Objective: This article explores the application of machine learning (ML) models to identify maternal risk factors for congenital heart defects (CHDs) in offspring. CHDs are the most common birth anomalies, affecting approximately 1 in 100 live births, and early risk identification is crucial for improving neonatal outcomes. This study aims to evaluate the performance of various ML algorithms and identify key maternal factors associated with CHD prediction.

Methods: We conducted a review of existing literature, focusing on studies that used ML models for CHD risk prediction. The analysis included various algorithms, from simpler models like Logistic Regression to more complex ensemble methods (Random Forest, Gradient Boosting) and Neural Networks. We also considered critical aspects of the ML pipeline, including data preprocessing, feature selection from maternal electronic health records and environmental registries, and the use of key evaluation metrics such as AUC-ROC, precision, recall, and F1-score to assess clinical utility.

Results: Our analysis indicates that advanced ML models, particularly ensemble methods and Neural Networks, consistently outperform traditional statistical approaches and simpler ML models. These models effectively leverage a wide range of input features, including maternal age, pre-existing medical conditions, and environmental exposures, to achieve superior predictive accuracy and recall. The enhanced performance of these models highlights their potential for identifying at-risk pregnancies, which is essential given the high stakes of false negatives.

Conclusion: Machine learning is a transformative tool for prenatal risk assessment, offering a powerful way to identify maternal risk factors for CHDs. The application of these models can facilitate targeted counseling for parents, optimize prenatal monitoring, and enable planned deliveries at specialized centers. While challenges such as data privacy and model interpretability must be addressed, the integration of ML into clinical practice holds immense promise for improving health outcomes for infants with congenital heart defects.