Cell-free fetal DNA and adverse outcome in low risk pregnancies

Stein, W.; Müller, S; Gutensohn, K.; Emons, Günter; Legler, Tobias J.

doi:10.1016/j.ejogrb.2012.09.006

Cited by 36 publications

(29 citation statements)

References 17 publications

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“…Crowley et al [34] did not find increased cffDNA levels before 20 weeks of gestation, and Bauer et al's results were inconclusive [35]. Stein et al [36] also reported no alterations of cffDNA levels in the second trimester in pregnancies with PE. In the present study, the median levels and MoM values of cffDNA ( DSCR3 and RASSF1A genes) at 6-14 and 15-23 weeks were not significantly different between the PE and control groups.…”

Section: Discussionmentioning

confidence: 81%

Early Prediction of Hypertensive Disorders of Pregnancy Using Cell-Free Fetal DNA, Cell-Free Total DNA, and Biochemical Markers

Kim

Kim²,

Park³

et al. 2016

Fetal Diagn Ther

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Objective: To evaluate the predictive value of separate and combined tests using cell-free fetal DNA (cffDNA), cell-free total DNA (cfDNA), and biochemical markers for the early detection of pregnancies with hypertensive disorders. Methods: A nested case-control study was conducted with 135 singleton pregnancies including 17 gestational hypertension cases, 34 preeclampsia (PE) cases, and 84 controls. We performed real-time quantitative PCR to measure levels of DSCR3 and RASSF1A as cffDNA markers and HYP2 as a cfDNA marker in the first and early second trimesters. Levels of pregnancy-associated plasma protein A (PAPP-A), α-fetoprotein, β-human chorionic gonadotropin, unconjugated estriol, and inhibin A were also determined. Results: Compared with controls, the median levels and multiples of the median (MoM) values of HYP2 were significantly higher in the PE and hypertensive disorders of pregnancy (HDP) groups at 6-14 and 15-23 weeks. Frist-trimester PAPP-A MoM was significantly lower in PE and HDP than in controls. For PE and HDP, the best model included the first-trimester DSCR3, HYP2, and PAPP-A MoM values achieving detection rates of 67 and 58% at a fixed 10% false-positive rate, respectively [area under the receiver operating characteristic curve 0.832 (95% CI 0.689-0.928) for PE; 0.751 (0.607-0.863) for HDP]. Discussion: The study demonstrates the potential utility of combined first-trimester cffDNA, cfDNA, and PAPP-A for the early prediction of PE.

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Section: Discussionmentioning

confidence: 81%

Early Prediction of Hypertensive Disorders of Pregnancy Using Cell-Free Fetal DNA, Cell-Free Total DNA, and Biochemical Markers

Kim

Kim²,

Park³

et al. 2016

Fetal Diagn Ther

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“…Second trimester cell-free fetal DNA levels in the maternal circulation have been evaluated as a screening tool in asymptomatic, low risk pregnancies to identify patients that may be at higher risk of developing complications. While some studies have found these levels useful in predicting patients that will develop preterm delivery [28] and preeclampsia [27, 37], others have not [38]. …”

Section: Pregnancymentioning

confidence: 99%

Maternal–fetal cellular trafficking

Jeanty

Derderian

MacKenzie

2014

Current Opinion in Pediatrics

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Purpose of review Maternal-fetal cellular trafficking (MFCT) is the bidirectional passage of cells between mother and fetus during pregnancy. This results in the presence of fetal cells in the maternal circulation, known as fetal microchimerism, and maternal cells in the fetal circulation, known as maternal microchimerism. The biologic role of this bidirectional passage of cells during pregnancy is not known, although it has been implicated in development of the fetal immune system, tolerance mechanisms during pregnancy, tissue repair in autoimmune disease and cancer, and immune surveillance. Recent findings Clinical utility of MFCT has been identified in prenatal testing for aneuploidies and prediction of pregnancy complications. Additionally, this transplacental passage of cells has been implicated in the delicate balance between immunologic priming and tolerance which can influence the occurrence of autoimmune disease and transplantation outcomes. Ongoing studies are evaluating the utility of microchimerism in predicting the risk of graft rejection in transplantation. Summary In this review, we will discuss the clinical implications of MFCT in pregnancy, fetal surgery, autoimmune disease, transplantation, and cancer.

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“…However, there can be technical confounders in the quantification of cfDNA, including storage conditions or processing delay before plasma separation [14]–[16], DNA extraction method [17]–[20], amplicon size and target gene choice [21]–[23]. Moreover, there are no generally accepted units of measure for cfDNA quantification; in the literature data are presented in genome equivalents per mL of plasma (GE/mL) [21], [24]–[27] or its logged equivalent [27], median C T [28], [29], percent value to total cfDNA [30], [31] or multiple of median (MoM) [11]. This inconsistency complicates the data analysis, comparability and reproducibility of the tests.…”

Section: Introductionmentioning

confidence: 99%

Quantification of Cell-Free DNA in Normal and Complicated Pregnancies: Overcoming Biological and Technical Issues

et al. 2014

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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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Cell-free fetal DNA and adverse outcome in low risk pregnancies

Cited by 36 publications

References 17 publications

Early Prediction of Hypertensive Disorders of Pregnancy Using Cell-Free Fetal DNA, Cell-Free Total DNA, and Biochemical Markers

Early Prediction of Hypertensive Disorders of Pregnancy Using Cell-Free Fetal DNA, Cell-Free Total DNA, and Biochemical Markers

Maternal–fetal cellular trafficking

Quantification of Cell-Free DNA in Normal and Complicated Pregnancies: Overcoming Biological and Technical Issues

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