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Non-Invasive Prenatal Detection of Trisomy 13 Using a Single Nucleotide Polymorphism- and Informatics-Based Approach

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  • Megan P Hall
  • Matthew Hill
  • Bernhard Zimmermann
  • Styrmir Sigurjonsson
  • Margaret Westemeyer
  • Jennifer Saucier
  • Zachary Demko
  • Matthew Rabinowitz

Abstract

Purpose: To determine how a single nucleotide polymorphism (SNP)- and informatics-based non-invasive prenatal aneuploidy test performs in detecting trisomy 13. Methods: Seventeen trisomy 13 and 51 age-matched euploid samples, randomly selected from a larger cohort, were analyzed. Cell-free DNA was isolated from maternal plasma, amplified in a single multiplex polymerase chain reaction assay that interrogated 19,488 SNPs covering chromosomes 13, 18, 21, X, and Y, and sequenced. Analysis and copy number identification involved a Bayesian-based maximum likelihood statistical method that generated chromosome- and sample-specific calculated accuracies. Results: Of the samples that passed a stringent DNA quality threshold (94.1%), the algorithm correctly identified 15/15 trisomy 13 and 49/49 euploid samples, for 320/320 correct copy number calls. Conclusions: This informatics- and SNP-based method accurately detects trisomy 13-affected fetuses non-invasively and with high calculated accuracy.

Suggested Citation

  • Megan P Hall & Matthew Hill & Bernhard Zimmermann & Styrmir Sigurjonsson & Margaret Westemeyer & Jennifer Saucier & Zachary Demko & Matthew Rabinowitz, 2014. "Non-Invasive Prenatal Detection of Trisomy 13 Using a Single Nucleotide Polymorphism- and Informatics-Based Approach," PLOS ONE, Public Library of Science, vol. 9(5), pages 1-9, May.
    • Handle: RePEc:plo:pone00:0096677
    DOI: 10.1371/journal.pone.0096677
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