ArticlePloS one2014
Quantification of cell-free DNA in normal and complicated pregnancies: overcoming biological and technical issues.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Guidelines for pre-analytical conditions for assessing the methylation of circulating cell-free DNA.Clinical epigenetics · 2021Pooled it
- Cell-free placental DNA: What do we really know?PLoS genetics · 2024Review
- Cell‑free fetal DNA at 11‑13 weeks of gestation is not altered in complicated pregnancies.Biomedical reports · 2024Article
- Integrating Artificial Intelligence for Advancing Multiple-Cancer Early Detection via Serum Biomarkers: A Narrative Review.Cancers · 2024Review
- Factors Affecting the Fetal Fraction in Noninvasive Prenatal Screening: A Review.Frontiers in pediatrics · 2022Review
- Optimization of Sources of Circulating Cell-Free DNA Variability for Downstream Molecular Analysis.The Journal of molecular diagnostics : JMD · 2021Article
- Droplet-based digital PCR for non-invasive prenatal genetic diagnosis of α and β-thalassemia.Biomedical reports · 2021Article
- Cell-free fetal DNA coming in all sizes and shapes.Prenatal diagnosis · 2021Review
- The emerging role of cell-free DNA as a molecular marker for cancer management.Biomolecular detection and quantification · 2019Review
- Utility of circulating tumor DNA in cancer diagnostics with emphasis on early detection.BMC medicine · 2018Article
- DNA Diagnostics for Schistosomiasis Control.Tropical medicine and infectious disease · 2018Review
- Impacts of bisphenol A (BPA) and phthalate exposures on epigenetic outcomes in the human placenta.Environmental epigenetics · 2018Article
- Cell-free fetal DNA and spontaneous preterm birth.Reproduction (Cambridge, England) · 2018Review
- Prenatal maternal plasma DNA screening for cystic fibrosis: A computer modelling study of screening performance.F1000Research · 2017Article
- Development and Evaluation of a Duplex Real-Time PCR Assay With a Novel Internal Standard for Precise Quantification of Plasma DNA.Annals of laboratory medicine · 2017Article
- Article
- Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin.PloS one · 2016Article
- Advances in the Diagnosis of Human Schistosomiasis.Clinical microbiology reviews · 2015Review
- Performance of Droplet Digital PCR in Non-Invasive Fetal RHD Genotyping - Comparison with a Routine Real-Time PCR Based Approach.PloS one · 2015Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
The characterization of cell-free DNA (cfDNA) originating from placental trophoblast in maternal plasma provides a powerful tool for non-invasive diagnosis of fetal and obstetrical complications. Due to its placental origin, the specific epigenetic features of this DNA (commonly known as cell-free fetal DNA) can be utilized in creating universal 'fetal' markers in maternal plasma, thus overcoming the limitations of gender- or rhesus-specific ones. The goal of this study was to compare the performance of relevant approaches and assays evaluating the amount of cfDNA in maternal plasma throughout gestation (7.2-39.5 weeks). Two fetal- or placental-specific duplex assays (RPP30/SRY and RASSF1A/β-Actin) were applied using two technologies, real-time quantitative PCR (qPCR) and droplet digital PCR (ddPCR). Both methods revealed similar performance parameters within the studied dynamic range. Data obtained using qPCR and ddPCR for these assays were positively correlated (total cfDNA (RPP30): R = 0.57, p = 0.001/placental cfDNA (SRY): R = 0.85, p<0.0001; placental cfDNA (RASSF1A): R = 0.75, p<0.0001). There was a significant correlation in SRY and RASSF1A results measured with qPCR (R = 0.68, p = 0.013) and ddPCR (R = 0.56, p = 0.039). Different approaches also gave comparable results with regard to the correlation of the placental cfDNA concentration with gestational age and pathological outcome. We conclude that ddPCR is a practical approach, adaptable to existing qPCR assays and well suited for analysis of cell-free DNA in plasma. However, it may need further optimization to surpass the performance of qPCR.
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