WHO Calls For Urgent Expansion Of Newborn Screening To Prevent Deaths And Lifelong Disability

Every year, nearly eight million babies are born with birth defects worldwide, with congenital conditions now accounting for almost 8% of all deaths among children under the age of five.

Alarmingly, about 90% of children born with serious birth defects live in low- and middle-income countries, like India, where access to newborn screening, timely diagnosis and specialised treatment remains severely inadequate.

Against this backdrop, the World Health Organization (WHO) has called on governments to urgently strengthen and expand newborn screening programmes to save these lives.

In its latest report, Strengthening Capacity for Newborn Screening, Diagnosis and Management of Birth Defects, WHO describes newborn screening as one of the most cost-effective yet underutilised public health interventions for reducing child mortality, preventing lifelong disability and improving quality of life.

The report comes as birth defects are emerging as an increasingly significant cause of child mortality worldwide. While many countries have made substantial progress in reducing deaths due to infectious diseases, malnutrition and vaccine-preventable illnesses, congenital disorders now account for a growing share of under-five deaths, particularly in low- and middle-income countries where health systems remain ill-equipped to provide universal newborn screening and follow-up care.

According to the WHO, many congenital conditions—including congenital hypothyroidism, sickle-cell disease, hearing impairment and several inherited metabolic disorders—can be effectively treated if identified within the first few days or weeks after birth. Early diagnosis can prevent irreversible complications such as intellectual disability, developmental delays, organ damage and premature death.

However, delayed or missed diagnosis remains a major public health challenge. In many countries, children are diagnosed only after permanent damage has occurred, while countless others never receive treatment because screening services are unavailable.

"No child should miss the chance for a healthy future because a congenital condition was not detected early enough," WHO Director-General Dr. Tedros Adhanom Ghebreyesus said.

"Around the world, countries are showing that newborn screening for one or more conditions can save lives, prevent disability and give every newborn the best opportunity to fulfil his or her potential," he added.

The report highlights stark inequalities in newborn screening across countries. While several high-income nations routinely screen every newborn for more than 50 congenital conditions, many low-resource countries are yet to establish even a single nationwide screening programme.

Rather than advocating a one-size-fits-all approach, WHO recommends that countries adopt phased screening programmes based on their disease burden, available resources and health system capacity. Governments should begin by screening for a limited number of high-priority conditions that can be accurately diagnosed and effectively treated before progressively expanding coverage as infrastructure and laboratory capacity improve.

The report notes that congenital disorders are becoming increasingly prominent because of the steady decline in deaths from other childhood illnesses. Between 2000 and 2023, the proportion of under-five deaths attributable to birth defects rose from 1% to 4% in sub-Saharan Africa and from 3% to 11% in South Asia, underscoring the growing need to strengthen newborn screening services.

WHO cites several countries that have successfully integrated newborn screening into routine health services. Argentina now screens almost all newborns for multiple congenital disorders, while Brazil has established a nationwide programme covering several life-threatening conditions.

Egypt has integrated universal screening for congenital hypothyroidism and hearing impairment into its primary healthcare system through an organised newborn care pathway.

India has also expanded newborn screening under its national programme. Over the past three years, more than 28 million children have been screened, leading to the identification of nearly nine lakh children with birth defects. Those diagnosed have been linked to District Early Intervention Centres for diagnostic evaluation, treatment, rehabilitation and long-term follow-up.

The Philippines has transformed a pilot initiative involving just 24 hospitals into a nationwide programme spanning more than 7,000 healthcare facilities. Newborns are now screened for 29 conditions, with diagnosis and treatment supported through the national health system and covered under public health insurance.

Sri Lanka has integrated newborn screening into routine maternal and child health services, with nearly 80% of newborns screened for congenital hypothyroidism. Uganda has introduced government-led screening for sickle-cell disease in high-burden regions, enabling early treatment and continuous care.

WHO has urged governments to integrate newborn screening, diagnosis and treatment into routine health services and universal health coverage programmes. It has stressed that screening alone is insufficient unless backed by accessible laboratory services, specialist medical care, genetic counselling, rehabilitation and long-term follow-up, ensuring that every child diagnosed with a birth defect receives timely and comprehensive care.