Article ; Online: Cell-free DNA methylome analysis for early preeclampsia prediction.
2023 Volume 29, Issue 9, Page(s) 2206–2215
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 ... ...
| 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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| MeSH term(s) | Pregnancy ; Humans ; Female ; Epigenome ; Pre-Eclampsia/diagnosis ; Pre-Eclampsia/genetics ; Area Under Curve ; Cell-Free Nucleic Acids/genetics ; DNA Methylation/genetics |
| Chemical Substances | Cell-Free Nucleic Acids |
| Language | English |
| Publishing date | 2023-08-28 |
| Publishing country | United States |
| Document type | Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 1220066-9 |
| ISSN | 1546-170X ; 1078-8956 |
| ISSN (online) | 1546-170X |
| ISSN | 1078-8956 |
| DOI | 10.1038/s41591-023-02510-5 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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