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

作者：Hall Megan P; Hill Matthew; Zimmermann Bernhard; Sigurjonsson Styrmir; Westemeyer Margaret; Saucier Jennifer; Demko Zachary; Rabinowitz Matthew^*

来源：PLos One, 2014, 9(5): e96677.

DOI：10.1371/journal.pone.0096677

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 samplespecific 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.

• 出版日期2014-5-7