Newborn screening (NBS) for congenital hypothyroidism (CH) has been going on for more than fifty years, but we are still learning more about the process and the disease(s). This Special Issue of the International Journal of Neonatal Screening was conceived to focus on key contemporary issues surrounding CH NBS. These key issues include testing algorithms, CH NBS in low- and middle-income countries, premature infants, central hypothyroidism, and uncommon causes of CH.
We are very pleased to have met most of those goals. This Special Issue includes ten articles from Algeria, Australia, Brazil, Canada, Chile, China, Indonesia, Italy, Morocco, and New Zealand. The breadth of the information ranges from a report on the effects of not having CH NBS (Contribution 1) (lest we forget) to advocating for the expansion of CH NBS to include very rare causes (Contribution 2). The papers demonstrate both how far we have come (99.5% of newborns screened in one jurisdiction) and how much more we still have to accomplish (two thirds of patients experienced hypothyroidism after having been made euthyroid) (Contribution 3).
The papers included in this Special Issue touch on the high points of the advancements needed in CH NBS. While not explicitly part of the Special Issue, the most important goal is to increase universal CH NBS from, at present, approximately 30% worldwide coverage to 100% [1] (Contributions 4 and 5). Other major issues include providing good care to those with CH (Contribution 3), reviewing screening cutoffs (Contribution 6), finding the best protocol for re-screening premature babies (Contributions 7 and 8), identifying the causes of the rise in CH (Contribution 9), and discovering the best use of genetic information in CH NBS (Contribution 10).
We look forward to future publications on the efforts undertaken to address these areas.
Conflicts of Interest
The authors declare no conflicts of interest.
List of Contributions
- Djermane, A.; Ouarezki, Y.; Boulesnane, K.; Kherra, S.; Bouferoua, F.; Bessahraoui, M.; Selim, N.; Djahlat, L.; Mohammedi, K.; Bouziane Nedjadi, K.; et al. The Burden of Congenital Hypothyroidism Without Newborn Screening: Clinical and Cognitive Findings from a Multicenter Study in Algeria. Int. J. Neonatal Screen. 2025, 11, 78. https://doi.org/10.3390/ijns11030078.
- Olivieri, A.; Vigone, M.C.; Salerno, M.; Persani, L. Is It Time to Expand Newborn Screening for Congenital Hypothyroidism to Other Rare Thyroid Diseases? Int. J. Neonatal Screen. 2025, 11, 65. https://doi.org/10.3390/ijns11030065.
- Sosova, I.; Archibald, A.; Rosolowsky, E.W.; Rathwell, S.; Christian, S.; Rosolowsky, E.T. Evaluation of the First Three Years of Treatment of Children with Congenital Hypothyroidism Identified through the Alberta Newborn Screening Program. Int. J. Neonatal Screen. 2024, 10, 35. https://doi.org/10.3390/ijns10020035.
- Pulungan, A.B.; Puteri, H.A.; Faizi, M.; Hofman, P.L.; Utari, A.; Chanoine, J.-P. Experiences and Challenges with Congenital Hypothyroidism Newborn Screening in Indonesia: A National Cross-Sectional Survey. Int. J. Neonatal Screen. 2024, 10, 8. https://doi.org/10.3390/ijns10010008.
- Wahoud, F.; Essadki, S.; Zirar, K.; Lamsyah, R.; Hajjaji, W.; Amrani, R. Implementation of Neonatal Screening Program for Congenital Hypothyroidism in Eastern Morocco. Int. J. Neonatal Screen. 2025, 11, 55. https://doi.org/10.3390/ijns11030055.
- Teixeira Palla Braga, N.; Vilela Antunes, J.M.; Colosimo, E.A.; Alves Dias, V.M.; Januário, J.N.; Novato Silva, I. Impact of Lowering TSH Cut-Off on Neonatal Screening for Congenital Hypothyroidism in Minas Gerais, Brazil. Int. J. Neonatal Screen. 2024, 10, 52. https://doi.org/10.3390/ijns10030052.
- Greaves, R.F.; Northfield, J.-A.; Cross, L.; Mawad, N.; Nguyen, T.; Tan, M.; O’Connell, M.A.; Pitt, J. Managing Newborn Screening Repeat Collections for Sick and Preterm Neonates. Int. J. Neonatal Screen. 2024, 10, 63. https://doi.org/10.3390/ijns10030063.
- Brown, A.; Hofman, P.; Webster, D.; Heather, N. Screening Blind Spot: Missing Preterm Infants in the Detection of Congenital Hypothyroidism. Int. J. Neonatal Screen. 2025, 11, 37. https://doi.org/10.3390/ijns11020037.
- Grob, F.; Cavada, G.; Lobo, G.; Valdebenito, S.; Perez, M.V.; Donoso, G. Incidence of Congenital Hypothyroidism Is Increasing in Chile. Int. J. Neonatal Screen. 2025, 11, 58. https://doi.org/10.3390/ijns11030058.
- Ye, L.; Zhang, Y.; Feng, J.; Huang, C.; Wang, X.; Han, L.; Huang, Y.; Zou, H.; Zhu, B.; Miao, J. Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China. Int. J. Neonatal Screen. 2024, 10, 78. https://doi.org/10.3390/ijns10040078.
Reference
- Arrigoni, M.; Zwaveling-Soonawala, N.; LaFranchi, S.H.; van Trotsenburg, A.S.P.; Mooij, C.F. Newborn screening for congenital hypothyroidism: Worldwide coverage 50 years after its start. Eur. Thyroid. J. 2025, 14, e240327. [Google Scholar] [CrossRef] [PubMed]
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