ArticleBMC medical genomics2019
Detection of fetal trisomy and single gene disease by massively parallel sequencing of extracellular vesicle DNA in maternal plasma: a proof-of-concept validation.
Article in BMC medical genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 3 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 3 syntheses or guidelines pooled it, 21 citations in OpenAlex.
- MicroRNA Expression in Endometrial Cancer: Current Knowledge and Therapeutic Implications.Medicina (Kaunas, Lithuania) · 2024Pooled it
- Liquid Biopsy in Endometriosis: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Role of Extracellular Vesicles in Epithelial Ovarian Cancer: A Systematic Review.International journal of molecular sciences · 2020Pooled it
- Reappraising the topology of cell-free fetal DNA in maternal blood toward improved prenatal genetic diagnostics.Science advances · 2026Review
- Early non-invasive epigenetic approach for assessing trisomy risk in maternal plasma.Frontiers in medicine · 2026Article
- Cell-free placental DNA: What do we really know?PLoS genetics · 2024Review
- Exploring the potential of in vitro extracellular vesicle generation in reproductive biology.Journal of extracellular biology · 2024Review
- Circulating extracellular vesicles in healthy and pathological pregnancies: A scoping review of methodology, rigour and results.Journal of extracellular vesicles · 2023Article
- EV-ADD, a database for EV-associated DNA in human liquid biopsy samples.Journal of extracellular vesicles · 2022Article
- DNA in extracellular vesicles: from evolution to its current application in health and disease.Cell & bioscience · 2022Review
- Review
- Omics Approaches to Study Formation and Function of Human Placental Syncytiotrophoblast.Frontiers in cell and developmental biology · 2021Review
- Role of Maternal Infections and Inflammatory Responses on Craniofacial Development.Frontiers in oral health · 2021Review
- Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review.Genes · 2020Review
- Tetraspanins, More than Markers of Extracellular Vesicles in Reproduction.International journal of molecular sciences · 2020Review
- Characterizing Extracellular Vesicles and Their Diverse RNA Contents.Frontiers in genetics · 2020Review
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDuring human pregnancy, placental trophectoderm cells release extracellular vesicles (EVs) into maternal circulation. Trophoblasts also give rise to cell-free DNA (cfDNA) in maternal blood, and has been used for noninvasive prenatal screening for chromosomal aneuploidy. We intended to prove the existence of DNA in the EVs (evDNA) of maternal blood, and compared evDNA with plasma cfDNA in terms of genome distribution, fragment length, and the possibility of detecting genetic diseases.
methodsMaternal blood from 20 euploid pregnancies, 9 T21 pregnancies, 3 T18 pregnancies, 1 T13 pregnancy, and 2 pregnancies with FGFR3 mutations were obtained. EVs were separated from maternal plasma, and confirmed by transmission electronic microscopy (TEM), western blotting, and flow cytometry (FACS). evDNA was extracted and its fetal origin was confirmed by quantitative PCR (qPCR). Pair-end (PE) whole genome sequencing was performed to characterize evDNA, and the results were compared with that of cfDNA. The fetal risk of aneuploidy and monogenic diseases was analyzed using the evDNA sequencing data.
resultsEVs separated from maternal plasma were confirmed with morphology by TEM, and protein markers of CD9, CD63, CD81 as well as the placental specific protein placental alkaline phosphatase (PLAP) were confirmed by western blotting or flow cytometry. EvDNA could be successfully extracted for qPCR and sequencing from the plasma EVs. Sequencing data showed that evDNA span on all 23 pairs of chromosomes and mitochondria, sharing a similar distribution pattern and higher GC content comparing with cfDNA. EvDNA showed shorter fragments yet lower fetal fraction than cfDNA. EvDNA could be used to correctly determine fetal gender, trisomies, and de novo FGFR3 mutations.
conclusionsWe proved that fetal DNA could be detected in EVs separated from maternal plasma. EvDNA shared some similar features to plasma cfDNA, and could potentially be used to detect genetic diseases in fetus.
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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.