ISNS; International Society for Neonatal Screening; congenital endocrine disorders; congenital metabolic disorders; dried blood spot screening; neonatal screening; newborn screening; public health; rare diseases
Abstract :
[en] 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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Loeber, J. Gerard
Platis, Dimitris
Zetterström, Rolf H.
Almashanu, Shlomo
BOEMER, François ; Centre Hospitalier Universitaire de Liège - CHU > Unilab > Laboratoire Biochimie Génétique
Woolf, L.I.; Adams, J. The Early History of PKU. Int. J. Neonatal Screen. 2020, 6, 59.
Følling, I.A. Über Ausscheidung von phenylbrenztraubensäure in den harn als stoffwechselanomalie in verbindung mit imbezillität. Hoppe Seylers Z. Physiol. Chem. 1934, 227, 169-181. (In German)
Centerwall,W.R. Phenylketonuria. J. Am. Med. Assoc. 1957, 165, 392.
Laxova, R. Lionel Sharples Penrose, 1898-1972: A personal memoir in celebration of the centenary of his birth. Genetics 1998, 150, 1333-1340.
Guthrie, R.; Susi, A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963, 32, 338-343.
Dussault, J.H.; Laberge, C. Thyroxine (T4) determination by radioimmunological method in dried blood eluate: New diagnostic method of neonatal hypothyroidism? Union Med. Can. 1973, 102, 2062-2064.
Millington, D.S.; Kodo, N.; Norwood, D.L.; Roe, C.R. Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J. Inherit. Metab. Dis. 1990, 13, 321-324.
Rashed, M.S.; Ozand, P.T.; Harrison, M.E.; Watkins, P.J.F.; Evans, S.; Baillie, P.T.A. Electrospray tandem mass spectrometry in the diagnosis of organic acidemias. Rapid Commun. Mass Spectrom. 1994, 8, 129-133.
Schulze, A.; Lindner, M.; Kohlmüller, D.; Olgemöller, K.; Mayatepek, E.; Hoffmann, G.F. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: Results, outcome, and implications. Pediatrics 2003, 111, 1399-1406.
Wilson, J.M.; Jungner, Y.G. Principles and practice of mass screening for disease. Bull. WHO 1968, 65, 281-393.
International Society for Neonatal Screening-Region Europe. Available online: https://www.isns-neoscreening.org/isnsregions/ region-europe/ (accessed on 18 November 2020).
Wikipedia. List of European Countries by Population. Available online: https://en.wikipedia.org/wiki/List_of_European_ countries_by_population (accessed on 27 September 2020).
World Bank Data. Birth Rate. Available online: https://data.worldbank.org/indicator/sp.dyn.cbrt.in (accessed on 27 September 2020).
Burgard, P.; Cornel, M.C.; Di Filippo, F.; Heage, G.; Hoffmann, G.F.; Lindner, M.; Loeber, J.G.; Rigter, T.; Rupp, K.; Taruscio, D.; et al. Short Executive Summary of the Report on the Practices of Newborn Screening for Rare Disorders in Member States of the European Union, Candidate and Potential Candidate, and EFTA Countries; International Society for Neonatal Screening: Bilthoven, The Netherlands, 2011; Available online: http://www.isns-neoscreening.org/wp-content/uploads/2016/06/Summary20111018.pdf (accessed on 18 November 2020).
Cornel, M.C.; Rigter, T.; Weinreich, S.S.; Burgard, P.; Hoffmann, G.F.; Lindner, M.; Loeber, J.G.; Rupp, K.; Taruscio, D.; Vittozzi, L. Newborn screening in Europe; expert opinion document. Eur. J. Hum. Genet. 2014, 22, 12-17.
Loeber, J.G. European union should actively stimulate and harmonise neonatal screening initiatives. Int. J. Neonatal Screen. 2018, 4, 32.
Loeber, J.G. Neonatal screening in Europe; situation in 2004. J. Inherhit. Metab. Dis. 2007, 30, 430-438.
Loeber, J.G.; Burgard, P.; Cornel, M.C.; Rigter, T.; Weinreich, S.S.; Rupp, K.; Hoffmann, G.F.; Vittozzi, L. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1-From blood spot to screening result. J. Inherit. Metab. Dis. 2012, 35, 603-611.
Burgard, P.; Rupp, K.; Lindner, M.; Haege, G.; Rigter, T.; Weinreich, S.S.; Loeber, J.G.; Taruscio, D.; Vittozzi, L.; Cornel, M.C.; et al. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2-From screening laboratory results to treatment, follow-up and quality assurance. J. Inherit. Metab. Dis. 2012, 35, 613-625.
Therrell, B.L.; Padilla, C.D.; Loeber, J.G.; Kneisser, I.; Saadallah, A.; Borrajo, G.J.; Adams, J. Current status of newborn screening worldwide: 2015. Semin. Perinatol. 2015, 39, 171-187.
Groselj, U.; Tansek, M.Z.; Smon, A.; Angelkova, N.; Anton, D.; Baric, I.; Djordjevic, M.; Grimci, L.; Ivanova, M.; Kadam, A.; et al. Newborn screening in southeastern Europe. Mol. Genet. Metab. 2014, 113, 42-45.
Roscher, A. Unpublished work. 2021.
Estrella, J.;Wilcken, B.; Carpenter, K.; Bhattacharya, K.; Tchan, M.;Wiley, V. Expanded newborn screening in New SouthWales: Missed cases. J. Inherit. Metab. Dis. 2014, 37, 881-887.
Boneh, A.; Andresen, B.S.; Gregersen, N.; Ibrahim, M.; Tzanakos, N.; Peters, H.; Yaplito-Lee, J.; Pitt, J. VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Mol. Genet. Metab. 2006, 88, 166-170.
Schymik, I.; Liebig, M.; Mueller, M.; Wendel, U.; Mayatepek, E.; Strauss, A.W.; Wanders, R.J.A.; Spiekerkoetter, U. Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. J. Pediatrics 2006, 149, 128-130.
Tangeraas, T.; Sæves, I.; Klingenberg, C.; Jørgensen, J.; Kristensen, E.; Gunnarsdottir, G.; Hansen, E.; Strand, J.; Lundman, E.; Ferdinandusse, S.; et al. Performance of expanded newborn screening in Norway supported by post-analytical bioinformatics tools and rapid second-tier dna analyses. Int. J. Neonatal Screen. 2020, 6, 51.
Van Rijt, W.J.; Schielen, P.C.; Özer, Y.; Bijsterveld, K.; Van der Sluijs, F.H.; Derks, T.G.; Heiner-Fokkema, M.R. Instability of acylcarnitines in stored dried blood spots: The impact on retrospective analysis of biomarkers for inborn errors of metabolism. Int. J. Neonatal Screen. 2020, 6, 83-95.
General Data Protection Regulation (GDPR) 2016. Available online: https://eur-lex.europa.eu/legal-content/EN/TXT/?uri= celex%3A32016R0679 (accessed on 18 November 2020).
Lanting, C.I.; Van Tijn, D.A.; Loeber, J.G.; Vulsma, T.; de Vijlder, J.J.; Verkerk, P.H. Clinical effectiveness and cost-effectiveness of the use of the thyroxine/thyroxine-binding globulin ratio to detect congenital hypothyroidism of thyroidal and central origin in a neonatal screening program. Pediatrics 2005, 116, 168-173.
Stroek, K.; Heijboer, A.C.; Bouva, M.J.; Van der Ploeg, C.P.B.; Heijnen, M.-L.A.; Weijman, G.; Bosch, A.M.; De Jonge, R.; Schielen, P.C.J.I.; Van Trotsenburg, A.S.P.; et al. Critical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands. Eur. J. Endocrinol. 2020, 183, 265-273.
Boemer, F.; Caberg, J.-H.; Dideberg, V.; Dardenne, D.; Bours, V.; Hiligsmann, M.; Dangouloff, T.; Servais, L. Newborn screening for SMA in Southern Belgium. Neuromuscul. Disord. 2019, 29, 343-349.
Vill, K.; Köbel, H.; Schwartz, O.; Blaschek, A.; Olgemöller, B.; Harms, E.; Burggraf, S.; Röschinger, W.; Dumer, J.; Gläser, D.; et al. One year of newborn screening for SMA. Results of a German pilot project. J. Neuromuscul. Dis. 2019, 6, 503-515.
Burlina, A.B.; Polo, G.; Salviati, L.; Duro, G.; Zizzo, C.; Dardis, A.; Bembi, B.; Cazzorla, C.; Rubert, L.; Zordan, R.; et al. Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy. J. Inherit. Metab. Dis. 2018, 41, 209-219.
CLIR-Collaborative Laboratory Integrated Reports. Available online: https://clir.mayo.edu/ (accessed on 15 December 2020).
McHugh, D.; Cameron, C.A.; Abdenur, J.E.; Abdulrahman, M.; Adair, O.; Al Nuaimi, S.A.; Ahlman, H.; Allen, J.J.; Antonozzi, I.; Archer, S.; et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spec-trometry: A worldwide collaborative project. Genet. Med. 2011, 13, 230-254.
Sörensen, L.; Von Döbeln, U.; Åhlman, H.; Ohlsson, A.; Engvall, M.; Naess, K.; Backman-Johansson, C.; Nordqvist, Y.; Wedell, A.; Zetterström, R.H. Expanded screening of one million Swedish babies with R4S and CLIR for post-analytical evaluation of data. Int. J. Neonatal Screen. 2020, 6, 42.
Lundman, E.; Gaup, H.J.; Bakkeheim, E.; Olafsdottir, E.J.; Rootwelt, T.; Storrøsten, O.T.; Pettersen, R.D. Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years. J. Cyst. Fibros. 2016, 15, 318-324.
Severin, F.; Borry, P.; Cornel, M.C.; Daniels, N.; Fellmann, F.; Hodgson, S.V.; Howard, H.C.; John, J.; Kääriäinen, H.; Kayserili, H.; et al. Points to consider for prioritizing clinical genetic testing services: A European consensus process oriented at accountability for reasonableness. Eur. J. Hum. Genet. 2015, 23, 729-735.
International Society for Neonatal Screening. Databank Disorders. Available online: https://membership.isns-neoscreening.org/ disorders/ (accessed on 15 December 2020).
International Society for Neonatal Screening. Guidelines. Available online: https://www.isns-neoscreening.org/isns-generalguidelines- for-neonatal-screening/ (accessed on 15 December 2020).