Strengthening capacity for newborn screening, diagnosis and management of birth defects: WHO technical consultation on planning and implementing services integrated into national health systems in low- and middle-income countries

Overview

This report summarizes a WHO technical consultation focused on strengthening newborn screening, diagnosis and management of birth defects within national health systems in low- and middle-income countries (LMICs). Conducted through a series of global consultations between 2024 and 2025, the initiative examined state-led programmes and operational models from front-runner LMICs and selected upper-middle-income countries. The report addresses the growing contribution of birth defects to child mortality and disability as infectious causes of death decline, emphasizing the need for LMICs to integrate newborn screening, diagnosis, management and long-term care for one or a few priority conditions into routine health services and universal health coverage.

Drawing on country experiences from all WHO regions, but particularly from countries in the global south, expert discussions involving ministries of health, academic and clinical stakeholders, non-governmental organisations, and perspectives from affected individuals and families, the report presents practical approaches for selecting priority conditions for newborn screening in LMICs, preparing health systems, strengthening referral pathways, establishing follow-up and rehabilitation services, developing data systems and financing programmes sustainably. It highlights the importance of linking screening to diagnosis, treatment and long-term support within a continuum of care. The document also proposes an operational framework to support programme managers and ministries of health in assessing health system preparedness and planning equitable, scalable and people-centred services for children with birth defects in resource-constrained settings.