WHO calls for increased newborn screening to improve early detection and care of birth defects

The World Health Organization (WHO) is today calling on countries to expand newborn screening for birth defects, stressing that 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 treatment of birth defectsidentifies newborn screening as an important opportunity to accelerate progress in child survival.

Many conditions can be successfully treated if detected 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 not treated at all.

Worldwide, an estimated 8 million babies are born each year with a birth defect, and the birth defect now accounts for nearly 8% of all deaths among children under the age of 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 out on a chance for a healthy future because a congenital condition was not detected early enough,” said Dr. Tedros Adhanom Ghebreyesus, WHO Director-General. “Countries around the world are showing that newborn screening for one or more conditions can save lives, prevent disability and give the newborn the best chance to fulfill its potential.” The gap between countries is huge: some countries screen all newborns for more than 50 conditions, while others can screen none. WHO encourages every country to start newborn screening – starting with a priority state in the country and gradually expanding as capacity grows.

The report shows that birth defects account for an increasing proportion of deaths in children under the age of five 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 reducing 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 newborn screening requirements depending on the country’s context.

It shows countries across Africa, Asia and the Americas that are already demonstrating successful integration of comprehensive newborn screening programs into routine health services:

Argentina: Increased newborn screening coverage to near universal levels.

Brazil: Expanded national screening for multiple life-threatening conditions.

Egypt: ‘Newborn Care Pathway’ integrates universal newborn screening for hearing and congenital hypothyroidism into its primary care services.

India: The national program screened more than 28 million children over three years, identifying approximately 900,000 children with birth defects and linking them to diagnosis, treatment and support, including long-term care and rehabilitation services through district early intervention centres.

Philippines: A program that began as a pilot in 24 hospitals now screens newborns for 29 conditions in more than 7,000 facilities nationwide. All conditions that are checked for have diagnostic and treatment pathways within the national health system. Newborn screening is covered by the national health insurance and is prescribed by law.

Sri Lanka: Newborn screening is integrated into routine care and includes visible birth defects and congenital hypothyroidism. About 80% of newborns are now screened for congenital hypothyroidism.

Uganda: The country’s sickle cell program in high-burden areas identifies affected infants early and provides them with life-saving treatment and long-term care.

WHO urges governments to integrate newborn screening, diagnosis and treatment into routine health services and universal health care programmes, starting with national priority conditions that can be effectively detected and feasibly controlled within their health system.

The report emerged from a WHO global consultation that brought 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.

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