Copy-Number Variation and False Positive Prenatal Aneuploidy Screening Results

Details

• Alternative Title:
  N Engl J Med
• Personal Author:
  Snyder, Matthew W. ; Simmons, LaVone E. ; Kitzman, Jacob O. ; Coe, Bradley P. ; Henson, Jessica M. ; Daza, Riza M. ; Eichler, Evan E. ; Shendure, Jay ; Gammill, Hilary S.
• Description:
  Investigations of noninvasive prenatal screening for aneuploidy by analysis of circulating cell-free DNA (cfDNA) have shown high sensitivity and specificity in both high-risk and low-risk cohorts. However, the overall low incidence of aneuploidy limits the positive predictive value of these tests. Currently, the causes of false positive results are poorly understood. We investigated four pregnancies with discordant prenatal test results and found in two cases that maternal duplications on chromosome 18 were the likely cause of the discordant results. Modeling based on population-level copy-number variation supports the possibility that some false positive results of noninvasive prenatal screening may be attributable to large maternal copy-number variants. (Funded by the National Institutes of Health and others.).
• Subjects:
  Adult Aneuploidy Article Chromosome Disorders Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 21 DNA DNA Copy Number Variations False Positive Reactions Female Humans Models, Statistical Pregnancy Prenatal Diagnosis

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• Source:
  N Engl J Med. 2015; 372(17):1639-1645.
• Pubmed ID:
  25830323
• Pubmed Central ID:
  PMC4411081
• Document Type:
  Journal Article
• Funding:
  1R01MH101221/MH/NIMH NIH HHS/United States ; DP1 HG007811/HG/NHGRI NIH HHS/United States ; DP1HG007811/DP/NCCDPHP CDC HHS/United States ; K08 HD067221/HD/NICHD NIH HHS/United States ; K08HD067221/HD/NICHD NIH HHS/United States ; R01 MH101221/MH/NIMH NIH HHS/United States ; Howard Hughes Medical Institute/United States
• Volume:
  372
• Issue:
  17
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:9b64721ddcbf564f8d00537ab1e435a1d7b4798c9d8d5d969f70980ecb8f728d
• Download URL:
  https://stacks.cdc.gov/view/cdc/30659/cdc_30659_DS1.pdf
• File Type:
  [PDF - 676.37 KB ]