Fetal DNA in maternal circulation of first-trimester spontaneous abortions

Skinner, Juliet; Luettich, Karsta; Ring, Martina; O’Leary, John; Turner, Michael J.

doi:10.1016/s0029-7844(00)01173-x

Cited by 14 publications

(14 citation statements)

References 18 publications

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“…In the present study, we also found that cell-free fetal DNA and cell-free total DNA levels were significantly increased in SA cases compared to controls. These results were consistent with those from previous studies [15], [16]. Additionally, we demonstrated that the use of cell-free fetal DNA and cell-free total DNA was more informative in predicting SA with fetal chromosomal aneuploidy than SA with fetal normal karyotype.…”

Section: Discussionsupporting

confidence: 92%

“…Prior studies have reported that an increase in cell-free total DNA, as well as cell-free fetal DNA, is associated with SA [15], [16]. This increase in cell-free total DNA may be induced by the release of circulating factors into maternal circulation, which can result in damage to maternal vascular endothelial cells and multi-system dysfunction [10].…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, this characteristic of the DYS14 marker might have a considerable effect on the high-false positive rate in prediction of SA using cell-free fetal DNA. Moreover, prior studies are limited to prediction of SA in male fetuses because markers specific to the Y chromosome, such as DYS14 and SRY , were used in the measurement of cell-free fetal DNA [15], [16].…”

Section: Discussionmentioning

confidence: 99%

“…In previous studies, it was reported that cell-free fetal DNA and cell-free total DNA increased in association with various pregnancy-associated complications including pre-eclampsia, intrauterine growth restriction, preterm labor, placenta accreta, invasive placenta, fetomaternal hemorrhage and intrauterine fetal death [8]–[14]. Specifically, the maternal plasma levels of cell-free fetal DNA and cell-free total DNA were increased by about 4∼5 fold in pregnant women with SA compared with normal pregnant women [15], [16]. Therefore, cell-free fetal DNA and cell-free total DNA in maternal circulation have been suggested as valuable indicators for noninvasive diagnosis and prognosis of SA.…”

Section: Introductionmentioning

confidence: 99%

“…Therefore, cell-free fetal DNA and cell-free total DNA in maternal circulation have been suggested as valuable indicators for noninvasive diagnosis and prognosis of SA. However, in prior studies, prediction of SA has been limited to pregnant women with a male fetus due to the use of markers specific to the Y chromosome, such as DYS14 and SRY , in the measurement of cell-free fetal DNA [15], [16]. Moreover, the correlation of and change in cell-free fetal DNA and cell-free total DNA in SA with fetal chromosomal aneuploidy have not yet been reported.…”

Section: Introductionmentioning

confidence: 99%

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Cell-Free Fetal DNA and Cell-Free Total DNA Levels in Spontaneous Abortion with Fetal Chromosomal Aneuploidy

et al. 2013

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BackgroundCell-free fetal DNA and cell-free total DNA in maternal circulation have been proposed as potential markers for noninvasive monitoring of the placental condition during the pregnancy. However, the correlation of and change in cell-free fetal DNA and cell-free total DNA in spontaneous abortion (SA) with fetal chromosomal aneuploidy have not yet been reported. Therefore, we investigated cell-free fetal DNA and cell-free total DNA levels in SA women with fetal chromosomal aneuploidy.Methodology/Principal FindingsA nested case-control study was conducted with maternal plasma collected from 268 women in their first trimester of pregnancy. Subjects included 41 SA with normal fetal karyotype, 26 SA with fetal chromosomal aneuploidy, and 201 normal controls. The unmethylated PDE9A gene was used to measure the maternal plasma levels of cell-free fetal DNA. The GAPDH gene was used to measure the maternal plasma levels of cell-free total DNA. The diagnostic accuracy was measured using receiver-operating characteristic (ROC) curves. Levels of cell-free fetal DNA and cell-free total DNA were significantly higher in both SA women with normal fetal karyotype and SA women with fetal chromosomal aneuploidy in comparison with the normal controls (P<0.001 in both). The correlation between cell-free fetal DNA and cell-free total DNA levels was stronger in the normal controls (r = 0.843, P<0.001) than in SA women with normal karyotype (r = 0.465, P = 0.002) and SA women with fetal chromosomal aneuploidy (r = 0.412, P = 0.037). The area under the ROC curve for cell-free fetal DNA and cell-free total DNA was 0.898 (95% CI, 0.852–0.945) and 0.939 (95% CI, 0.903–0.975), respectively.ConclusionsSignificantly high levels of cell-free fetal DNA and cell-free total DNA were found in SA women with fetal chromosomal aneuploidy. Our findings suggest that cell-free fetal DNA and cell-free total DNA may be useful biomarkers for the prediction of SA with fetal chromosomal aneuploidy, regardless of fetal gender.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Cell-Free Fetal DNA and Cell-Free Total DNA Levels in Spontaneous Abortion with Fetal Chromosomal Aneuploidy

et al. 2013

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

Maron

Bianchi

2007

American J of Med Genetics Pt C

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The ability to detect cell-free fetal nucleic acids in pregnant women has greatly evolved over the past decade. Dozens of papers have explored the biology, kinetics, and clinical significance of both cell-free fetal DNA and mRNA in the maternal circulation. As a result, our overall understanding of fetal nucleic acid trafficking has expanded. To date, two applications, gender determination and fetal RhD status, have translated into clinical medicine. However, with advanced molecular techniques such as mass spectrometry, real-time quantitative polymerase chain reaction, and gene expression arrays, the ease with which fetal genes can be detected within the mother has greatly improved. Newly identified placental and fetal mRNA transcripts as well as an epigenetically modified placental DNA marker, maspin, have universal applicability. Global expression analyses of fetal mRNA in both amniotic fluid and blood provide new insights into fetal development and pathology. Prenatal diagnosis is poised to evolve from detection of aneuploidy to detection of deviation from normal development, which should provide novel opportunities for fetal treatment. ß 2007 Wiley-Liss, Inc.

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Fetal microchimerism is not involved in the pathogenesis of lichen sclerosus of the vulva

Bauer¹,

Weger²,

Orescovic³

et al. 2006

Prenat. Diagn.

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Fetal DNA in maternal circulation of first-trimester spontaneous abortions

Abstract: Fetal DNA is present in the maternal circulation of first-trimester spontaneous abortions.

Cited by 14 publications

References 18 publications

Cell-Free Fetal DNA and Cell-Free Total DNA Levels in Spontaneous Abortion with Fetal Chromosomal Aneuploidy

Cell-Free Fetal DNA and Cell-Free Total DNA Levels in Spontaneous Abortion with Fetal Chromosomal Aneuploidy

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

Fetal microchimerism is not involved in the pathogenesis of lichen sclerosus of the vulva

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