2011•Genetics in MedicineOpen access

DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study

Glenn E. Palomaki, Edward M. Kloza, Geralyn M. Lambert-Messerlian, James E. Haddow, Louis M. Neveux, Mathias Ehrich, Dirk van den Boom, Allan T. Bombard, Cosmin Deciu, Wayne W. Grody, Stanley F. Nelson, Jacob A. Canick

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Key concepts: Medicine, Cell-free fetal DNA, Down syndrome, Prenatal diagnosis, False positive rate, Obstetrics, Genetic testing, Certification

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