The World Health Organisation (WHO) has called on countries to expand newborn screening programmes for birth defects, warning that millions of children continue to miss lifesaving diagnosis and treatment due to limited access to early detection services.
The call was made in a new WHO report titled, “Strengthening Capacity for Newborn Screening, Diagnosis and Management of Birth Defects,” which highlights newborn screening as a critical intervention for improving child survival and reducing lifelong disabilities.
According to the report, an estimated eight million babies are born with a birth defect every year worldwide, while birth defects account for nearly eight per cent of all deaths among children under the age of five.
The organisation 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 inadequate.
WHO Director-General, Dr. Tedros Adhanom Ghebreyesus, said no child should be denied the opportunity for a healthy future because a congenital condition was not detected early enough.
“No child should miss the chance for a healthy future because a congenital condition was not detected early enough. 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 his or her potential,” he said.
The report identified several conditions that can be effectively treated when detected shortly after birth, including congenital hypothyroidism, sickle-cell disease, hearing impairment and certain metabolic disorders. However, WHO noted that many affected children are either diagnosed too late or never receive treatment.
It further revealed significant disparities in newborn screening coverage across countries. While some nations routinely screen all newborns for more than 50 conditions, others lack the capacity to conduct screening for even a single condition.
WHO encouraged countries to begin with screening for priority conditions based on national health needs and gradually expand services as health system capacity improves.
The report also highlighted a growing contribution of birth defects to under-five mortality. Between 2000 and 2023, the proportion of under-five deaths linked to birth defects increased from one per cent to four per cent in sub-Saharan Africa and from three per cent to 11 per cent in South Asia.
According to WHO, the trend partly reflects progress made in reducing deaths from infectious diseases and other preventable causes, making congenital conditions a more prominent contributor to child mortality.
WHO urged governments to integrate newborn screening, diagnosis and treatment into routine health services and universal health coverage programmes. The agency stressed that countries should prioritize conditions that can be effectively detected and managed within their healthcare systems.
The report was informed by a global WHO consultation involving government representatives, clinicians, researchers, civil society organizations, professional associations and families affected by birth defects, aimed at identifying strategies to strengthen newborn screening, diagnosis and long-term care worldwide.
