WHO Advocates for Expanded Newborn Screening to Enhance Early Detection of Birth Defects

The World Health Organization (WHO) is calling on nations to broaden their newborn screening programs for birth defects. This initiative underscores the potential of early detection and treatment to save lives and reduce lifelong disabilities in countless children.

According to the newly released WHO report, Strengthening Capacity for Newborn Screening, Diagnosis and Management of Birth Defects, screening newborns presents a vital opportunity to advance child survival rates. Early identification of various conditions, such as congenital hypothyroidism, sickle-cell disease, hearing impairment, and certain metabolic disorders, can vastly improve treatment outcomes.

Current Global Landscape

Every year, an estimated 8 million babies are born with birth defects, which account for nearly 8% of all deaths among children under five. Alarmingly, about 90% of these children are in low- and middle-income countries, where screening and subsequent care are often inaccessible.

Dr. Tedros Adhanom Ghebreyesus, WHO Director-General, stated, “No child should lose the chance for a healthy future due to a congenital condition that wasn’t detected early enough.” He highlighted that various countries have successfully implemented newborn screening for multiple conditions, thereby saving lives and preventing disabilities.

Disparities and Progress

There remains a stark contrast between countries in terms of screening capabilities. Some nations screen for over 50 conditions, while others lack the resources to screen for even one. WHO recommends that each country initiate newborn screening with a priority condition and gradually expand as capacities grow.

The report indicates that birth defects are increasingly responsible for under-five mortality in several regions. From 2000 to 2023, the percentage of child deaths due to birth defects rose from 1% to 4% in sub-Saharan Africa and from 3% to 11% in South Asia, partly due to successful reductions in deaths from infectious and preventable diseases.

Global Initiatives and Success Stories

  • Argentina: Nearly universal newborn screening coverage has been achieved.
  • Brazil: Nationwide screening for multiple life-threatening conditions has expanded.
  • Egypt: The ‘newborn care pathway’ incorporates universal screening for hearing issues and congenital hypothyroidism into primary health services.
  • India: Over 28 million children screened in three years, identifying approximately 900,000 with birth defects, leading to care and rehabilitation services.
  • Philippines: Originally a pilot in 24 hospitals, the program now screens for 29 conditions across more than 7,000 facilities, with national health coverage.
  • Sri Lanka: Routine care now includes screening for visible birth defects and congenital hypothyroidism, covering around 80% of newborns.
  • Uganda: A state-run program for sickle-cell disease in high-risk areas offers early detection and continuous care.

WHO is advocating for the integration of newborn screening, diagnosis, and treatment into routine health services and universal health coverage, starting with priority conditions that can be effectively managed within each country’s healthcare system.

The report is informed by a global WHO consultation with government representatives, experts, clinicians, and affected families to prioritize the enhancement of newborn screening, diagnosis, and long-term care.

About WHO

The World Health Organization is dedicated to promoting the health and well-being of all people, with a focus on scientific evidence. As the leading United Nations agency for health, WHO coordinates global efforts to combat health emergencies, prevent diseases, and improve access to healthcare and medicines.

The theme for World Health Day 2026, “Together for Health. Stand with Science,” emphasizes the importance of science as the foundation for global health and well-being.

Note: For medical advice regarding newborn screening and related healthcare, always consult a qualified healthcare professional.