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Making Newborn Screening Work in Low- and Middle-Income Countries: From Global Commitment to Sustainable Action-The
Bradford L Therrell1,2, Carmencita D Padilla3,4
1Department of Pediatrics, Long Medical School, University of Texas at San Antonio, San Antonio, TX 78229, USA.
Abstract:
Newborn screening (NBS) is an established public health intervention capable of preventing death, disability, and lifelong disease through early identification and treatment of affected newborns. However, equitable access to NBS remains limited, particularly in low- and middle-income countries (LMICs), where most serious birth defects occur. The 2024 World Health Assembly resolution WHA77.5 and the newly published World Health Organization (WHO) newborn screening framework provide an important global mandate and practical roadmap for expanding NBS, diagnosis, treatment, and long-term care. The framework reviewed by De Costa et al. emphasizes that NBS is a continuum of care encompassing screening, diagnostic confirmation, treatment, follow-up, rehabilitation, developmental services, and family support. Successful implementation requires quality assurance across the entire pathway, including specimen collection, laboratory testing, reporting, tracking, diagnostic services, and treatment, with external proficiency testing where appropriate. Programs should begin with condition(s) for which disease burden, effective treatment, screening feasibility, and health system capacity are aligned, and should expand progressively as capacity develops. Sustainable financing, trained personnel, information systems, referral networks, and national government stewardship are essential. Rather than replicating high-income-country models, LMICs should develop locally appropriate, scalable programs based on quality, equity, effectiveness, and continuity of care. The challenge now is to translate the WHO framework into sustainable national action.
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