Automated detection of pediatric congenital heart disease from phonocardiograms using deep and handcrafted feature fusion

Congenital heart disease (CHD) is the most common birth defect, yet a large fraction of cases remain undetected on prenatal ultrasound, in part because current artificial-intelligence methods assume that the key diagnostic frames have already been isolated from a study, by a clinician or by a view classifier. We remove that assumption and address CHD screening directly at the level of the whole ultrasound study. We propose a two-stage framework that first learns transferable frame representations by self-supervised masked-autoencoder pre-training on unlabeled fetal ultrasound, then identifies cardiac frames with a disease-robust module and aggregates them with a transformer-based multiple instance learning (MIL) model that produces a case-level diagnosis from study-level labels alone. The model further returns its highest-scoring frames for clinician review, and a hierarchical head separates critical from non-critical CHD. On the internal test set of our multi-source development cohort (FUSE), the proposed cardiac-gated MIL model reaches an area under the curve (AUC) of 0.985 with a specificity of 0.990, outperforming the reproduced NATMED ensemble (AUC 0.861, specificity 0.600) and the FetalCLIP foundation model (AUC 0.867, specificity 0.710). On an independent external cohort, all models initially perform near chance, but label-free CORAL adaptation raises the proposed model from an AUC of 0.513 to 0.944, whereas whole-study and view-dependent baselines do not recover. These results indicate that whole-study MIL with disease-robust cardiac-frame identification is an accurate and deployable route to prenatal CHD screening.

Congenital heart disease (CHD) refers to the abnormal anatomical structure caused by the abnormal development of the heart and great vessels during embryonic development. Traditional diagnostics often fail to achieve high accuracy and efficiency, especially given the complexity of cardiac anatomy. This study presents a specialized multi-view deep learning framework for CHD binary classification using echocardiographic images. A large-scale CHD dataset, including five views, was used to train the model, enabling it to integrate multi-angle image data. The framework utilizes advanced feature extraction and attention mechanisms to improve diagnostic precision and reliability. An uncertainty-based decision-making component is also integrated to handle low-quality images, enhancing diagnostic outcomes. Experimental results show that this method achieves top-tier performance on our dataset and provides a robust tool for early CHD detection, underscoring its potential for clinical use. The dataset and source code will be released upon paper acceptance.

The scarcity of positive cases remains a major bottleneck in developing automated diagnostic systems for fetal Congenital Heart Defects~(CHDs), particularly for rare subtypes. Although normal cases are accessible with effort, positive cases are hard to collect due to low incidence rates and privacy concerns, causing severe class imbalance or absence of positive training samples. Existing works resort to synthesizing positives with conditional generative models, but they are task-specific and require positive training samples, hindering application for fetal CHDs. To this end, we propose a positive-free mask-guided counterfactual generation framework for fetal echocardiography, namely Pos4CHD, which enables realistic, high-quality synthesis of pseudo-positive samples from semantic masks, with only normal samples at hand. Technically, we first develop FE-Gen, a mask-guided generative model tailored for fetal heart ultrasound synthesis that mitigates histogram drift and enhances image-mask spatial alignment. Building on FE-Gen, Pos4CHD employs a mask-to-image generation paradigm for CHD synthesis. It first manipulates semantic masks to simulate fetal-heart structural anomalies and then renders anatomically consistent images. Extensive experiments on in-house datasets, together with expert evaluations, demonstrate the visual fidelity~($-12.97$ FID) and anatomical consistency~($+3.96\%$ DSC) of synthesized images. Further validations across diverse real-world CHD diagnosis tasks exhibit promising results and consistent increments, including zero-shot classification~(achieving $93.25\%$ ACC on EbA and $72.92\%$ ACC on TAPVC), lesion detection~($+6.95\%$ mAP50 on VSD), and anatomy segmentation~($+10.49\%$ DSC on fetal heart) compared with baselines. Codes and models are publicly available on GitHub.