ESPE Yearbook of Paediatric Endocrinology

Curr Opin Pediatr 2018, 30:734–739. DOI: 10.1097/MOP.0000000000000683

• Congenital hypothyroidism is the most cost-effective screened condition.

• Screening for hemoglobinopathies and glucose-6-dehydrogenase deficiency can be cost-effective in sub-Saharan Africa, India and some parts of Asia where there is a high incidence of these diseases.

• Screening for metabolic conditions should be considered in areas of high consanguinity.

• Review article.

This article provides an overview of the various developing newborn screening (NBS) programs around the world. Slow progress is noted in most continents, with low priority given by health authorities for the funding of nationwide programs in low- and middle-income countries. On the positive side, an increasing number of programs are looking for synergies between various diseases to be screened for. At the present time, the NBS programs are being developed according to protocols used in high-income countries. However, specific issues in low- and middle-income countries such as a high percentage of home births, the absence of reliable transportation of the samples and the lack of reference laboratories make the development of point of care testing (at the bedside) techniques desirables. This research is ongoing (including for congenital hypothyroidism) but is not yet available.