ArticleNature medicine2025
Preeclampsia risk prediction from prenatal cell-free DNA screening.
Article in Nature medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Gene regulation at the early human maternal-fetal interface.Nature reviews. Genetics · 2026Review
- Reappraising the topology of cell-free fetal DNA in maternal blood toward improved prenatal genetic diagnostics.Science advances · 2026Review
- Article
- Immunology of Normal Pregnancy and Preeclampsia and the Role of Placental Non-Classical HLA and Decidual NK Cells.International journal of molecular sciences · 2026Review
- First-trimester multi-modal cell-free DNA analysis for prediction of preterm and term preeclampsia.AJOG global reports · 2026Article
- Toward generalizable prediction of cancer signal using a cell-free DNA language model.Cell reports. Medicine · 2026Article
- Serum biochemical and inflammatory biomarker profiles in severe preeclampsia and their clinical predictive value.Journal of medical biochemistry · 2026Article
- Cell-free DNA fragmentomics for preeclampsia risk assessment.Nature communications · 2026Article
- Revealing an enhanced cytotoxic immune microenvironment at the human maternal-fetal interface in preeclampsia.Cell biology and toxicology · 2026Article
- Cell-Based and Cell-Free Non-Invasive Prenatal Analysis of Preeclampsia: An Updated Review of Liquid Biopsy.Biomedicines · 2026Review
- Machine Learning for Dynamic and Short-Term Prediction of Preeclampsia Using Routine Clinical Data.JAMA network open · 2026Article
- Discovery and validation of GNA12Frontiers in neurology · 2026Article
- Threshold-dependent effect of the neutrophil-to-albumin ratio (NAR) in early pregnancy: a novel insight for preeclampsia risk prediction.American journal of translational research · 2026Article
- Association of Increased Fetal Fraction with Birthweight Discordance and Selective Fetal Growth Restriction: A Retrospective Study.International journal of women's health · 2026Article
- Artificial intelligence for early prediction of gestational diabetes mellitus and preeclampsia: a systematic review of machine learning models and clinical decision support systems.Frontiers in artificial intelligence · 2026Review
- Cell type inference in cell-free nucleic acid liquid biopsy.Nature biotechnology · 2025Review
- Genetic factors in the risk assessment of preeclampsia: a review of recent findings.Molecular biology reports · 2025Review
- Expanding the scope of non-invasive prenatal screening.Nature genetics · 2025Review
- Multi-omic insights of preeclampsia and cardiovascular health outcomes.Communications medicine · 2025Review
- Molecular Insights into Human Placentation: From Villous Morphogenesis to Pathological Pathways and Translational Biomarkers.International journal of molecular sciences · 2025Review
Corrections and comments
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Authors and funding
18 authors.
Funding
Abstract
Preeclampsia is characterized by placental dysfunction and results in significant morbidity, but reliable early prediction remains challenging. We investigated whether clinically obtained prenatal cell-free DNA (cfDNA) screening (PDNAS) using whole-genome sequencing (WGS) data can be leveraged to predict preeclampsia risk early in pregnancy (≤16 weeks). Using 1,854 routinely collected clinical PDNAS samples (median, 12.1 weeks) with low-coverage (0.5×) WGS data, we developed a framework to quantify maternal and fetal tissue signatures using nucleosome accessibility, revealing early placental and endothelial dysfunction. These signatures informed a prediction model for preeclampsia risk, which achieved a validation performance of 0.85 area under the receiver operating characteristic curve (AUC) (81% sensitivity at 80% specificity) for preterm phenotypes several months prior to disease onset in a separate cohort of 831 consecutively collected samples, and subsequently confirmed in an external cohort of 141 samples (AUC 0.84, 79% sensitivity). We demonstrate that assessment of cfDNA nucleosome accessibility from early-pregnancy cfDNA sequence data enables the detection of early placental and endothelial-tissue aberrations and may aid in the determination of preeclampsia risk.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.