Cell-free Fetal DNA in Maternal Circulation after Amniocentesis

Samura, Osamu; Miharu, Norio; Hyodo, Maki; Honda, Hiroshi; Ohashi, Yoko; Honda, Nao; Hara, Tetsuaki; Ohama, Koso

doi:10.1373/49.7.1193

Cited by 32 publications

(27 citation statements)

References 19 publications

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“…Because these invasive procedures disrupt the interface between the placenta and maternal circulation, there have been discussions whether the amount of fetal DNA in maternal blood might increase after invasive procedures. Neither of the studies to date have observed a significant effect (41,42). Our results support this conclusion, because using the digital PCR assay, we estimated that fetal DNA constituted Յ10% of total cell-free DNA in the majority of our maternal plasma samples.…”

Section: Discussionmentioning

confidence: 98%

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

Fan

Blumenfeld

Chitkara

et al. 2008

Proc. Natl. Acad. Sci. U.S.A.

980

831

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We directly sequenced cell-free DNA with high-throughput shotgun sequencing technology from plasma of pregnant women, obtaining, on average, 5 million sequence tags per patient sample. This enabled us to measure the over-and underrepresentation of chromosomes from an aneuploid fetus. The sequencing approach is polymorphismindependent and therefore universally applicable for the noninvasive detection of fetal aneuploidy. Using this method, we successfully identified all nine cases of trisomy 21 (Down syndrome), two cases of trisomy 18 (Edward syndrome), and one case of trisomy 13 (Patau syndrome) in a cohort of 18 normal and aneuploid pregnancies; trisomy was detected at gestational ages as early as the 14th week. Direct sequencing also allowed us to study the characteristics of cell-free plasma DNA, and we found evidence that this DNA is enriched for sequences from nucleosomes.fetal DNA ͉ next-generation sequencing ͉ noninvasive prenatal diagnosis ͉ Down syndrome ͉ trisomy

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Section: Discussionmentioning

confidence: 98%

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

Fan

Blumenfeld

Chitkara

et al. 2008

Proc. Natl. Acad. Sci. U.S.A.

980

831

View full text Add to dashboard Cite

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“…The median gestational age of the T21 group (18 weeks) was in fact older than that of the euploid group (12 weeks). As fetal DNA release into the maternal circulation increases significantly within the immediate period of invasive procedures (30) and with pregnancy progression, the potential confounding effects of these factors need to be considered. Nonetheless, the report by Fan et al and our study independently demonstrate the feasibility of MPGS for noninvasive prenatal diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

Chiu

Chan

Gao

et al. 2008

Proc. Natl. Acad. Sci. U.S.A.

826

758

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Chromosomal aneuploidy is the major reason why couples opt for prenatal diagnosis. Current methods for definitive diagnosis rely on invasive procedures, such as chorionic villus sampling and amniocentesis, and are associated with a risk of fetal miscarriage. Fetal DNA has been found in maternal plasma but exists as a minor fraction among a high background of maternal DNA. Hence, quantitative perturbations caused by an aneuploid chromosome in the fetal genome to the overall representation of sequences from that chromosome in maternal plasma would be small. Even with highly precise single molecule counting methods such as digital PCR, a large number of DNA molecules and hence maternal plasma volume would need to be analyzed to achieve the necessary analytical precision. Here we reasoned that instead of using approaches that target specific gene loci, the use of a locus-independent method would greatly increase the number of target molecules from the aneuploid chromosome that could be analyzed within the same fixed volume of plasma. Hence, we used massively parallel genomic sequencing to quantify maternal plasma DNA sequences for the noninvasive prenatal detection of fetal trisomy 21. Twenty-eight first and second trimester maternal plasma samples were tested. All 14 trisomy 21 fetuses and 14 euploid fetuses were correctly identified. Massively parallel plasma DNA sequencing represents a new approach that is potentially applicable to all pregnancies for the noninvasive prenatal diagnosis of fetal chromosomal aneuploidies.Down syndrome ͉ Solexa sequencing ͉ trisomy 21

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“…Second, the T21 and T18 cases had been subjected to invasive prenatal testing before blood sampling for evaluation of the authors' DNA analysis. This point is important because there is ongoing discussion regarding the possibility that invasive testing might lead to increased release of fetal DNA into the maternal circulation [11], potentially biasing the results. Finally, and most importantly, Sparks et al described the use of normalization processes on their raw data [10].…”

Section: Discussionmentioning

confidence: 99%

Noninvasive fetal trisomy 21 detection using chromosome-selective sequencing: a variation of the molecular counting theme

Lo¹,

Chan

Chiu

2012

Expert Review of Molecular Diagnostics

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Fetal DNA is present in the plasma of pregnant women. A fetus with trisomy of a chromosome will release an increased amount of DNA from that chromosome into maternal plasma. Such an increase has previously been measured using methods that allow individual DNA molecules to be counted. One such method involves the use of random massively parallel sequencing of maternal plasma DNA. As the sequencing process is random, sequence tags from a potentially aneuploid chromosome only represent a fraction of the sequencing data. The performance of selective amplification and sequencing of specific genomic regions is a recently reported approach for focusing the sequencing power onto genomic regions of diagnostic interest. This article provides a critical analysis of this approach and puts this method in the perspective of other recent works in the field.

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Cell-free Fetal DNA in Maternal Circulation after Amniocentesis

Cited by 32 publications

References 19 publications

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

Noninvasive fetal trisomy 21 detection using chromosome-selective sequencing: a variation of the molecular counting theme

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