Uncovering the hidden burden of congenital anomalies in Ecuador: a national integrated analysis of hospital discharges, mortality records, and live birth statistics (2012–2024)

Congenital anomalies (CA), ICD-10 Q00–Q99 codes, are major causes of infant morbidity and mortality, but national assessments remain limited in countries without integrated birth defect surveillance. This study characterized hospital burden, mortality, and epidemiological patterns of CA among infants in Ecuador. A retrospective descriptive analysis of national administrative records was conducted using data from the INEC. Hospital discharge records covered 2012–2024, while mortality records and live birth statistics were incorporated according to availability. Analyses were restricted to infants under 1 year of age. Descriptive statistics, graphical assessment of temporal patterns, non-parametric comparison between periods, and correlation analyses were applied. Overall, 43,134 hospital discharge events associated with CA were recorded, with a mean annual count of 3,318. Separately, in the code-level analysis of the 50 most frequent ICD-10 diagnostic codes, cardiovascular, musculoskeletal, and genitourinary categories accounted for the largest aggregated counts. Hospital discharges decreased significantly during the pandemic/post-pandemic period compared with 2012–2019 (-21.8%, p = 0.0015). Mortality indicators varied across conditions, with higher death-to-discharge ratios in selected cardiac, valve, pulmonary, and body wall anomalies. Hospital discharge rates ranged from 10.67 to 13.18 per 1,000 live births during 2021–2024. Mortality rates ranged from 1.38 to 1.47 per 1,000 live births; however, only 2021 and 2024 mortality values were observed, whereas 2022 and 2023 were interpolated. A moderate correlation was observed between hospital discharges and deaths (r ≈ 0.48). CA impose a substantial burden on infant health services in Ecuador. Integrating hospital discharge, mortality, and live birth data revealed complementary but non-equivalent dimensions of burden, supporting stronger surveillance, improved data linkage, and timely referral pathways for high-risk conditions. Burden of disease. Congenital anomalies accounted for more than 43,000 hospital discharge events among infants under 1 year of age in Ecuador, indicating a persistent burden on pediatric healthcare services. Leading conditions. Among the 50 most frequent ICD-10 diagnostic codes, cardiovascular anomalies represented the largest grouped code-level category, followed by musculoskeletal and genitourinary anomalies, indicating substantial demand for specialized pediatric, neonatal, surgical, and follow-up care. COVID-19 period. Hospital discharges decreased significantly during the pandemic/post-pandemic period compared with 2012–2019, with partial recovery in subsequent years. Mortality heterogeneity. Mortality indicators varied widely across diagnostic categories, with higher death-to-discharge ratios observed for complex cardiac, valve, pulmonary, and body wall anomalies. Public health gap. The absence of an integrated national congenital anomaly surveillance system limits accurate burden estimation, comparability across data sources, and identification of preventable gaps in care. Strengthening surveillance and data linkage is essential for targeted, evidence-based public health interventions.