UN warns that an estimated 240,000 newborns die each year within their first month due to birth defects and lack of quality care.
Marking World Birth Defects Day on Tuesday, the World Health Organization says most cases occur in poorer countries and many could be prevented through screening, vaccination and improved antenatal services.
“Congenital disorders can be defined as structural or functional anomalies that occur during intrauterine life,” the agency notes, adding that these conditions “develop prenatally and may be identified before or at birth, or later in life.”
An estimated 6% of babies worldwide are born with a congenital disorder, resulting in hundreds of thousands of associated deaths each year.
Around the world annually, about 295,000 newborns die before reaching four weeks of age due to congenital disorders and related complications.
However, the true number of cases may be significantly higher. Statistics do not often account for terminated pregnancies and stillbirths linked to congenital anomalies.
Approximately half of congenital disorders cannot be traced to a specific cause. “Approximately 50% of congenital disorders cannot be linked to a specific cause,” the data show.
Known causes include “single gene defects, chromosomal disorders, multifactorial inheritance, environmental teratogens and micronutrient deficiencies.”
Genetic causes may be inherited or result from mutations. Consanguinity, when parents are related by blood, increases the risk of congenital anomalies and “nearly doubles the risk of neonatal and early childhood death, intellectual disability and other health conditions.”
Advanced maternal age also raises the likelihood of chromosomal abnormalities, including Down syndrome.
Certain infections are known to increase rates of congenital disorders, including Zika virus, syphilis and rubella.
Other anomalies such as cystic fibrosis and haemophilia C are more prevalent in specific ethnic communities.
The burden falls disproportionately on poorer countries. The vast majority, 94%, of congenital disorders occur in low- and middle-income nations.
Contributing factors include lack of screening and prenatal care, insufficient access to nutritious foods for pregnant women, exposure to alcohol or tobacco, and increased contact with infection or environmental contaminants.
Some congenital disorders can be prevented. Screening, vaccination, fortification of staple foods with nutrients such as folic acid and iodine, and adequate antenatal care are among the recommended measures.
Treatment options exist for several conditions. Surgical and non-surgical interventions can address cleft lip and palate, clubfoot and hernias.
Other disorders, including heart defects, neural tube defects and Down syndrome, can have life-long impacts.
More than half of disability-adjusted life years lost annually due to congenital disorders could be prevented with prompt surgery or treatment.
For example, around 100,000 babies are born each year with clubfoot, a condition that can be easily corrected. Left untreated, however, it may cause severe and permanent disability.
Beyond health consequences, congenital disorders often result in social stigma and discrimination.
Families may face embarrassment, isolation and reduced community interaction. The economic burden is also significant, with long-term disability affecting individuals, families, healthcare systems and societies.
These impacts are especially severe in low- and middle-income countries, where limited access to treatment facilities and support services can make living with impairment more challenging.
The agency’s message on World Birth Defects Day reaffirms a call for strengthened health systems, improved maternal care and expanded access to preventive services to reduce avoidable deaths and life-long disabilities linked to congenital disorders.
