International Neonatal Screening Day, 28 June 2025
Since 2021, International Neonatal Screening Day has been observed each year on the 28th of June, providing a unique chance to celebrate the vision of those who helped make this possible and encouraging a new generation of doctors, scientists, and policymakers to extend these benefits to more children suffering from a wider range of disorders. On this occasion, we have selected ten papers on neonatal screening published in the International Journal of Neonatal Screening (IJNS, ISSN: 2409-515X) since 2024 that showcase the latest advances and insights in this field. The journal is owned by the International Society for Neonatal Screening (ISNS).
“ISNS General Guidelines for Neonatal Bloodspot Screening 2025”
by Dianne Webster, Amy Gaviglio, Aysha Habib Khan, Mei Baker, David Cheillan, Layachi Chabraoui, Ghassan Abdoh, Juan Cabello, Roberto Giugliani, Dimitris Platis et al.
Int. J. Neonatal Screen. 2025, 11(2), 45; https://doi.org/10.3390/ijns11020045
“Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation”
by Meghan E. McGarry, Karen S. Raraigh, Philip Farrell, Faith Shropshire, Karey Padding, Cambrey White, M. Christine Dorley, Steven Hicks, Clement L. Ren, Kathryn Tullis et al.
Int. J. Neonatal Screen. 2025, 11(2), 24; https://doi.org/10.3390/ijns11020024
“Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program”
by Sabrina Malvagia, Alessandra Bettiol, Margherita Porcaro, Massimo Mura, Silvia Funghini, Daniela Ombrone, Giulia Forni, Emanuela Scolamiero, Filippo Coppi, Roberta Damiano et al.
Int. J. Neonatal Screen. 2025, 11(2), 30; https://doi.org/10.3390/ijns11020030
“International Survey on Phenylketonuria Newborn Screening”
by Domen Trampuž, Peter C. J. I. Schielen, Rolf H. Zetterström, Maurizio Scarpa, François Feillet, Viktor Kožich, Trine Tangeraas, Ana Drole Torkar, Matej Mlinarič, Daša Perko et al.
Int. J. Neonatal Screen. 2025, 11(1), 18; https://doi.org/10.3390/ijns11010018
“Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population”
by Diogo Rodrigues, Ana Marcão, Lurdes Lopes, Ana Ventura, Teresa Faria, Anabela Ferrão, Carolina Gonçalves, Paula Kjöllerström, Ana Castro, Sofia Fraga et al.
Int. J. Neonatal Screen. 2025, 11(1), 10; https://doi.org/10.3390/ijns11010010
“Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community”
by Alba Berzal-Serrano, Belén García-Bohórquez, Elena Aller, Teresa Jaijo, Inmaculada Pitarch-Castellano, Dolores Rausell, Gema García-García and José M. Millán
Int. J. Neonatal Screen. 2025, 11(1), 7; https://doi.org/10.3390/ijns11010007
“Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy”
by Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill and Alice Bessey
Int. J. Neonatal Screen. 2024, 10(3), 49; https://doi.org/10.3390/ijns10030049
“Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)”
by Bradford L. Therrell, Carmencita D. Padilla, Gustavo J. C. Borrajo, Issam Khneisser, Peter C. J. I. Schielen, Jennifer Knight-Madden, Helen L. Malherbe and Marika Kase
Int. J. Neonatal Screen. 2024, 10(2), 38; https://doi.org/10.3390/ijns10020038
“Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents”
by Lieke M. van den Heuvel, Sylvia M. van der Pal, Rendelien K. Verschoof-Puite, Jasmijn E. Klapwijk, Ellen Elsinghorst, Eugènie Dekkers, Catharina P. B. van der Ploeg and Lidewij Henneman
Int. J. Neonatal Screen. 2024, 10(1), 18; https://doi.org/10.3390/ijns10010018
“Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation”
by Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D. Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke et al.
Int. J. Neonatal Screen. 2024, 10(1), 6; https://doi.org/10.3390/ijns10010006
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“Selected Papers from 13th ISNS European Regional Meeting—Celebrating 10 Years of IJNS” |
“Advances in Newborn Screening for Lysosomal Disorders: From Laboratory Screening to Diagnosis” |
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