Supplementary Materials

Supplementary Material for:

Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease

Mark D. Pertile, Meredith Halks-Miller, Nicola Flowers, Catalin Barbacioru, Sarah L. Kinnings, Darcy Vavrek, William K. Seltzer, Diana W. Bianchi*

*Corresponding author. Email: diana.bianchi{at}

Published 30 August 2017, Sci. Transl. Med. 9, eaan1240 (2017)
DOI: 10.1126/scitranslmed.aan1240

This PDF file includes:

  • Fig. S1. Examples of amniocentesis SNP CMA results associated with UPD.
  • Fig. S2. Comparison of the frequency of single RATs in current study versus CVS data from a published study.
  • Fig. S3. Examples of DNA sequence displays used in cohort 1 to visually analyze results.
  • Table S1. Summary of cytogenetic and clinical outcome data from the 60 cases of single RATs in cohort 2.
  • Table S2. Frequencies of single RATs in the published literature using cfDNA and cytogenetic analysis.
  • Table S3. Observed frequencies of single RATs in the combined current study cohorts compared with CVS data from a published study.
  • Table S4. Definition of parameters used to grade technical noise in visual review of data.
  • Reference (38)

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