Strengthening Newborn Screening, Diagnosis and Management of Birth Defects in Low- and Middle-Income Countries: A Priority for WHO Member States

As infectious causes of child mortality decline, birth defects represent a growing relative proportion of neonatal and under-five deaths (as well as unmeasured morbidity) in low- and middle-income countries (LMICs), underscoring the need to integrate their prevention, detection and care into child health agendas. In response to World Health Assembly resolution WHA77.5, the World Health Organization (WHO) convened global consultations with LMIC programme leaders, experts, academics, civil society, affected persons and families to develop a framework for integrating newborn screening, diagnosis and management of birth defects into national health systems. This communication summarizes key lessons from country experience and sets out the core principles for implementation captured in the framework: start with one or a few feasible, high-impact conditions; link screening to diagnosis, management and long-term follow-up; assess health-system readiness before scale-up; secure sustainable financing; strengthen data systems; and provide family-centred support. The recent WHO report ‘Strengthening Newborn Screening, Diagnosis and Management of Birth Defects’ focused on LMICs and offers a pragmatic pathway for countries to expand newborn screening equitably while building the services needed to improve survival, functioning and quality of life for children with congenital conditions.