Cell-free DNA methylome analysis for early preeclampsia prediction

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.