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Article

Non-invasive prenatal detection of trisomy 13 using a single nucleotide polymorphism- and informatics-based approach.

PloS one - 1 Jan 2014

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

Abstract excerpt

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...

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Identifiers

PMID: 24805989
DOI: 10.1371/journal.pone.0096677
PMCID: PMC4013011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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