were used to generate 2.5th-97.5th percentile distributions for newborns in North Asia in accordance with CLSI EP28-A3с. Results. Reference intervals (RI) for phenylalanine, tyrosine, citrulline, alanine, ornithine, proline in North Asian newborns differ slightly from those of newborns in other countries around the world. This allows for the use of universal RI in the diagnosis of congenital metabolic disorders of the indicated amino acids (AA) in different populations around the world. The RI for branched-chain essential AA (valine, leucine, and isoleucine are metabolic criteria for maple syrup disease) are higher in North Asian infants as compared to infants in other populations. In addition, the RI for arginine, aspartic acid, and glutamic acid in North Asian newborns are higher than in newborns in other countries around the world. In our study, the RI for methionine in newborns were lower than in many countries worldwide [McHugh D, 2011]. For optimal clinical practice, RI for certain AA in newborns (valine, leucine, isoleucine, methionine, arginine, aspartic acid, glutamic acid) should be determined for specific populations - further augmenting the diagnosis of inborn errors of metabolism.

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“…It also gives the possibility to filter away "unwanted" diagnoses sharing a biomarker with a "wanted" diagnosis. When used in such a set-up, the valuable functional data obtained via tandem mass spectrometry or other biochemical methods will still be available and usability could be extended further via the inclusion of metabolomics or the Collaborative Laboratory Integrated Reports (CLIR) tool to further define phenotype [5,[52][53][54][55]. In our view, targeted NGS technology as a second-tier technology should be implemented when possible in the NBS workflow.…”

Section: Discussionmentioning

confidence: 99%

Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

Lund

Wibrand

Skogstrand

et al. 2021

IJNS

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Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow. We describe the application of molecular genetic analyses in the Danish NBS programme and show that second-tier molecular genetic testing is useful to reduce the false positive rate while simultaneously providing information about the precise molecular genetic variant and thus informing therapeutic strategy and easing providing information to parents. When molecular genetic analyses are applied as second-tier testing, valuable functional data from biochemical methods are available and in our view, such targeted NGS technology should be implemented when possible in the NBS workflow. First-tier NGS technology may be a promising future possibility for disorders without a reliable biomarker and as a general approach to increase the adaptability of NBS for a broader range of genetic diseases, which is important in the current landscape of quickly evolving new therapeutic possibilities. However, studies on feasibility, sensitivity, and specificity are needed as well as more insight into what views the general population has towards using genetic analyses in NBS. This may be sensitive to some and could have potentially negative consequences for the NBS programme.

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

Cited by 16 publications

References 36 publications

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

Reference intervals of amino acid for newborns in North Asia: Diagnosing Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry

Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

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