文献_2012-DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as down syndrome.pdf

ORIGINAL RESEARCH ARTICLE ©American College of Medical Genetics and Genomics Open dnA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as down syndrome: an international collaborative study 1 2 1 Glenn E. Palomaki, PhD , Cosmin Deciu, MS , Edward M. Kloza, MS , 1 1 1 Geralyn M. Lambert-Messerlian, PhD , James E. Haddow, MD , Louis M. Neveux, BA , 3 3 2–4 Mathias Ehrich, MD , Dirk van den Boom, PhD , Allan T. Bombard MD, MBA , Wayne W. Grody, MD, PhD5–7, Stanley F. Nelson, MD5,7,8 and Jacob A. Canick, PhD1 Purpose: To determine whether maternal plasma cell–free DNA overall false-positive rates for the three aneuploidies could be as low sequencing can effectively identify trisomy 18 and 13. as 0.1% (2/1,688) at an overall detection rate of 98.9% (280/283) for common aneuploidies. An independent academic laboratory con- methods: Sixty-two pregnancies with trisomy 18 and 12 with tri- firmed performance in a su