Global and regional burden of congenital birth defects, 1990–2021: persistent healthcare disparities and emerging challenges from non-fatal health burden

Introduction: Approximately 3%-6% of infants were born with congenital birth defects worldwide every year, which ranked as the third leading cause of deaths among the population under 20 years of age in 2021. Methods: By adopting the methodology from Global Burden of Disease Study 2021, we systematically analysed the burden and temporal trend of congenital birth defects at the global and regional levels. Correlations between these metrics and Healthcare Access and Quality (HAQ) Index were investigated by the Spearman correlation analyses. Results: In 2021, there were 7.2 million cases of congenital birth defects and 0.53 million associated deaths. The highest incidence rates were observed in Central Asia, Central Sub-Saharan Africa and Western Sub-Saharan Africa, while the highest mortality rates were reported in Oceania, Western Sub-Saharan Africa and the Caribbean. Congenital heart anomalies remained the leading cause of deaths and disability-adjusted life years (DALYs). The proportion of years lived with disability (YLD) in total DALY increased significantly from 1990 to 2021, indicating a shift from fatal to non-fatal burden. The global age-standardised mortality rate markedly declined from 1990 to 2021, while the YLD rate remained relatively stable. Negative correlations were observed between the incidence, mortality, years of life lost (YLL) and DALY rates of congenital birth defects and HAQ Index of 204 countries and territories, whereas positive correlations were found for prevalence and YLD. Conclusions: Although remarkable progress has been made in reducing the global burden of congenital birth defects, it remains a major health issue in low sociodemographic index regions lacking equitable access to healthcare facilities. The shift from fatal to non-fatal burden underscores specific medical conditions for the increasing number of adult patients with congenital birth defects to promote postoperative rehabilitation and prevent complications.