International Neonatal Screening Day and Top 10 Most Viewed Papers on Neonatal Screening in International Journal of Neonatal Screening

Since 2021, International Neonatal Screening Day has been observed each year on 28 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 policy makers 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 2023 that showcase the latest advances and insights in this field. We hope that you enjoy reading them.

1. “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
Full text available online: https://www.mdpi.com/2409-515X/10/2/38

2. “Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm”
by Giancarlo la Marca, Rachel. S. Carling, Stuart. J. Moat, Raquel Yahyaoui, Enzo Ranieri, James. R. Bonham and Peter. C. J. I. Schielen
Int. J. Neonatal Screen. 2023, 9(1), 15; https://doi.org/10.3390/ijns9010015
Full text available online: https://www.mdpi.com/2409-515X/9/1/15

3. “Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018”
by Sikha Singh, Jelili Ojodu, Alex R. Kemper, Wendy K. K. Lam and Scott D. Grosse
Int. J. Neonatal Screen. 2023, 9(2), 20; https://doi.org/10.3390/ijns9020020
Full text available online: https://www.mdpi.com/2409-515X/9/2/20

4. “Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations”
by Jovanka R. King, Kalle Grill and Lennart Hammarström
Int. J. Neonatal Screen. 2023, 9(2), 22; https://doi.org/10.3390/ijns9020022
Full text available online: https://www.mdpi.com/2409-515X/9/2/22

5. “Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures”
by Birgit Odenwald, Inken Brockow, Marianne Hanauer, Anja Lüders and Uta Nennstiel
Int. J. Neonatal Screen. 2023, 9(3), 35; https://doi.org/10.3390/ijns9030035
Full text available online: https://www.mdpi.com/2409-515X/9/3/35

6. “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
Full text available online: https://www.mdpi.com/2409-515X/10/1/6

7. “The Psychosocial Impact of Congenital Cytomegalovirus on Caregivers and Families: Lived Experiences and Review of the Literature”
by Michelle P. Zappas, Amanda Devereaux and Megan H. Pesch
Int. J. Neonatal Screen. 2023, 9(2), 30; https://doi.org/10.3390/ijns9020030
Full text available online: https://www.mdpi.com/2409-515X/9/2/30

8. “Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway”
by Trine Tangeraas, Ulf W. Ljungblad, Elma Lutvica, Erle Kristensen, Alex D. Rowe, Anne-Lise Bjørke-Monsen, Terje Rootwelt-Revheim, Ingjerd Sæves and Rolf D. Pettersen
Int. J. Neonatal Screen. 2023, 9(1), 3; https://doi.org/10.3390/ijns9010003
Full text available online: https://www.mdpi.com/2409-515X/9/1/3

9. “Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France”
by Charles R. Lefèvre, François Labarthe, Diane Dufour, Caroline Moreau, Marie Faoucher, Paul Rollier, Jean-Baptiste Arnoux, Marine Tardieu, Léna Damaj, Claude Bendavid et al.
Int. J. Neonatal Screen. 2023, 9(1), 6; https://doi.org/10.3390/ijns9010006
Full text available online: https://www.mdpi.com/2409-515X/9/1/6

10. “Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements”
by Dietrich Matern, Khaja Basheeruddin, Tracy L. Klug, Gwendolyn McKee, Patricia U. Edge, Patricia L. Hall, Joanne Kurtzberg and Joseph J. Orsini
Int. J. Neonatal Screen. 2024, 10(1), 10; https://doi.org/10.3390/ijns10010010
Full text available online: https://www.mdpi.com/2409-515X/10/1/10