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International Journal of Neonatal Screening· 2026Q1

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

Ayesha De Costa, Pablo Duran, R. K. Khanna, Janet Kayita et al.

Short summary

WHO has developed a framework to integrate birth defect screening, diagnosis, and management into national health systems in low- and middle-income countries (LMICs), responding to increasing relative mortality from these conditions.

AI-generated from the title and abstract; the full text is not read.

Key points

  • Birth defects are an increasing cause of mortality and morbidity in LMICs as infectious diseases decline.
  • WHO developed a framework for integrating screening, diagnosis, and management of birth defects into national health systems.
  • Key principles include starting with feasible conditions, linking screening to care, assessing readiness, ensuring funding, strengthening data, and supporting families.
  • The framework offers a pragmatic pathway for equitable expansion of newborn screening and improved outcomes for children.

AI-generated from the title and abstract; the full text is not read.

Abstract

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.

The authors' abstract, as published at the source. International Journal of Neonatal Screening, 2026 · DOI ↗

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Field: Pediatrics, Perinatology and Child Health

Pediatrics, Perinatology and Child HealthMedicine