Preeclampsia Prediction Using Machine Learning and Polygenic Risk Scores From Clinical and Genetic Risk Factors in Early and Late Pregnancies.

BACKGROUND: Preeclampsia, a pregnancy-specific condition associated with new-onset hypertension after 20-weeks gestation, is a leading cause of maternal and neonatal morbidity and mortality. Predictive tools to understand which individuals are most at risk are needed. METHODS: We identified a cohort of N=1125 pregnant individuals who delivered between May 2015 and May 2022 at Mass General Brigham Hospitals with available electronic health record data and linked genetic data. Using clinical electronic health record data and systolic blood pressure polygenic risk scores derived from a large genome-wide association study, we developed machine learning (XGBoost) and logistic regression models to predict preeclampsia risk. RESULTS: Pregnant individuals with a systolic blood pressure polygenic risk score in the top quartile had higher blood pressures throughout pregnancy compared with patients within the lowest quartile systolic blood pressure polygenic risk score. In the first trimester, the most predictive model was XGBoost, with an area under the curve of 0.74. In late pregnancy, with data obtained up to the delivery admission, the best-performing model was XGBoost using clinical variables, which achieved an area under the curve of 0.91. Adding the systolic blood pressure polygenic risk score to the models did not improve the performance significantly based on De Long test comparing the area under the curve of models with and without the polygenic score. CONCLUSIONS: Integrating clinical factors into predictive models can inform personalized preeclampsia risk and achieve higher predictive power than the current practice. In the future, personalized tools can be implemented to identify high-risk patients for preventative therapies and timely intervention to improve adverse maternal and neonatal outcomes.

An Interpretable Longitudinal Preeclampsia Risk Prediction Using Machine Learning.

Background: Preeclampsia is a pregnancy-specific disease characterized by new onset hypertension after 20 weeks of gestation that affects 2-8% of all pregnancies and contributes to up to 26% of maternal deaths. Despite extensive clinical research, current predictive tools fail to identify up to 66% of patients who will develop preeclampsia. We sought to develop a tool to longitudinally predict preeclampsia risk. Methods: In this retrospective model development and validation study, we examined a large cohort of patients who delivered at six community and two tertiary care hospitals in the New England region between 02/2015 and 06/2023. We used sociodemographic, clinical diagnoses, family history, laboratory, and vital signs data. We developed eight datasets at 14, 20, 24, 28, 32, 36, 39 weeks gestation and at the hospital admission for delivery. We created linear regression, random forest, xgboost, and deep neural networks to develop multiple models and compared their performance. We used Shapley values to investigate the global and local explainability of the models and the relationships between the predictive variables. Findings: Our study population (N=120,752) had an incidence of preeclampsia of 5.7% (N=6,920). The performance of the models as measured using the area under the curve, AUC, was in the range 0.73-0.91, which was externally validated. The relationships between some of the variables were complex and non-linear; in addition, the relative significance of the predictors varied over the pregnancy. Compared to the current standard of care for preeclampsia risk stratification in the first trimester, our model would allow 48.6% more at-risk patients to be identified. Interpretation: Our novel preeclampsia prediction tool would allow clinicians to identify patients at risk early and provide personalized predictions, as well as longitudinal predictions throughout pregnancy. Funding: National Institutes of Health, Anesthesia Patient Safety Foundation. RESEARCH IN CONTEXT: Evidence before this study: Current tools for the prediction of preeclampsia are lacking as they fail to identify up to 66% of the patients who develop preeclampsia. We searched PubMed, MEDLINE, and the Web of Science from database inception to May 1, 2023, using the keywords "deep learning", "machine learning", "preeclampsia", "artificial intelligence", "pregnancy complications", and "predictive models". We identified 13 studies that employed machine learning to develop prediction models for preeclampsia risk based on clinical variables. Among these studies, six included biomarkers such as serum placental growth factor, pregnancy-associated plasma protein A, and uterine artery pulsatility index, which are not routinely available in our clinical practice; two studies were in diverse cohorts of more than 100 000 patients, and two studies developed longitudinal predictions using medical records data. However, most studies have limited depth, concerns about data leakage, overfitting, or lack of generalizability.Added value of this study: We developed a comprehensive longitudinal predictive tool based on routine clinical data that can be used throughout pregnancy to predict the risk of preeclampsia. We tested multiple types of predictive models, including machine learning and deep learning models, and demonstrated high predictive power. We investigated the changes over different time points of individual and group variables and found previously known and novel relationships between variables such as red blood cell count and preeclampsia risk.Implications of all the available evidence: Longitudinal prediction of preeclampsia using machine learning can be achieved with high performance. Implementation of an accurate predictive tool within the electronic health records can aid clinical care and identify patients at heightened risk who would benefit from aspirin prophylaxis, increased surveillance, early diagnosis, and escalation in care. These results highlight the potential of using artificial intelligence in clinical decision support, with the ultimate goal of reducing iatrogenic preterm birth and improving perinatal care.

A Methodology for a Scalable, Collaborative, and Resource-Efficient Platform, MERLIN, to Facilitate Healthcare AI Research.

Healthcare artificial intelligence (AI) holds the potential to increase patient safety, augment efficiency and improve patient outcomes, yet research is often limited by data access, cohort curation, and tools for analysis. Collection and translation of electronic health record data, live data, and real-time high-resolution device data can be challenging and time-consuming. The development of clinically relevant AI tools requires overcoming challenges in data acquisition, scarce hospital resources, and requirements for data governance. These bottlenecks may result in resource-heavy needs and long delays in research and development of AI systems. We present a system and methodology to accelerate data acquisition, dataset development and analysis, and AI model development. We created an interactive platform that relies on a scalable microservice architecture. This system can ingest 15,000 patient records per hour, where each record represents thousands of multimodal measurements, text notes, and high-resolution data. Collectively, these records can approach a terabyte of data. The platform can further perform cohort generation and preliminary dataset analysis in 2-5 minutes. As a result, multiple users can collaborate simultaneously to iterate on datasets and models in real time. We anticipate that this approach will accelerate clinical AI model development, and, in the long run, meaningfully improve healthcare delivery.

Prediction of Preeclampsia from Clinical and Genetic Risk Factors in Early and Late Pregnancy Using Machine Learning and Polygenic Risk Scores.

Background: Preeclampsia, a pregnancy-specific condition associated with new-onset hypertension after 20 weeks gestation, is a leading cause of maternal and neonatal morbidity and mortality. Predictive tools to understand which individuals are most at risk are needed. Methods: We identified a cohort of N=1,125 pregnant individuals who delivered between 05/2015-05/2022 at Mass General Brigham hospitals with available electronic health record (EHR) data and linked genetic data. Using clinical EHR data and systolic blood pressure polygenic risk scores (SBP PRS) derived from a large genome-wide association study, we developed machine learning (xgboost) and linear regression models to predict preeclampsia risk. Results: Pregnant individuals with an SBP PRS in the top quartile had higher blood pressures throughout pregnancy compared to patients within the lowest quartile SBP PRS. In the first trimester, the most predictive model was xgboost, with an area under the curve (AUC) of 0.73. Adding the SBP PRS to the models improved the performance only of the linear regression model from AUC 0.70 to 0.71; the predictive power of other models remained unchanged. In late pregnancy, with data obtained up to the delivery admission, the best performing model was xgboost using clinical variables, which achieved an AUC of 0.91. Conclusions: Integrating clinical and genetic factors into predictive models can inform personalized preeclampsia risk and achieve higher predictive power than the current practice. In the future, personalized tools can be implemented in clinical practice to identify high-risk patients for preventative therapies and timely intervention to improve adverse maternal and neonatal outcomes.

An Orchestration Platform that Puts Radiologists in the Driver's Seat of AI Innovation: a Methodological Approach.

Current AI-driven research in radiology requires resources and expertise that are often inaccessible to small and resource-limited labs. The clinicians who are able to participate in AI research are frequently well-funded, well-staffed, and either have significant experience with AI and computing, or have access to colleagues or facilities that do. Current imaging data is clinician-oriented and is not easily amenable to machine learning initiatives, resulting in inefficient, time consuming, and costly efforts that rely upon a crew of data engineers and machine learning scientists, and all too often preclude radiologists from driving AI research and innovation. We present the system and methodology we have developed to address infrastructure and platform needs, while reducing the staffing and resource barriers to entry. We emphasize a data-first and modular approach that streamlines the AI development and deployment process while providing efficient and familiar interfaces for radiologists, such that they can be the drivers of new AI innovations.