The World Health Organization (WHO) is calling for an expansion of newborn screening for birth defects, highlighting how early detection and treatment can save lives and reduce lifelong disability for millions of children.
A new WHO report, Strengthening capacity for newborn screening, diagnosis and management of birth defects, identifies newborn screening as an important opportunity to accelerate progress in child survival.
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.
Worldwide, an estimated eight million babies are born with a birth defect each year, and birth defects now account for almost 8% of all deaths among children under five. An estimated 90% of children born with serious birth defects live in low- and middle-income countries, where access to screening, diagnosis and treatment remains limited.
"No child should miss the chance for a healthy future because a congenital condition was not detected early enough," said Dr Tedros Adhanom Ghebreyesus, WHO Director-General. "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.”
The gap between countries is stark: some countries screen all newborns for more than 50 conditions, while others are unable to screen for any. WHO encourages every country to begin newborn screening - starting with a priority condition in the country and progressively expanding as capacity grows.
The report shows that birth defects account for a growing proportion of under-five deaths in many regions. Between 2000 and 2023, the proportion of under-five deaths attributable to birth defects increased from 1% to 4% in sub-Saharan Africa and from 3% to 11% in South Asia. Part of this shift reflects genuine progress in the reduction of deaths from infectious and other preventable causes.
The WHO report aims to support ministries of health, especially in low- and middle-income countries, to prioritise conditions for newborn screening depending on the country context.
The report was informed by a global WHO consultation bringing together government representatives, technical experts, clinicians, researchers, professional associations, civil society organisations and families affected by birth defects to identify priorities for strengthening newborn screening, diagnosis and long-term care.