Frontiers in public health · 2026
Avoidable under-5 mortality from congenital and genetic disorders: a frontier analysis of GBD 2023 identifying intervention targets.
СтатьяНазвание и аннотация: Перевод в очереди
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Ruan Jingjing, Tao Zewen, Zhang Kaiye, Wu Shaoran, Zhou Ying, Yu Xiaoxiao, Zhang Hao, Liu Guangyao, Zhang Yue
Аннотация
INTRODUCTION: Global under-5 mortality has fallen sharply since 1990, yet congenital and genetic disorders (ConGDs), spanning structural birth defects and inherited red-cell disorders (hemoglobinopathies and hemolytic anemias), have not previously been assessed as a composite burden. Effective interventions exist, but an implementation gap persists between availability and population-level delivery. We aimed to (1) quantify the temporal shift in the relative importance of ConGDs within under-5 mortality across 204 countries, and (2) apply frontier analysis to estimate avoidable ConGD mortality and identify intervention targets.
METHODS: Using GBD 2023, we aggregated 13 congenital and genetic causes (9 structural anomalies, 4 hemoglobinopathies and hemolytic anemias) for children under 5 from 1990 to 2023. We calculated age-standardized mortality rates (ASMR), proportional mortality ratios (PMR), and 95% uncertainty intervals (UI). Frontier analysis used log-transformed quantile regression (τ = 0.05) with natural cubic splines (df = 3) to estimate best-achievable mortality at each Socio-demographic Index (SDI) level.
RESULTS: ConGD ASMR fell 29.4% (105.70 [95% UI 72.44-153.23] to 74.64 [49.50-114.00] per 100,000), far slower than the 64.7% decline in communicable, maternal, neonatal, and nutritional (CMNN) diseases. PMR almost doubled (5.59% [3.78-8.20] to 10.28% [6.70-15.98]), reflecting differential decline rather than rising incidence. ConGDs moved from the 4th to the 2nd leading cause of under-5 death. ASMR correlated negatively with SDI (ρ = - 0.78); the PMR-SDI relationship was positive but is a compositional artifact of faster all-cause mortality decline at higher SDI. Mortality concentrated neonatally (0-6 days) for structural defects but peaked in early childhood for hemoglobinopathies. Frontier analysis estimated up to 251,423 (95% CI 201,692-289,940) potentially avoidable deaths in 2023 (52.4% of total), with efficiency gaps at every SDI level.
DISCUSSION: Nearly half of ConGD deaths in children under 5 are potentially avoidable. Three priority intervention targets emerge: (1) point-of-care newborn screening scale-up; (2) pediatric surgical capacity building for congenital heart defects; and (3) sickle cell chronic care programs that use proven therapies. A fourth, emerging opportunity lies in molecular diagnostics. Closing these gaps offers a high-impact route toward SDG 3.2.
METHODS: Using GBD 2023, we aggregated 13 congenital and genetic causes (9 structural anomalies, 4 hemoglobinopathies and hemolytic anemias) for children under 5 from 1990 to 2023. We calculated age-standardized mortality rates (ASMR), proportional mortality ratios (PMR), and 95% uncertainty intervals (UI). Frontier analysis used log-transformed quantile regression (τ = 0.05) with natural cubic splines (df = 3) to estimate best-achievable mortality at each Socio-demographic Index (SDI) level.
RESULTS: ConGD ASMR fell 29.4% (105.70 [95% UI 72.44-153.23] to 74.64 [49.50-114.00] per 100,000), far slower than the 64.7% decline in communicable, maternal, neonatal, and nutritional (CMNN) diseases. PMR almost doubled (5.59% [3.78-8.20] to 10.28% [6.70-15.98]), reflecting differential decline rather than rising incidence. ConGDs moved from the 4th to the 2nd leading cause of under-5 death. ASMR correlated negatively with SDI (ρ = - 0.78); the PMR-SDI relationship was positive but is a compositional artifact of faster all-cause mortality decline at higher SDI. Mortality concentrated neonatally (0-6 days) for structural defects but peaked in early childhood for hemoglobinopathies. Frontier analysis estimated up to 251,423 (95% CI 201,692-289,940) potentially avoidable deaths in 2023 (52.4% of total), with efficiency gaps at every SDI level.
DISCUSSION: Nearly half of ConGD deaths in children under 5 are potentially avoidable. Three priority intervention targets emerge: (1) point-of-care newborn screening scale-up; (2) pediatric surgical capacity building for congenital heart defects; and (3) sickle cell chronic care programs that use proven therapies. A fourth, emerging opportunity lies in molecular diagnostics. Closing these gaps offers a high-impact route toward SDG 3.2.