The World Health Organisation (WHO) has called on countries to expand newborn screening programmes to improve the early detection and treatment of birth defects, stressing that timely intervention can save lives and reduce lifelong disabilities among millions of children.
In a new report titled Strengthening Capacity for Newborn Screening, Diagnosis and Management of Birth Defects, WHO described newborn screening as a critical tool for accelerating child survival and improving health outcomes.
The report, according to WHO, was informed by a global consultation involving government officials, health experts, researchers, clinicians, civil society organisations and families affected by birth defects.
Disclosing this on its official X on Tuesday, WHO said about eight million babies are born with birth defects every year, with such conditions accounting for nearly eight per cent of all deaths among children under the age of five.
It also noted that about 90 per cent of children born with serious birth defects live in low- and middle-income countries, where access to screening, diagnosis and treatment remains limited.
According to the global health body, several conditions, including congenital hypothyroidism, sickle-cell disease, hearing impairment and some metabolic disorders, can be successfully treated if detected shortly after birth, but millions of children are diagnosed too late or never receive treatment.
“Many conditions can be successfully treated if identified early after birth. These include congenital hypothyroidism, sickle-cell disease, hearing impairment and some metabolic disorders. Yet millions of children are still diagnosed too late or never receive treatment at all,” WHO said.
WHO Director-General, Dr. Tedros Ghebreyesus, said no child should be denied a healthy future because a congenital condition was not detected early enough.
He noted that countries implementing newborn screening programmes have demonstrated that early detection can save lives, prevent disability and improve children’s long-term prospects.
The report also revealed significant disparities in screening coverage worldwide, with some countries testing newborns for more than 50 conditions while others lack screening programmes entirely.
WHO urged all countries to begin newborn screening with priority conditions relevant to their local health needs and gradually expand coverage as capacity improves.
“Around the world, countries are showing that newborn screening for one or more conditions can save lives, prevent disability, and give a newborn the best opportunity to fulfil her or his potential,” it said.
The report further highlighted a growing contribution of birth defects to under-five mortality, noting that in sub-Saharan Africa, the proportion of under-five deaths linked to birth defects rose from one per cent in 2000 to four per cent in 2023, while in South Asia the figure increased from three per cent to 11 per cent over the same period.
The global health body attributed the trend partly to progress made in reducing deaths from infectious diseases and other preventable causes.
The report, however, showcased successful newborn screening programmes in several countries, including Argentina, Brazil, Egypt, India, the Philippines, Sri Lanka and Uganda.
According to the report, more than 28 million children in India have been screened over three years, leading to the identification of about 900,000 children with birth defects who were subsequently linked to treatment and rehabilitation services.
Uganda’s state-led sickle-cell screening programme was also cited for helping identify affected infants early and providing lifesaving treatment and long-term care.
WHO called on governments to integrate newborn screening, diagnosis and treatment into routine healthcare services and universal health coverage programmes, focusing initially on conditions that can be effectively detected and managed within existing health systems.
