文献_2012-DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations.pdf

DOI: 10.1002/pd.3892 ORIGINAL ARTICLE DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations† 1* 1 1 1 2 2 Jacob A. Canick , Edward M. Kloza , Geralyn M. Lambert-Messerlian , James E. Haddow , Mathias Ehrich , Dirk van den Boom , Allan T. Bombard2,3,4, Cosmin Deciu3 and Glenn E. Palomaki 1 1Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, RI, USA 2Sequenom, Inc., San Diego, CA, USA 3Sequenom Center for Molecular Medicine, San Diego, CA, USA 4 Department of Reproductive Medicine, University of California San Diego, San Diego, CA, USA *Correspondence to: Jacob A. Canick. E-mail: jcanick@ † This article was published online on May 14, 2012. Errors were subsequently identified in the Abstract. This notice is included in the online and print versions to indicate that both have been corrected [June 6, 2012]. ABSTRACT Objective Studies on prenatal testing for Down syndrome (trisomy 21), trisomy 18, and trisomy 13 by massively parallel shotgun sequencing (MPSS) of circulating cell free DNA have been, for the most part, limited to singleton pregnancies. If MPSS testing is offered clinically, it is important to know if these trisomies will also be identified in multiple pregnancies. Method Among a cohort of 4664 high-risk pregnancies, maternal plasma samples were tested from 25 twin pregnancies (17 euploid, five discordant and two concordant for Down syndrome; one discordant for trisomy 13) and two euploid triplet pregnancies [Correction made here after initial online publication.]. Results were corrected for GC content bias. For each target chromosome (21, 18, and 13), z-scores of 3 or higher were considered consistent