Recent

% | $
Quotes you view appear here for quick access.

Sequenom Inc. Message Board

viorel263 1 post  |  Last Activity: 17 hours ago Member since: Aug 12, 2009
SortNewest  |  Oldest  |  Highest Rated Expand all messages
  • ""These samples were measured using multiple technologies including matrix-assisted laser desorption/ionization–timeof- flight mass spectrometry and massively parallel sequencing. Using these methods, 28 of the 30 aneuploid samples were detected with a specificity ranging from 0.95 to 0.99, depending on the chromosome.""

    Selective Enrichment of Genomic Loci for the
    Noninvasive Detection of Fetal Aneuploidies [285]
    Taylor J. Jensen, PhD
    Sequenom, San Diego, CA
    Cosmin Deciu, MS, Mathias Ehrich, MD, Jennifer Geis, PhD,
    Sung K. Kim, PhD, and Helen Tao, MS
    INTRODUCTION: Current commercial offerings for noninvasive
    prenatal testing differ in the breadth of their coverage (whole genome
    or reduced content). Although whole genome methods provide an
    unbiased view of the entire genome and thus the potential detection of
    a broad array of genomic aberrations, reduced content methods
    provide efficiency for detecting a limited set of copy number
    variations. The objective of this study was to develop and evaluate
    a noninvasive prenatal testing assay focused on the selective enrichment
    and analysis of a subset of the genome.
    METHODS: Regions for evaluation were selected using a combination
    of bioinformatic and experimental methods. Circulating cell-free
    DNA was extracted from the plasma of pregnant donors and amplified
    using multiplexed amplification in a single well targeting more than 50
    genomic loci. Amplified products were then evaluated using multiple
    methods including matrix-assisted laser desorption/ionization–time-offlight
    mass spectrometry and massively parallel sequencing.
    RESULTS: We evaluated the performance of the developed assay in
    an unblinded set of 288 circulating cell-free DNA samples from pregnant
    donors with known fetal karyotypes including 258 euploid and 30
    aneuploid samples. These samples were measured using multiple
    technologies including matrix-assisted laser desorption/ionization–timeof-
    flight mass spectrometry and massively parallel sequencing. Using
    these methods, 28 of the 30 aneuploid samples were detected with a specificity
    ranging from 0.95 to 0.99, depending on the chromosome.
    CONCLUSION AND IMPLICATION: Taken together, these
    proof-of-concept data demonstrate the feasibility of leveraging selected
    genomic loci for a low-cost, platform-flexible method for the noninvasive
    detection of fetal autosomal aneuploidies.
    Financial Disclosure: Drs. Jensen, Ehrich, Geis, Kim, Tao, and den Boom
    are employees of Sequenom Laboratories and shareholders of Sequenom, Inc. Dr.
    Deciu is a shareholder of Sequenom, Inc.

SQNM
4.53-0.120(-2.58%)May 5 4:00 PMEDT