The World Health Organization (WHO) has urged countries to expand newborn screening programmes for birth defects, stressing that early detection and timely treatment can save lives and prevent lifelong disability in millions of children worldwide.
According to WHO, many conditions can be successfully treated when detected early after birth, including congenital hypothyroidism, sickle-cell disease, hearing impairment and certain metabolic disorders. However, millions of children continue to be diagnosed too late or remain untreated.
It is estimated that around 8 million babies are born with a birth defect each year worldwide, and birth defects now account for almost 8 per cent of all deaths among children under five.
WHO noted that approximately 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.
“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,” he added.
In a new report, WHO highlighted major disparities in access to screening globally. While some countries screen all newborns for more than 50 conditions, others still lack any newborn screening programmes.
The report also found that birth defects are accounting for a growing share of child deaths in many regions. Between 2000 and 2023, the proportion of under-five deaths linked to birth defects rose from 1 per cent to 4 per cent in sub-Saharan Africa and from 3 per cent to 11 per cent in South Asia.
To support implementation of newborn screening programmes, the report provides guidance for health ministries—particularly in low- and middle-income countries—on selecting priority conditions depending on the country context.
It also highlights successful examples of large-scale newborn screening programmes already integrated into routine health services across Africa, Asia and the Americas.
In India, the national programme 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 centres.
WHO is urging governments to integrate newborn screening, diagnosis and treatment into routine health services and universal health coverage programmes, starting 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 involving 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.
