Digital PCR: a powerful new tool for noninvasive prenatal diagnosis?

@article{Zimmermann2008DigitalPA,
  title={Digital PCR: a powerful new tool for noninvasive prenatal diagnosis?},
  author={Bernhard G. Zimmermann and Simon Grill and Wolfgang Holzgreve and Xiao Yan Zhong and Laird G. Jackson and Sinuhe Hahn},
  journal={Prenatal Diagnosis},
  year={2008},
  volume={28}
}
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… 
Noninvasive prenatal diagnosis of fetal aneuploidies and Mendelian disorders: new innovative strategies
The application of recent technical developments, such as digital PCR or shot-gun sequencing, for the analysis of cell-free fetal DNA, have indicated that the long-sought goal of the noninvasive
Non-invasive Prenatal Diagnosis: An Epigenetic Approach to the Detection of Common Fetal Chromosome Disorders by Analysis of Maternal Blood Samples
We describe results obtained by Methylated DNA immunoprecipitation (MeDiP) in combination with high resolution oligonucleotide microarray analysis to enable chromosome-wide identification of DNA
Noninvasive prenatal diagnosis of Down syndrome: current knowledge and novel insights
TLDR
An overview of the current knowledge in the field of noninvasive prenatal assessment of fetuses with Down syndrome and the future perspectives regarding new fetal markers and novel molecular techniques that may eventually be applied in the clinical setting are presented.
Non-invasive prenatal diagnosis.
TLDR
Using real-time PCR, fluorescently labelled target gene specific probes can identify and quantify low copy number fetal-specific sequences in a high background of maternal DNA in the cell-free DNA extracted from maternal plasma.
Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment?
TLDR
This review seeks to highlight the necessity of investing in non invasive prenatal diagnosis (NIPD) and how NIPD would improve patient safety and detection rate as well as allowing detection earlier in pregnancy.
Prenatal diagnosis of fetal aneuploidies: post-genomic developments
TLDR
It is hoped that, with the assistance of cutting-edge tools such as digital PCR or next generation sequencing, the long elusive goal of non-invasive prenatal diagnosis for fetal aneuploidies can finally be attained.
Determination of fetal chromosome aberrations from fetal DNA in maternal blood: has the challenge finally been met?
TLDR
Targeted NGS does appear to be a step in the right direction, although this should be seen in the context of ongoing progress with the isolation of fetal cells and with proteomic screening markers.
Molecular prenatal diagnosis: the impact of modern technologies
TLDR
The history of molecular prenatal diagnostic testing is reviewed, and how over the last 30 years it has moved from offering testing to a few affected individuals using techniques, to more rapid and accurate PCR‐based testing which identifies the precise change in dystrophin for a greater number of families is described.
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 42 REFERENCES
Detection of aneuploidy with digital polymerase chain reaction.
TLDR
It is shown here that digital polymerase chain reaction (dPCR) can be used for accurate measurement of trisomy 21 (Down syndrome), the most common human aneuploidy.
Noninvasive prenatal diagnosis: current practice and future perspectives
  • S. Hahn, L. Chitty
  • Medicine, Biology
    Current opinion in obstetrics & gynecology
  • 2008
TLDR
Noninvasive fetal profiling technologies could lead to the development of a new generation of highly specific tools for the detection of pregnancies at risk for preeclampsia or preterm labour.
Novel real-time quantitative PCR test for trisomy 21.
TLDR
A novel real-time PCR assay for the detection of trisomy 21 that is readily amenable to automation and high-throughput screening is described.
The biology and diagnostic applications of fetal DNA and RNA in maternal plasma.
  • R. Chiu, Y. Lo
  • Medicine
    Current topics in developmental biology
  • 2004
Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: Theoretical and empirical considerations.
TLDR
Epigenetic allelic ratio analysis of maternal plasma DNA represents a promising approach for noninvasive prenatal diagnosis of fetal chromosomal aneuploidies.
MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis.
  • C. Ding, R. Chiu, Y. Lo
  • Biology, Medicine
    Proceedings of the National Academy of Sciences of the United States of America
  • 2004
TLDR
A method based on single-allele base extension reaction and MS, which allows for the reliable detection of fetal-specific alleles, including point mutations and single-nucleotide polymorphisms, in maternal plasma, was developed and noninvasive prenatal diagnosis in a mother and father carrying identical beta-thalassemia mutations was accomplished.
Digital PCR.
  • B. Vogelstein, K. Kinzler
  • Biology
    Proceedings of the National Academy of Sciences of the United States of America
  • 1999
TLDR
An approach for transforming the exponential, analog nature of the PCR into a linear, digital signal suitable for this purpose is described and demonstrated through the detection of a mutant ras oncogene in the stool of patients with colorectal cancer.
Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of β-thalassemia
TLDR
This study describes a novel approach to non-invasive pre-natal diagnosis of β-thalassemia based on microchip analysis of fetal DNA extracted from maternal plasma using mutant enrichment amplification protocol to clamp maternal wild-type alleles.
Prenatal Diagnosis Using Fetal Cells and Cell-Free Fetal DNA in Maternal Blood: What Is Currently Feasible?
TLDR
Several research groups, including the authors', have reported on the detection of both fetal aneuploidies and single gene disorders from fetal cells in the maternal circulation through the use of a combination of these respective enrichment and analytic technologies.
Principle and applications of digital PCR
TLDR
The principles of digital PCR are reviewed and its practical applications in cancer research and in the molecular diagnosis of cancer are reviewed, providing a promising molecular diagnostic tool for cancer detection.
...
1
2
3
4
5
...