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February 7, 2023Open Access

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

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Key result

Xgboost machine learning model using clinical variables predicts late-pregnancy preeclampsia with 0.91 AUC.

  • AUC 0.91
  • n=1,125

Why the study?

Preeclampsia is a leading cause of maternal and neonatal morbidity and mortality, and predictive tools are needed to identify individuals most at risk.

Does integrating clinical and genetic factors (SBP PRS) using machine learning improve the prediction of preeclampsia in pregnant individuals?

Population

N=1,125 pregnant individuals who delivered between 05/2015-05/2022 at Mass General Brigham hospitals

Comparison

Machine learning and linear regression models using clinical EHR data with or without SBP PRS

Design

Retrospective cohort study

Authors

VKVesela KovachevaBrigham and Women's HospitalBEBraden W. EberhardCalifornia University of PennsylvaniaRCRaphael Y. CohenBrigham and Women's Hospital

Discussion

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Member takes

Implication

Supports validation of ML models for late-pregnancy preeclampsia prediction; leaves open added value of genetic factors before clinical adoption.

Study Design

Type

Cohort (n=1,125)

Multicenter

Yes

Structured PICO

Does integrating clinical and genetic factors (SBP PRS) using machine learning improve the prediction of preeclampsia in pregnant individuals?

P
Population
1,125 pregnant individuals with available electronic health record and linked genetic data who delivered at Mass General Brigham hospitals.
E
Exposure
Machine learning (xgboost) and linear regression models integrating clinical EHR data and systolic blood pressure polygenic risk scores (SBP PRS)
C
Comparator
Models using only clinical variables or only genetic variables
O
Outcome
Prediction of preeclampsia risk (measured by Area Under the Curve [AUC])

Main Result

Effect estimate: AUC 0.91

Machine learning models using clinical variables can highly accurately predict preeclampsia in late pregnancy, while polygenic risk scores offer modest predictive improvements in early pregnancy.

Limitations

  • SBP PRS was developed using a European population
  • Limited sample size of preeclampsia cases (N=87)
  • Small cohort of patients
  • Limited types of analyses (unable to investigate predictions of early-onset preeclampsia)
  • Some variables are based on billing codes which may be inaccurate and do not reflect disease severity

Cite This Study

Kovacheva et al. (2023) conducted a cohort in Preeclampsia (n=1,125). Clinical and genetic risk factors (SBP PRS) predictive models was evaluated on Prediction of preeclampsia (Area Under the Curve) (AUC 0.91). An xgboost machine learning model using clinical variables achieved an area under the curve of 0.91 for predicting preeclampsia in late pregnancy.

synapsesocial.com/papers/6aa3e7a4fd19ae9969b15363https://doi.org/10.1101/2023.02.03.23285385
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults2018 · 869 citations
  2. 2Gestational Hypertension and Preeclampsia2020 · 2,912 citations
  3. 3Prediction and Interaction in Complex Disease Genetics: Experience in Type 1 Diabetes2009 · 260 citations
  4. 4Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at PLEKHG12018 · 59 citations