Establishing a Newborn Screening Programme: A Success Story from a Low-Resource Setting.

Abstract

The purpose of this communication was to assess the clinical effectiveness of a newborn screening (NBS) programme for congenital hypothyroidism (CH) in a tertiary care centre. This cross-sectional study was conducted from January 2019 to December 2023. Thyroid-stimulating hormone (TSH) on dried blood spot (DBS) specimens collected after 24 hours of birth with >10 mIU/L was further confirmed by testing serum TSH and FT4, and CH cases were referred to a paediatric endocrinologist for management. During the study period, coverage of NBS was tracked. Over a four-year period, 30,402 newborns were screened, with 96.2% coverage (total births-31610). Positive screening results (TSH>10 mIU/L) were found in 1.9% of neonates (n = 586), with confirmatory tests performed in 63.13% (n = 370) of these cases. CH was confirmed in 27 cases, with an incidence of 1:1126. This study demonstrated that NBS for CH was successfully implemented and highly effective. However, there is a need to further improve recall rates. Key Words: Congenital hypothyroidism, Dried blood spot testing, Newborn screening, Clinical efficacy.