Non-Invasive Prenatal Detection of Trisomy 13 Using a Single Nucleotide Polymorphism- and Informatics-Based Approach |
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| Authors: | Megan P. Hall Matthew Hill Bernhard Zimmermann Styrmir Sigurjonsson Margaret Westemeyer Jennifer Saucier Zachary Demko Matthew Rabinowitz |
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| Affiliation: | 1. Department of Research and Development, Natera Inc., San Carlos, California, United States of America.; 2. Department of Genetic Counseling, Natera Inc., San Carlos, California, United States of America.; Innsbruck Medical University, Austria, |
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| Abstract: | PurposeTo determine how a single nucleotide polymorphism (SNP)- and informatics-based non-invasive prenatal aneuploidy test performs in detecting trisomy 13.MethodsSeventeen 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.ResultsOf 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.ConclusionsThis informatics- and SNP-based method accurately detects trisomy 13-affected fetuses non-invasively and with high calculated accuracy. |
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