A STUDENT PERSPECTIVE: NEWBORN SCREENING FOR CONGENITAL HYPOTHYROIDISM (CH): CASE SCENARIOS FOR PREVENTION OF DISABILITY

Abstract

Newborn screening (NBS) is a preventive public health program aimed at identifying congenital metabolic disorders soon after birth, before clinical symptoms appear. The Congenital hypothyroidism (CH) the most common NBS disorder used globally to prevent childhood disability. The CH is the significant preventable cause of intellectual disability worldwide, affecting approximately 1 in 2,000–3,000 live births. Thyroid hormone is essential for normal brain development. Delayed diagnosis and treatment of CH can lead to irreversible neurodevelopmental impairment. The CH also fulfils NBS criteria and hence it is considered as the ideal NBS candidate. The efficiency of NBS program with CH has been proved in many countries. However, India does not have NBS in its mandatory health policy and the risk of childhood disabilities/death therefore is higher due to CH. The CH cases encountered by the student during her internship are reported here to emphasize the significance of NBS in India to prevent childhood disabilities & the need of saving babies across the country due to CH, thereby help to reduce the national health burden. The case scenarios were developed as composite evidence-based examples from the published literature. The aim is to summarize current evidence on newborn screening (NBS) strategies for CH and their impact on neurodevelopmental outcomes. It also highlights clinical decision-making through three case scenarios illustrating the diverse presentations and outcomes of CH. The methodology used was a narrative literature review using PubMed/MEDLINE, EMBASE and the Cochrane Library. Publications from 1974 to 2025 were reviewed, with emphasis on systematic reviews including major guidelines, like the American Academy of Pediatrics (AAP, 2023) and European Society for Paediatric Endocrinology (ESPE, 2014). It is evident that despite 50 years of established NBS programs, only 29.6% of global births were covered by NBS for CH by 2024. The case scenarios further demonstrate that optimal outcomes depends on early detection within first 14 days of life, confirmatory testing, timely recall systems, appropriate therapy, consistent follow-up, and recognition of high-risk groups such as preterm infants. It is concluded that universal newborn screening for CH is a critical ethical and public health priority, as early diagnosis and treatment substantially reduce preventable intellectual disability and improve long term neurodevelopmental outcomes.