Newborn Screening for Congenital Hypothyroidism
- ISBN 978-3-7258-5593-3 (Hardback)
- ISBN 978-3-7258-5594-0 (PDF)
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This is a Reprint of the Special Issue Newborn Screening for Congenital Hypothyroidism that was published in
Newborn screening (NBS) for congenital hypothyroidism (CH) began in the 1970s and has prevented countless cases of intellectual disability through early detection and treatment. Yet, nearly 70% of newborns worldwide still lack access to CH screening. Despite over fifty years of experience, important questions remain about screening algorithms, genetic causes, and optimal follow-up care. This Special Issue reprint of the International Journal of Neonatal Screening brings together contributions from ten countries, addressing topics such as testing strategies, screening in low- and middle-income countries, premature infants, and rare or central forms of CH. Together, these papers highlight global progress in CH screening and the continuing need to expand access and refine practice to ensure every newborn benefits from early diagnosis and treatment.