WHO urges expansion of newborn screening to curb child mortality from birth defects

The World Health Organization has called on countries to expand newborn screening for birth defects, emphasising that early detection and treatment are critical for saving lives and reducing lifelong disability. In a new report titled Strengthening capacity for newborn screening, diagnosis and management of birth defects, the agency identifies screening as a vital opportunity to accelerate progress in child survival.

Globally, an estimated 8 million babies are born with a birth defect each year, accounting for nearly 8 per cent of all deaths among children under five. The burden is disproportionately high in low- and middle-income countries, where approximately 90 per cent of children born with serious birth defects live. In these regions, access to screening, diagnosis and treatment remains significantly limited compared to high-income nations.

The disparity in global health infrastructure is stark. While some countries screen all newborns for more than 50 conditions, others are unable to screen for any. The WHO encourages every country to begin newborn screening, starting with a priority condition based on local context and progressively expanding as capacity grows. This approach aims to support ministries of health, particularly in resource-constrained settings, in prioritising conditions that can be effectively detected and managed.

Data indicates a shifting landscape in child mortality. Between 2000 and 2023, the proportion of under-five deaths attributable to birth defects increased from 1 per cent to 4 per cent in sub-Saharan Africa and from 3 per cent to 11 per cent in South Asia. The WHO notes that this rise partly reflects genuine progress in reducing deaths from infectious and other preventable causes, making birth defects a relatively larger share of remaining child mortality.

The report highlights several national programmes that demonstrate scalable models for integration into routine health services. India’s national programme has screened more than 28 million children over three years, identifying approximately 900,000 children with a birth defect and connecting them with long-term care. The Philippines now screens for 29 conditions through more than 7,000 facilities, with screening covered by national health insurance and mandated by law.

Other nations cited for their progress include Argentina, which has increased coverage to nearly universal levels, and Brazil, which has expanded nationwide screening for multiple life-threatening conditions. Egypt has integrated universal screening for hearing impairment and congenital hypothyroidism into primary health care, while Sri Lanka screens around 80 per cent of newborns for congenital hypothyroidism. Uganda has implemented a state-led programme for sickle-cell disease in high-burden areas.

Dr Tedros Adhanom Ghebreyesus, WHO Director-General, stated that no child should miss the chance for a healthy future because a congenital condition was not detected early enough. The agency urges governments to integrate screening, diagnosis and treatment into routine health services and universal health coverage programmes, beginning with conditions that are country priorities. The report was informed by a global consultation involving government representatives, experts, clinicians and civil society.