The World Health Organization (WHO) today calls on countries to expand 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 8 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 prioritize conditions for newborn screening depending on the country context.
It showcases countries across Africa, Asia and the Americas that are already demonstrating the successful integration of large-scale newborn screening programs into routine health services:
– Argentina: Increased newborn screening coverage to nearly universal levels.
– Brazil: Expanded nationwide screening for multiple life-threatening conditions.
– Egypt: The ‘newborn care pathway’ integrates universal newborn screening for hearing and congenital hypothyroidism into its primary health care services.
– India: The national program has screened more than 28 million children over three years, identifying approximately 900,000 children with a birth defect and connecting them with diagnosis, treatment and support, including long term care and rehabilitation services through district early intervention centers.
– Philippines: A program that began as a pilot in 24 hospitals now screens newborns for 29 conditions through more than 7000 facilities nationwide. All conditions screened for have diagnostic and management pathways within the national health system. Newborn screening is covered by national health insurance and mandated by law.
– Sri Lanka: Newborn screening is integrated into routine care and includes visible birth defects and congenital hypothyroidism. Around 80% of newborns are now screened for congenital hypothyroidism.
– Uganda: A state-led program for sickle-cell disease in high burden areas identifies affected infants early and provides them with lifesaving treatment and long-term follow-up care.
WHO is urging governments to integrate newborn screening, diagnosis and treatment into routine health services and universal health coverage programs, beginning with conditions that are country priorities, and that can be effectively detected and feasibly managed within their health system.
The report was informed by a global WHO consultation bringing together government representatives, technical experts, clinicians, researchers, professional associations, civil society organizations and families affected by birth defects to identify priorities for strengthening newborn screening, diagnosis and long-term care.
