The Biology and Diagnostic Applications of Fetal DNA and RNA in Maternal Plasma

Chiu, Rossa W.̉K.; Lo, Y.M. Dennis

doi:10.1016/s0070-2153(04)61004-0

Cited by 35 publications

(30 citation statements)

References 144 publications

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“…45 Investigators have reported the aberrant increase in fetal DNA concentrations in the plasma of women whose pregnancy was complicated by preeclampsia, fetal aneuploidies, preterm labor, and so on. 46 However, those studies were based on the detection of Y-chromosomal sequences that could readily be distinguished from the maternal background DNA as fetal-derived, but limiting those potential applications to pregnancies involving male fetuses only. The bulk of the maternal DNA background has been hypothesized to be derived from the maternal blood cells whereas the placenta was the predominant source of fetal nucleic acids in maternal plasma.…”

Section: Discussionmentioning

confidence: 99%

Hypermethylation of RASSF1A in Human and Rhesus Placentas

Chiu

Chim

Wong

et al. 2007

The American Journal of Pathology

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The pseudomalignant nature of the placenta prompted us to search for tumor suppressor gene hypermethylation, a phenomenon widely reported in cancer, in the human placenta. Nine tumor suppressor genes were studied. Hypermethylation of the Ras association domain family 1 A (RASSF1A) gene was found in human placentas from all three trimesters of pregnancy but was absent in other fetal tissues. Hypermethylation of Rassf1 was similarly observed in placentas from the rhesus monkey but not the mouse.

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Section: Discussionmentioning

confidence: 99%

Hypermethylation of RASSF1A in Human and Rhesus Placentas

Chiu

Chim

Wong

et al. 2007

The American Journal of Pathology

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130

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“…Inactivation of tumor suppressor genes frequently occurs in a sequential process of genomic deletion of one allele and missense or nonsense mutation of the other allele in somatic cells (1 ). Cytogenetically undetectable deletions can be identified at the molecular level as loss of heterozygosity (LOH).…”

Section: Detection Of Loss Of Heterozygosity By Matrix-assistedmentioning

confidence: 99%

“…Several studies using quantitative real-time PCR to measure fetal DNA and mRNA in maternal plasma have suggested that their concentrations could indicate the presence of certain pregnancy-related disorders or predispositions to them (1 ). Significant increases in the median concentration of cell-free fetal DNA have been reported in pregnancies bearing aneuploid fetuses (2,3 ), in those affected by or at risk for preeclampsia (4 -8 ), or those with preterm labor (9 ).…”

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confidence: 99%

Circulatory Corticotropin-Releasing Hormone mRNA Concentrations Are Increased in Women with Preterm Delivery But Not in Those Who Respond to Tocolytic Treatment

et al. 2005

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Several studies using quantitative real-time PCR to measure fetal DNA and mRNA in maternal plasma have suggested that their concentrations could indicate the presence of certain pregnancy-related disorders or predispositions to them (1 ). Significant increases in the median concentration of cell-free fetal DNA have been reported in pregnancies bearing aneuploid fetuses (2, 3 ), in those affected by or at risk for preeclampsia (4 -8 ), or those with preterm labor (9 ). Fetally derived corticotropin-releasing hormone (CRH) mRNA is reportedly increased in pregnancies with manifest preeclampsia (10 ), and human chorionic gonadotropin ␤-subunit mRNA has been reported to be increased in pregnancies with aneuploid fetuses (11 ).In this study, we measured CRH mRNA by a real-time quantitative reverse transcription-PCR assay (10, 12 ) in women with preterm labor. Preterm delivery remains a leading cause of perinatal mortality, has an unchanged incidence of almost 7% over the past decade (13, 14 ), and has no known etiology. No test can identify those pregnant women with preterm contractions who will deliver prematurely and those who will respond to treatment (14 ).We performed a retrospective analysis of circulatory CRH mRNA concentrations in samples we had collected for the assessment of fetal cell trafficking in pregnancies with preterm labor (15 ). The definition of preterm labor was made in accordance with those of the Canadian preterm labor investigations group (14 ). All samples were collected at a median of 26 weeks of pregnancy (range, 19 -33 weeks). Tocolytic treatment was carried out with hexoprenalin, a ␤-sympathomometic (15 ). In addition, all women with preterm contractions received an in utero glucocorticoid application at the time of blood sampling to assist with fetal lung maturation (15 ). Exclusion criteria included pregnancies with known fetal malformations and those women who had received previous glucocorticoid treatment (15 ). Of the original study cohort, three cases had premature rupture of membranes, six cases had vaginal bleeding, and four fetuses were intrauterine growth retarded (15 ). No invasive procedures were performed during the time of the study (15 ).In our current analysis, of the 35 cases with preterm labor, 11 women delivered prematurely (median gestational age at delivery, 33 weeks), and 24 responded to tocolytic treatment and delivered at term (median gestational age at delivery, 38 weeks). Fifteen matched control cases who all delivered at term were included in our current analysis. mRNA was extracted from 800 L of plasma stored frozen at Ϫ80°C by use of TRIzol LS Reagent (Invitrogen) and commercial column technology (Qiagen). CRH mRNA concentrations were quantified by real-time reverse transcription-PCR as described previously; results are reported in copies per mL of maternal plasma (10,12 ). The data were analyzed by use of SPSS for Windows, and the Mann-Whitney U-test was used to determine significance of differences between the study and control groups (9 ). The results are pr...

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“…Consequently, these are already being offered as a clinical service for these loci by a number of European and US American centers (Chiu and Lo, 2004;van der Schoot et al, 2008).…”

Section: Introductionmentioning

confidence: 99%

Untitled

2008

Prenatal Diagnosis

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Recent reports have indicated that digital PCR may be useful for the noninvasive detection of fetal aneuploidies by the analysis of cell-free DNA and RNA in maternal plasma or serum. In this review we provide an insight into the underlying technology and its previous application in the determination of the allelic frequencies of oncogenic alterations in cancer specimens. We also provide an indication of how this new technology may prove useful for the detection of fetal aneuploidies and single gene Mendelian disorders.

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The Biology and Diagnostic Applications of Fetal DNA and RNA in Maternal Plasma

Cited by 35 publications

References 144 publications

Hypermethylation of RASSF1A in Human and Rhesus Placentas

Hypermethylation of RASSF1A in Human and Rhesus Placentas

Circulatory Corticotropin-Releasing Hormone mRNA Concentrations Are Increased in Women with Preterm Delivery But Not in Those Who Respond to Tocolytic Treatment

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