Life-limiting congenital anomalies require accurate prenatal diagnosis for appropriate clinical decision-making. Prenatal ultrasound (US) examinations involve multiple anatomical planes, and diagnosis depends on identifying anatomical planes and selecting diagnostically relevant planes for each anomaly. Existing automated methods either rely on plane-level annotations or aggregate heterogeneous images without explicitly modeling these diagnostic capabilities. We propose AnomExpert, a prototype-driven framework for prenatal US anomaly diagnosis using only case-level supervision. AnomExpert introduces learnable plane prototypes to organize unordered images into latent representations corresponding to anatomical planes without requiring plane annotations. A disease-aware sparse selection mechanism further selects diagnostically relevant planes for each anomaly. Experiments on a multi-center dataset of 3,654 cases show that AnomExpert consistently outperforms nine representative multi-instance learning methods. Using a ViT-small backbone, it achieves 86.9% accuracy and 84.2% F1-score while maintaining parameter efficiency. These findings indicate that modeling anatomical plane identifi
Prenatal anomaly classification and localization is of critical importance for fetal health and pregnancy management. Although ultrasound (US) is the primary modality for prenatal screening, accurate diagnosis remains challenging due to the low prevalence and high heterogeneity of anomalies. Existing deep learning methods for prenatal tasks rely on large-scale annotated datasets, which are difficult to obtain in practice. Although few-shot learning alleviates data scarcity, it typically requires fine-tuning for new categories, limiting its practicality in resource-limited clinical settings. To address these challenges, we propose a training-free framework for multi-class prenatal US anomaly classification and localization that operates with only a few reference images per class, representing the first exploration of this setting. Our framework comprises three key components: (1) a memory bank with multi-granular prototypes that explicitly models both class-level semantics and anomaly characteristics; (2) a prototype-driven soft merging mechanism that aggregates discriminative features to detect the anomaly region; and (3) a class-aware refinement strategy that leverages prototype c
Do transformers learn like brains? A key challenge in addressing this question is that transformers and brains are trained on fundamentally different data. Brains are initially "trained" on prenatal sensory experiences (e.g., retinal waves), whereas transformers are typically trained on large datasets that are not biologically plausible. We reasoned that if transformers learn like brains, then they should develop the same structure as newborn brains when exposed to the same prenatal data. To test this prediction, we simulated prenatal visual input using a retinal wave generator. Then, using self-supervised temporal learning, we trained transformers to adapt to those retinal waves. During training, the transformers spontaneously developed the same structure as newborn visual systems: (1) early layers became sensitive to edges, (2) later layers became sensitive to shapes, and (3) the models developed larger receptive fields across layers. The organization of newborn visual systems emerges spontaneously when transformers adapt to a prenatal visual world. This developmental convergence suggests that brains and transformers learn in common ways and follow the same general fitting princi
Fetal abdominal malformations are serious congenital anomalies that require accurate diagnosis to guide pregnancy management and reduce mortality. Although AI has demonstrated significant potential in medical diagnosis, its application to prenatal abdominal anomalies remains limited. Most existing studies focus on image-level classification and rely on standard plane localization, placing less emphasis on case-level diagnosis. In this paper, we develop a case-level multiple instance learning (MIL)-based method, free of standard plane localization, for classifying fetal abdominal anomalies in prenatal ultrasound. Our contribution is three-fold. First, we adopt a mixture-of-attention-experts module (MoAE) to weight different attention heads for various planes. Secondly, we propose a medical-knowledge-driven feature selection module (MFS) to align image features with medical knowledge, performing self-supervised image token selection at the case-level. Finally, we propose a prompt-based prototype learning (PPL) to enhance the MFS. Extensively validated on a large prenatal abdominal ultrasound dataset containing 2,419 cases, with a total of 24,748 images and 6 categories, our proposed
Prenatal care is an important preventive service designed to improve outcomes for pregnant individuals. The American College of Obstetricians and Gynecologists (ACOG) recently introduced guidelines advocating tailored prenatal care, called PATH (Plan for Tailored Healthcare). We present PATHFinder Agent(Planner for Appropriate Tailored Healthcare), an end-to-end conversational agentic system that gathers patient health and social context through structured dialogue, curates individualized prenatal care plans aligned with PATH guidelines, and surfaces community resources from Michigan 211. The system features a four-stage workflow spanning patient intake, dynamic interaction, plan synthesis, and clinician oversight. We evaluate frontier large language models (LLMs) on expert-curated rubrics across five clinical dimensions, finding that GPT-5.2 achieves the highest average score (77.6\%) while identifying key gaps in antenatal testing recommendations. We discuss future validation through human participant studies and randomized controlled trials.
Background: Researchers typically identify pregnancies in healthcare data based on observed outcomes (e.g., delivery). This outcome-based approach misses pregnancies that received prenatal care but whose outcomes were not recorded (e.g., at-home miscarriage), potentially inducing selection bias in effect estimates for prenatal exposures. Alternatively, prenatal encounters can be used to identify pregnancies, including those with unobserved outcomes. However, this prenatal approach requires methods to address missing data. Methods: We simulated 10,000,000 pregnancies and estimated the total effect of initiating treatment on the risk of preeclampsia. We generated data for 36 scenarios in which we varied the effect of treatment on miscarriage and/or preeclampsia; the percentage with missing outcomes (5% or 20%); and the cause of missingness: (1) measured covariates, (2) unobserved miscarriage, and (3) a mix of both. We then created three analytic samples to address missing pregnancy outcomes: observed deliveries, observed deliveries and miscarriages, and all pregnancies. Treatment effects were estimated using non-parametric direct standardization. Results: Risk differences (RDs) and r
Selective mortality and fertility issues are persistent challenges in estimating the fetal origin effect, with attempts to address these issues being notably scarce. Evidence further suggests that selective mortality is more pronounced in males than in females. This study investigates the causal effects of prenatal exposure to the Great Chinese Famine on educational attainment by addressing gender-specific selection bias. We compare exposed individuals with their unexposed, same-gender siblings, using a famine intensity measure based on county-year level excess death rates. Our findings reveal remarkably similar consequences for both genders: on average, famine exposure increased illiteracy rates by 4 percentage points and decreased years of schooling by 0.3 years for both males and females. These results contribute to our understanding of the long-term impacts of prenatal malnutrition, while accounting for gender-specific selection biases.
Congenital heart disease (CHD) screening from fetal echocardiography requires accurate analysis of multiple standard cardiac views, yet developing reliable artificial intelligence models remains challenging due to limited annotations and variable image quality. In this work, we propose FM-DACL, a semi-supervised Dual Agreement Consistency Learning framework for the FETUS 2026 challenge on fetal heart ultrasound segmentation and diagnosis. The method combines a pretrained ultrasound foundation model (EchoCare) with a convolutional network through heterogeneous co-training and an exponential moving average teacher to better exploit unlabeled data. Experiments on the multi-center challenge dataset show that FM-DACL achieves a Dice score of 59.66 and NSD of 42.82 using heterogeneous backbones, demonstrating the feasibility of the proposed semi-supervised framework. These results suggest that FM-DACL provides a flexible approach for leveraging heterogeneous models in low-annotation fetal cardiac ultrasound analysis. The code is available on https://github.com/13204942/FM-DACL.
Digital twins offer a promising solution to the lack of sufficient labeled data in deep learning-based fault diagnosis by generating simulated data for model training. However, discrepancies between simulation and real-world systems can lead to a significant drop in performance when models are applied in real scenarios. To address this issue, we propose a fault diagnosis framework based on Domain-Adversarial Neural Networks (DANN), which enables knowledge transfer from simulated (source domain) to real-world (target domain) data. We evaluate the proposed framework using a publicly available robotics fault diagnosis dataset, which includes 3,600 sequences generated by a digital twin model and 90 real sequences collected from physical systems. The DANN method is compared with commonly used lightweight deep learning models such as CNN, TCN, Transformer, and LSTM. Experimental results show that incorporating domain adaptation significantly improves the diagnostic performance. For example, applying DANN to a baseline CNN model improves its accuracy from 70.00% to 80.22% on real-world test data, demonstrating the effectiveness of domain adaptation in bridging the sim-to-real gap.
Dermatological conditions affect 1.9 billion people globally, yet accurate diagnosis remains challenging due to limited specialist availability and complex clinical presentations. Family history significantly influences skin disease susceptibility and treatment responses, but is often underutilized in diagnostic processes. This research addresses the critical question: How can AI-powered systems integrate family history data with clinical imaging to enhance dermatological diagnosis while supporting clinical trial validation and real-world implementation? We developed a comprehensive multi-modal AI framework that combines deep learning-based image analysis with structured clinical data, including detailed family history patterns. Our approach employs interpretable convolutional neural networks integrated with clinical decision trees that incorporate hereditary risk factors. The methodology includes prospective clinical trials across diverse healthcare settings to validate AI-assisted diagnosis against traditional clinical assessment. In this work, validation was conducted with healthcare professionals to assess AI-assisted outputs against clinical expectations; prospective clinical
Exposure to psychoactive substances during pregnancy, such as cannabis, can disrupt neurodevelopment and alter large-scale brain networks, yet identifying their neural signatures remains challenging. We introduced KOCOBrain: KuramotO COupled Brain Graph Network; a unified graph neural network framework that integrates structural and functional connectomes via Kuramoto-based phase dynamics and cognition-aware attention. The Kuramoto layer models neural synchronization over anatomical connections, generating phase-informed embeddings that capture structure-function coupling, while cognitive scores modulate information routing in a subject-specific manner followed by a joint objective enhancing robustness under class imbalance scenario. Applied to the ABCD cohort, KOCOBrain improved prenatal drug exposure prediction over relevant baselines and revealed interpretable structure-function patterns that reflect disrupted brain network coordination associated with early exposure.
Prenatal ultrasound is the cornerstone for detecting congenital anomalies of the kidneys and urinary tract, but diagnosis is limited by operator dependence and suboptimal imaging conditions. We sought to assess the performance of a self-supervised ultrasound foundation model for automated fetal renal anomaly classification using a curated dataset of 969 two-dimensional ultrasound images. A pretrained Ultrasound Self-Supervised Foundation Model with Masked Autoencoding (USF-MAE) was fine-tuned for binary and multi-class classification of normal kidneys, urinary tract dilation, and multicystic dysplastic kidney. Models were compared with a DenseNet-169 convolutional baseline using cross-validation and an independent test set. USF-MAE consistently improved upon the baseline across all evaluation metrics in both binary and multi-class settings. USF-MAE achieved an improvement of about 1.87% (AUC) and 7.8% (F1-score) on the validation set, 2.32% (AUC) and 4.33% (F1-score) on the independent holdout test set. The largest gains were observed in the multi-class setting, where the improvement in AUC was 16.28% and 46.15% in F1-score. To facilitate model interpretability, Score-CAM visualiza
The proposed study aimed to develop a deep learning model capable of detecting ventriculomegaly on prenatal ultrasound images. Ventriculomegaly is a prenatal condition characterized by dilated cerebral ventricles of the fetal brain and is important to diagnose early, as it can be associated with an increased risk for fetal aneuploidies and/or underlying genetic syndromes. An Ultrasound Self-Supervised Foundation Model with Masked Autoencoding (USF-MAE), recently developed by our group, was fine-tuned for a binary classification task to distinguish fetal brain ultrasound images as either normal or showing ventriculomegaly. The USF-MAE incorporates a Vision Transformer encoder pretrained on more than 370,000 ultrasound images from the OpenUS-46 corpus. For this study, the pretrained encoder was adapted and fine-tuned on a curated dataset of fetal brain ultrasound images to optimize its performance for ventriculomegaly detection. Model evaluation was conducted using 5-fold cross-validation and an independent test cohort, and performance was quantified using accuracy, precision, recall, specificity, F1-score, and area under the receiver operating characteristic curve (AUC). The propose
Experimental animal evidence and a growing body of observational studies suggest that prenatal exposure to phthalates may be a risk factor for childhood obesity. Using data from the Mount Sinai Children's Environmental Health Study (MSCEHS), which measured urinary phthalate metabolites (including MEP, MnBP, MiBP, MCPP, MBzP, MEHP, MEHHP, MEOHP, and MECPP) during the third trimester of pregnancy (between 25 and 40 weeks) of 382 mothers, we examined adiposity outcomes: body mass index (BMI), fat mass percentage, waist-to-hip ratio, and waist circumference, of 180 children between ages 4 and 9. We aimed to assess the effects of prenatal exposure to phthalates on these adiposity outcomes, with potential time-varying and sex-specific effects. We applied a novel Bayesian multivariate factor regression (BMFR) that (1) represents phthalate mixtures as latent factors, a DEHP and a non-DEHP factor, (2) borrows information across highly correlated adiposity outcomes to improve estimation precision, (3) models potentially non-linear time-varying effects of the latent factors on adiposity outcomes, and (4) fully quantifies uncertainty using state-of-the-art prior specifications. The results sho
In the realm of intelligent education, cognitive diagnosis plays a crucial role in subsequent recommendation tasks attributed to the revealed students' proficiency in knowledge concepts. Although neural network-based neural cognitive diagnosis models (CDMs) have exhibited significantly better performance than traditional models, neural cognitive diagnosis is criticized for the poor model interpretability due to the multi-layer perception (MLP) employed, even with the monotonicity assumption. Therefore, this paper proposes to empower the interpretability of neural cognitive diagnosis models through efficient kolmogorov-arnold networks (KANs), named KAN2CD, where KANs are designed to enhance interpretability in two manners. Specifically, in the first manner, KANs are directly used to replace the used MLPs in existing neural CDMs; while in the second manner, the student embedding, exercise embedding, and concept embedding are directly processed by several KANs, and then their outputs are further combined and learned in a unified KAN to get final predictions. To overcome the problem of training KANs slowly, we modify the implementation of original KANs to accelerate the training. Exper
Understanding how prenatal exposure to psychoactive substances such as cannabis shapes adolescent brain organization remains a critical challenge, complicated by the complexity of multimodal neuroimaging data and the limitations of conventional analytic methods. Existing approaches often fail to fully capture the complementary features embedded within structural and functional connectomes, constraining both biological insight and predictive performance. To address this, we introduced NeuroKoop, a novel graph neural network-based framework that integrates structural and functional brain networks utilizing neural Koopman operator-driven latent space fusion. By leveraging Koopman theory, NeuroKoop unifies node embeddings derived from source-based morphometry (SBM) and functional network connectivity (FNC) based brain graphs, resulting in enhanced representation learning and more robust classification of prenatal drug exposure (PDE) status. Applied to a large adolescent cohort from the ABCD dataset, NeuroKoop outperformed relevant baselines and revealed salient structural-functional connections, advancing our understanding of the neurodevelopmental impact of PDE.
Pregnancy loss is recognized as an important competing event in studies of prenatal medication use. However, a healthy live birth also precludes subsequent adverse pregnancy outcomes, yet these events are often censored. Using Monte Carlo simulation, we examine bias that results from failure to account for healthy live birth as a competing event in estimates of the total effect of prenatal medication use on pregnancy outcomes. We simulated data for 12 trials estimating the effect of antihypertensive initiation versus non-initiation on two outcomes: (1) composite fetal death or severe prenatal preeclampsia and (2) small-for-gestational-age (SGA) live birth. We used time-to-event methods to estimate absolute risks, risk differences and risk ratios. For the composite outcome, we conducted two analyses where non-preeclamptic live birth was (1) a censoring event and (2) a competing event. For SGA live birth, we conducted three analyses where fetal death and non-SGA live birth were (1) censoring events, (2) a competing event and censoring event, respectively; and (3) competing events. In all analyses, censoring healthy live births led to inflated absolute risk estimates as well as bias a
We address the challenge of causal inference status and the dose-response effects with a semi-continuous exposure. A two-stage approach is proposed using estimating equation for multiple outcomes with large sample properties derived for the resulting estimators. Homogeneity tests are developed to assess whether causal effects of exposure status and the dose-response effects are the same across multiple outcomes. A global homogeneity test is also developed to assess whether the effect of exposure status (exposed/not exposed) and the dose-response effect of the continuous exposure level are each equal across all outcomes. The methods of estimation and testing are rigorously evaluated in simulation studies and applied to a motivating study on the effects of prenatal alcohol exposure on childhood cognition defined by executive function (EF), academic achievement in math, and learning and memory (LM).
Accurate fetal birth weight prediction is a cornerstone of prenatal care, yet traditional methods often rely on imaging technologies that remain inaccessible in resource-limited settings. This study presents a novel machine learning-based framework that circumvents these conventional dependencies, using a diverse set of physiological, environmental, and parental factors to refine birth weight estimation. A multi-stage feature selection pipeline filters the dataset into an optimized subset, demonstrating previously underexplored yet clinically relevant predictors of fetal growth. By integrating advanced regression architectures and ensemble learning strategies, the model captures non-linear relationships often overlooked by traditional approaches, offering a predictive solution that is both interpretable and scalable. Beyond predictive accuracy, this study addresses a question: whether birth weight can be reliably estimated without conventional diagnostic tools. The findings challenge entrenched methodologies by introducing an alternative pathway that enhances accessibility without compromising clinical utility. While limitations exist, the study lays the foundation for a new era in
How can we identify problematic upstream processes when a certain type of wafer defect starts appearing at a quality checkpoint? Given the complexity of modern semiconductor manufacturing, which involves thousands of process steps, cross-process root cause analysis for wafer defects has been considered highly challenging. This paper proposes a novel framework called Trajectory Shapley Attribution (TSA), an extension of Shapley values (SV), a widely used attribution algorithm in explainable artificial intelligence research. TSA overcomes key limitations of standard SV, including its disregard for the sequential nature of manufacturing processes and its reliance on an arbitrarily chosen reference point. We applied TSA to a good-bad wafer diagnosis task in experimental front-end-of-line processes at the NY CREATES Albany NanoTech fab, aiming to identify measurement items (serving as proxies for process parameters) most relevant to abnormal defect occurrence.