Predicting Delayed Diagnosis in Critical Congenital Heart Disease: Risk Score Development and Economic Analysis

Background Delayed diagnosis of critical congenital heart disease (CCHD) is associated with increased morbidity, mortality, and healthcare costs, particularly in low- and middle-income countries. Reliable predictive tools for the early identification of infants at risk for delayed diagnosis are unavailable. This study aimed to develop and validate a clinical risk score for predicting delayed CCHD diagnosis, assess its relationship with mortality, and evaluate the cost effectiveness of timely compared with delayed diagnosis. Methods A retrospective cohort of 871 children with echocardiography-confirmed CCHD (2019–2024) was analyzed. Predictors of delayed diagnosis were identified through multivariable logistic regression and converted into an additive point-based risk score. Model discrimination was evaluated via the area under the receiver operating characteristic curve (AUC), with Youden’s index used to identify the optimal threshold. Mortality associations were analyzed via adjusted logistic regression. Economic evaluation compared timely and delayed diagnoses on the basis of direct medical costs and disability-adjusted life years (DALYs) from the healthcare provider perspective, with one-way sensitivity analysis performed. Results Delayed diagnosis occurred in 72.44% of the patients. Syndromic features, low birth weight, rural residence, and low socioeconomic status independently predict delay. The risk score achieved moderate discriminatory performance (AUC 0.66; 95% CI 0.62–0.70), and a cutoff of ≥ 5 points identified 42% of infants as high risk (sensitivity 59% (95% CI 0.55–0.63), specificity 64% (95% CI 0.58–0.70)). High-risk classification was not associated with mortality (aOR 1.01; 95% CI 0.52–1.98), whereas delayed diagnosis was associated with lower mortality (aOR 0.36; 95% CI 0.26–0.49). Timely diagnosis resulted in lower overall expected costs despite similar DALYs, producing an incremental cost-effectiveness ratio of -IDR388,897 per DALY averted. Conclusions A simple, clinically applicable risk score can identify infants at risk of delayed CCHD diagnosis. Although delayed diagnosis does not predict mortality, timely diagnosis reduces overall healthcare costs, reinforcing the value of early detection and equitable access to pediatric cardiac care in resource-limited settings.