multiplexed maternal plasma DNA sequencing; cell-free DNA aneuploidy screening (cfDNA)

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Indications

* may eliminate need for amniocentesis in some cases

Contraindications

Principle

Clinical significance

Notes

More general terms

More specific terms

Additional terms

References

  1. 1.0 1.1 Chiu RWK et al Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study BMJ 2011; 342:c7401 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/21224326 <Internet> http://www.bmj.com/content/342/bmj.c7401.full
  2. Chiu RWK, Cantor CR, Lo YMD. Non-invasive prenatal diagnosis by single molecule counting technologies. Trends Genet 2009;25:324-31 PMID: https://www.ncbi.nlm.nih.gov/pubmed/19540612
  3. Nicolaides KH et al First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound in Obstetrics and Gynecology. June 7, 2013 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/23744626 <Internet> http://onlinelibrary.wiley.com/doi/10.1002/uog.12511/full
    Gil MM, Quezada MS, Bregant B Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies Ultrasound in Obstetrics and Gynecology. June 7, 2013 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/23744609 <Internet> http://onlinelibrary.wiley.com/doi/10.1002/uog.12504/full
  4. 4.0 4.1 Bianchi DW et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014 Feb 27; 370:799. <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/24571752 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMoa1311037
    Greene MF and Phimister EG. Screening for trisomies in circulating DNA. N Engl J Med 2014 Feb 27; 370:874 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/24571760 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMe1401129
  5. 5.0 5.1 5.2 Norton ME et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 2015 Apr 2 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/25830321 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMoa1407349
    Snyder MW et al. Copy-number variation and false positive prenatal aneuploidy screening results. N Engl J Med 2015 Apr 2 PMID: https://www.ncbi.nlm.nih.gov/pubmed/25830323
  6. Thierry AR et al. Clinical validation of the detection of KRAS and BRAF mutations from circulating tumor DNA. Nat Med 2014 Apr; 20:430 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/24658074 <Internet> http://www.nature.com/nm/journal/v20/n4/full/nm.3511.html
  7. 7.0 7.1 Amant F et al Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing. JAMA Oncol. Published online June 05, 2015 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/26355862 <Internet> http://oncology.jamanetwork.com/article.aspx?articleid=2318964
  8. 8.0 8.1 8.2 8.3 8.4 ACOG Committee Opinion. Number 640, September 2015 Cell-free DNA Screening for Fetal Aneuploidy. http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Cell-free-DNA-Screening-for-Fetal-Aneuploidy