ArticleDNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
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Disclosure: Palomaki and Canick (Co-Principal Investigators) were members of the Sequenom Clinical Advisory Board for 6 months and resigned when the study was funded. Van den Boom, Ehrich, Bombard, and Deciu are employees and shareholders of Sequenom, Inc.
Role of the Sponsor: Sequenom Center for Molecular Medicine (SCMM) was responsible for developing an internally validated laboratory developed test (LDT) for detecting Down syndrome in maternal plasma using MPSS and for providing clinical interpretation of the test results. SCMM also identified, equipped, and trained an independent laboratory to test a subset of samples through a separate contract with UCLA. The sponsor did not control study design, identify, or communicate with Enrollment Sites, thaw or test samples prior to the formal testing period, have access to patient information prior to all testing being completed, analyze study results, prepare drafts of the manuscript, or have final decisions on manuscript content.
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