Newborn screening for congenital hypothyroidism: worldwide coverage 50 years after its start

Marta Arrigoni1,2, Nitash Zwaveling-Soonawala1,3, Stephen H LaFranchi4

  • 1Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam and Vrije Universiteit, European Reference Network on Rare Endocrine Conditions (Endo-ERN) Amsterdam, The Netherlands.

European Thyroid Journal
|January 15, 2025
PubMed

Insights

Newborn screening for congenital hypothyroidism (CH) has expanded, but 70% of infants globally still lack access, particularly in Africa and Asia. Global iodine sufficiency has improved, yet widespread CH screening remains a challenge.

Area of Science:

  • Public Health
  • Pediatrics
  • Endocrinology

Background:

  • Congenital hypothyroidism (CH) is a leading preventable cause of neurodevelopmental delay in children.
  • Newborn screening (NBS) programs for CH are crucial public health strategies, established in many countries since 1974.
  • Despite progress, global NBS coverage for CH remained low in 2014, screening only 29.3% of newborns.

Purpose of the Study:

  • To evaluate the implementation and coverage of new NBS programs for CH over the last decade.
  • To assess current screening methods and coverage rates for CH globally.
  • To provide an updated assessment of worldwide iodine status.

Main Methods:

  • A comprehensive literature review was conducted using PubMed, Embase, and Google searches.
  • Data on NBS programs for CH and their respective coverage rates were systematically collected for each country.
  • Information on global iodine status was also compiled and analyzed.

Main Results:

  • Global NBS coverage for CH has slightly increased to 29.6%.
  • Efficient programs with optimal coverage exist in Europe, North America, Oceania, China, Japan, and Israel.
  • Significant improvements in coverage are noted in Asia and South America, while Africa largely lacks widespread programs. Global iodine sufficiency has improved, with 149 countries achieving adequate levels by 2023.

Conclusions:

  • While many countries have launched or expanded NBS programs for CH, approximately 70% of newborns worldwide still lack access.
  • The majority of unscreened infants are concentrated in African and Asian countries.
  • Continued efforts are needed to achieve universal NBS for CH, especially in underserved regions.
Abstract