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Cell-free DNA methylome analysis for early preeclampsia prediction
Marie De Borre1,2, Huiwen Che1, Qian Yu1
1Laboratory for Functional Epigenetics, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Insights
Identifying pregnancies at risk for preeclampsia (PE) early is crucial. Cell-free DNA methylation profiling in the first trimester shows promise for early PE risk assessment, improving obstetric care.
Area of Science:
- Reproductive Medicine
- Genomics
- Epigenetics
Background:
- Preeclampsia (PE) is a major cause of peripartal morbidity, particularly when it develops early in pregnancy.
- Early identification of pregnancies at risk for PE is essential for implementing preventive strategies.
Purpose of the Study:
- To identify pregnancies at risk for preeclampsia (PE) in the first trimester.
- To evaluate cell-free DNA (cfDNA) methylation profiling as a tool for early PE risk stratification.
Main Methods:
- Plasma-derived cfDNA methylomes were profiled from 498 pregnant women, including those who developed early-onset PE.
- DNA methylation differences were analyzed to develop a risk prediction model for PE.
Main Results:
- The cfDNA methylation profiling identified risk stratification for PE presymptomatically around 12 weeks of gestation.
- The first-trimester risk prediction model achieved an AUC of 0.75, increasing to 0.85 when combined with maternal risk factors.
- The combined risk score predicted 72% of early-onset PE cases with 80% specificity.
Conclusions:
- Cell-free DNA methylation profiling is a promising tool for presymptomatic assessment of preeclampsia risk.
- This approach has the potential to enhance treatment and follow-up strategies in obstetrics.
Abstract:
Preeclampsia (PE) is a leading cause for peripartal morbidity, especially if developing early in gestation. To enable prophylaxis in the prevention of PE, pregnancies at risk of PE must be identified early-in the first trimester. To identify at-risk pregnancies we profiled methylomes of plasma-derived, cell-free DNA from 498 pregnant women, of whom about one-third developed early-onset PE. We detected DNA methylation differences between control and PE pregnancies that enabled risk stratification at PE diagnosis but also presymptomatically, at around 12 weeks of gestation (range 9-14 weeks). The first-trimester risk prediction model was validated in an external cohort collected from two centers (area under the curve (AUC) = 0.75) and integrated with routinely available maternal risk factors (AUC = 0.85). The combined risk score correctly predicted 72% of patients with early-onset PE at 80% specificity. These preliminary results suggest that cell-free DNA methylation profiling is a promising tool for presymptomatic PE risk assessment, and has the potential to improve treatment and follow-up in the obstetric clinic.
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