Fetal Rhesus D mRNA Is Not Detectable in Maternal Plasma

Chiu, Rossa W.̉K.; Chan, Carol W.M.; Zhong, Xiao Yan; Lapaire, Olav; Holzgreve, Wolfgang; Hahn, Sinuhe; Lo, Y.M. Dennis

doi:10.1373/clinchem.2005.056937

Cited by 4 publications

(3 citation statements)

References 7 publications

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“…Developments in the noninvasive analysis of fetal nucleic acids have begun to transform the clinical practice of prenatal care. For example, methods for the detection of paternally inherited fetal alleles in maternal plasma are so robust that they are now widely used for the prediction of fetal Rhesus D blood‐group status and have also been used for the diagnosis of paternally inherited thalassemia and achondroplasia . Not surprisingly, there is considerable interest in the development of similar methods for the noninvasive detection of fetal aneuploidy and recessive monogenic diseases.…”

Section: Introductionmentioning

confidence: 99%

Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease

et al. 2012

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Objectives The primary goal of this study was to identify CpG sites in the human genome that are differentially methylated in DNA obtained from chorionic villus sampling (CVS) samples and gestational age‐matched maternal blood cell (MBC) samples. Methods We used the HumanMethylation27 DNA Analysis BeadChip to characterize DNA methylation in samples of CVS and MBC. We then selected a subset of differentially methylated CpG sites on chromsome 13 and subjected them to analysis by mass spectrometry using the Epityper platform. Results We identified 718 tissue‐specific differentially methylated regions (DMRs) between MBC and CVS; 563 of these were hypermethylated in MBC and hypomethylated in CVS, whereas 155 sites were hypomethylated in MBC and hypermethylated in CVS. Further analysis of 13 DMRs on chromosome 13 by Epityper confirmed the microarray data and provided us with additional data about the methylation patterns of surrounding CpG sites. Conclusions Analysis of the resulting data identified a large number of cytosine‐guanine dinucleotides that are potential biomarkers for the selective amplification of fetal DNA from maternal plasma and the subsequent noninvasive detection of trisomy 13. © 2012 John Wiley & Sons, Ltd.

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Section: Introductionmentioning

confidence: 99%

Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease

et al. 2012

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“…For example, methods for the detection of paternally inherited fetal alleles in maternal plasma are so robust that they are now widely used for the prediction of fetal Rhesus D blood group status 32–34 and have also been used for the diagnosis of paternally inherited thalassemia and achondroplasia 35–37 . More recently, proof of concept manuscripts have appeared that describe the use of targeted genomic sequencing and maternal haplotype data 38 .…”

Section: Non-invasive Prenatal Testing: the Existing Standardmentioning

confidence: 99%

Recent advances of genomic testing in perinatal medicine

Peters

Yatsenko

Surti

et al. 2015

Seminars in Perinatology

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Rapid progress in genomic medicine in recent years has made it possible to diagnose subtle genetic abnormalities in a clinical setting on routine basis. This has allowed for detailed genotypephenotype correlations and the identification of the genetic basis of many congenital anomalies. In addition to the availability of chromosomal microarray analysis, exome and whole genome sequencing on pre-and postnatal samples of cell free DNA has revolutionized the field of prenatal diagnosis. Incorporation of these technologies in perinatal pathology is bound to play a major role in coming years. In this communication, we briefly present the current experience with use of classical chromosome analysis, fluorescence in situ hybridization, and microarray testing, development of whole genome analysis by next generation sequencing technology, offer a detailed review of the history and current status of noninvasive prenatal testing using cell free DNA, and discuss the advents of these new genomic technologies in perinatal medicine. G-banding chromosome analysisFor several decades, traditional G-banding chromosome analysis has been an integral part of clinical work up of many neonatal deaths, still births, pregnancy losses in the first and second trimester, as well as prenatal diagnosis using amniocentesis and chorionic villus sampling. Approximately 30% of miscarriages result from aneuploidy and at least 0.3% of newborns have numerical chromosome abnormalities, which can be detected by traditional karyotyping 1 . Classical chromosome analysis enables the detection of large genomic alterations (Fig 1A), including triploidy, aneusomy, balanced and unbalanced chromosomal

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“…This circulating fetal DNA is thought to be of trophoblast origin and is present in maternal plasma at a genome equivalent frequency of between ∼3-10% (Fan et al, 2008;Lo, 2009). Practical applications of the analysis of fetal DNA in maternal plasma are growing and are perhaps best exemplified by successful non-invasive prediction of fetal Rhesus D blood group status (Chiu et al, 2005;Lo, 1999Lo, , 2000, the diagnosis of other paternally inherited mutations causing, for example, thalassemia and achondroplasia (Li et al, 2005(Li et al, , 2006(Li et al, , 2007 and the detection of trisomy 18 via methylation-specific PCR of polymorphic fetal alleles.…”

Section: Introductionmentioning

confidence: 99%

Statistical considerations for digital approaches to non-invasive fetal genotyping

et al. 2010

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With this in mind, we have undertaken a statistical modeling of three contemporary (digital) analytical methods in the context of prenatal diagnosis using cell free DNA for monogenic diseases that segregate in a recessive mendelian fashion. We provide an experimental framework for the future development of diagnostic methods in this context that should be considered when designing molecular assays that seek to establish proof of concept in this field.

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Fetal Rhesus D mRNA Is Not Detectable in Maternal Plasma

Cited by 4 publications

References 7 publications

Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease

Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease

Recent advances of genomic testing in perinatal medicine

Statistical considerations for digital approaches to non-invasive fetal genotyping

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