Prenatal diagnosis using cell‐free nucleic acids in maternal body fluids: A decade of progress

Maron, Jill L.; Bianchi, Diana W.

doi:10.1002/ajmg.c.30115

Cited by 73 publications

(51 citation statements)

References 141 publications

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“…A recent review of large-scale studies reporting on the non-invasive determination of foetal RHD status by the real-time PCR analysis of cell-free DNA indicated that accuracies between 95 and 99% could be attained [14]. As such, our data yielding an overall accuracy of 96.1% concur favourably with those obtained by real-time PCR.…”

Section: Discussionsupporting

confidence: 79%

High throughput non-invasive determination of foetal Rhesus D status using automated extraction of cell-free foetal DNA in maternal plasma and mass spectrometry

Grill

Banzola

et al. 2008

Arch Gynecol Obstet

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Purpose To examine the potential high throughput capability and eYciency of an automated DNA extraction system in combination with mass spectrometry for the noninvasive determination of the foetal Rhesus D status. Methods A total of 178 maternal plasma samples from RHD-negative pregnant women were examined, from which DNA was extracted using the automated Roche MagNA Pure™ system. Presence of the foetal RHD gene was detected by PCR for RHD exon 7 and subsequent analysis using the Sequenom MassArray™ mass spectrometric system. Results We determined that as little as 15 pg of RHD-positive genomic DNA could be detected in a background of 585 pg of RHD-negative genomic DNA. The analysis of the clinical samples yielded a sensitivity and speciWcity of 96.1 and 96.1%, respectively. Conclusion Our study indicated that automated DNA extraction in combination with mass spectrometry permits the determination of foetal Rhesus D genotype with an accuracy comparable to the current approaches using realtime PCR.

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Section: Discussionsupporting

confidence: 79%

High throughput non-invasive determination of foetal Rhesus D status using automated extraction of cell-free foetal DNA in maternal plasma and mass spectrometry

Grill

Banzola

et al. 2008

Arch Gynecol Obstet

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“…The overwhelming majority of the literature examining fetal nucleic acid trafficking cites the placenta as the major source of fetal transcripts and utilizes plasma for their detection (21). Although some of the gene transcripts identified in this whole blood analysis were expressed in placental tissue, including placental-specific 1 (PLAC1), we did not identify other previously documented placental transcripts (PL, CRH, or hCGB) in maternal whole blood.…”

Section: Figurecontrasting

confidence: 59%

Gene expression analysis in pregnant women and their infants identifies unique fetal biomarkers that circulate in maternal blood

Maron¹,

Johnson²,

Slonim³

et al. 2007

J. Clin. Invest.

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The discovery of fetal mRNA transcripts in the maternal circulation holds great promise for noninvasive prenatal diagnosis. To identify potential fetal biomarkers, we studied whole blood and plasma gene transcripts that were common to 9 term pregnant women and their newborns but absent or reduced in the mothers postpartum. RNA was isolated from peripheral or umbilical blood and hybridized to gene expression arrays. Gene expression, paired Student's t test, and pathway analyses were performed. In whole blood, 157 gene transcripts met statistical significance. These fetal biomarkers included 27 developmental genes, 5 sensory perception genes, and 22 genes involved in neonatal physiology. Transcripts were predominantly expressed or restricted to the fetus, the embryo, or the neonate. Real-time RT-PCR amplification confirmed the presence of specific gene transcripts; SNP analysis demonstrated the presence of 3 fetal transcripts in maternal antepartum blood. Comparison of whole blood and plasma samples from the same pregnant woman suggested that placental genes are more easily detected in plasma. We conclude that fetal and placental mRNA circulates in the blood of pregnant women. Transcriptional analysis of maternal whole blood identifies a unique set of biologically diverse fetal genes and has a multitude of clinical applications.

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“…37 Therefore, quantification of fetal cfDNA concentrations in maternal plasma has potential for monitoring pregnancy associated-disorders, including preeclampsia. Initial studies reported a five-fold increase in plasma fetal cfDNA concentrations in women with preeclampsia (mean gestational age ͓MGA͔ 32 weeks) compared to control pregnant women.…”

Section: Discussionmentioning

confidence: 99%

Membrane Protected Apoptotic Trophoblast Microparticles Contain Nucleic Acids

Orozco

Jorgez

Horne

et al. 2008

The American Journal of Pathology

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Microparticles (MPs) that circulate in blood may be a source of DNA for molecular analyses, including prenatal genetic diagnoses. Because MPs are heterogeneous in nature, however, further characterization is important before use in clinical settings. One key question is whether DNA is either bound to aggregates of blood proteins and lipid micelles or intrinsically associated with MPs from dying cells. To test the latter hypothesis, we asked whether MPs derived in vitro from dying cells were similar to those in maternal plasma. JEG-3 cells model extravillous trophoblasts, which predominate during the first trimester of pregnancy when prenatal diagnosis is most relevant. MPs were derived from apoptosis and increased over 48 hours. Compared with necrotic MPs, DNA in apoptotic MPs was more fragmented and resistant to plasma DNases. Membrane-specific dyes indicated that apoptotic MPs had more membranous material, which protects nucleic acids, including RNA. Flow cytometry showed that MPs derived from dying cells displayed light scatter and DNA staining similar to MPs found in maternal plasma. Quantification of maternal MPs using characteristics defined by MPs generated in vitro revealed a significant increase of DNA ؉ MPs in the plasma of women with preeclampsia compared with plasma from women with normal pregnancies. Apoptotic MPs are therefore a likely source of stable DNA that could be enriched for both early genetic diagnosis and monitoring of pathological pregnancies. (Am J

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Prenatal diagnosis using cell‐free nucleic acids in maternal body fluids: A decade of progress

Cited by 73 publications

References 141 publications

High throughput non-invasive determination of foetal Rhesus D status using automated extraction of cell-free foetal DNA in maternal plasma and mass spectrometry

High throughput non-invasive determination of foetal Rhesus D status using automated extraction of cell-free foetal DNA in maternal plasma and mass spectrometry

Gene expression analysis in pregnant women and their infants identifies unique fetal biomarkers that circulate in maternal blood

Membrane Protected Apoptotic Trophoblast Microparticles Contain Nucleic Acids

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