Universal Newborn Screening for Congenital Hypothyroidism at a District-Level Tertiary Care Center in South India: A Prospective Observational Study

Abstract

Background: Congenital hypothyroidism (CH) is one of the main preventable conditions causing intellectual disabilities and delayed neurodevelopment in childhood. Although screening programs are established in several countries, district-level epidemiological data from India remain limited.

Subjects and Methods: This prospective observational study was conducted between September 2022 and February 2024 at a district-level tertiary care teaching hospital in South India. A total of 1551 consecutive live-born neonates underwent screening using heel-prick dried blood spot thyroid-stimulating hormone (TSH) estimation performed between 48 and 72 hours of life. Neonates with screening TSH values greater than 20 mIU/L were recalled for confirmatory venous thyroid function testing. Infants diagnosed with congenital hypothyroidism received levothyroxine therapy and were followed for six months.

Results: Among 1551 screened neonates, 18 infants (1.16%) had elevated screening TSH values and underwent confirmatory evaluation. Congenital hypothyroidism was confirmed in three infants, corresponding to an incidence of 0.19% (1:517 live births or 1.9 per 1000 live births; 95% confidence interval 0.4–5.6 per 1000 live births). All diagnosed infants started treatment within the first two weeks of life. Thyroid function was stable on medication, and there were no problems with development according to chronological age at six months' follow-up.

Conclusions: The results show that universal newborn screening resulted in a higher prevalence of CH among others when compared with a number of earlier regional reports. Early detection made it possible to start treatment promptly even without clinical symptoms. Thus, there is a possibility to expand newborn screening programs for all districts and regions.