Newborn screening in Karnataka: A scoping review of the landscape

Newborn screening (NBS) using dried blood spot (DBS) analysis is an important public health intervention to detect serious congenital disorders early, and reduce childhood mortality, and lifelong disabilities. While institutionalized for decades in high-income countries, NBS remains limited in low- and middle-income countries such as India. Despite recommendations in national child healthcare policies, few Indian states have adopted NBS. Even Karnataka, a state performing well in maternal and child health indicators and one of the first states to pilot large-scale NBS studies in the 1980s, is yet to implement a statewide program. This study presents a scoping review of the literature on NBS in Karnataka to understand the NBS efforts so far, identify gaps and provide recommendations for the future. A search of English-language peer-reviewed studies and newspaper articles on newborn/neonatal screening in Karnataka (1980-2024) was conducted using PubMed, Google Scholar, and Google News. Nineteen articles were included, charted using the ISNS framework, and thematically analysed. The results highlighted prevalent themes of research such as disease burden, awareness gaps, inconsistent diagnostic thresholds, consanguinity, lack of data, limited outreach programs, and inadequate NBS facilities. Most studies were hospital-based single-or multi-centre studies limited to the population accessing institutional delivery services. Estimation of incidence and prevalence were the most common research objectives. Diseases commonly considered for screening were inborn errors of metabolism (IEM) and congenital hypothyroidism (CH). A significant burden of CH (ranging from 1:1000) and IEMs (ranging from 1:811) were reported, with certain communities at a higher risk due to prevailing marriage practices. Limited evidence on cost suggests that universal newborn screening is economically feasible, with estimated costs of USD 6.45 per child for a single disorder. All studies support the need for NBS in Karnataka, but further health systems research is needed to inform sustainable implementation.