Publication

DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations

Jacob A. Canick, Edward M. Kloza, Geralyn M. Lambert-Messerlian, James E. Haddow, Mathias Ehrich, Dirk van den Boom, Allan T. Bombard, Cosmin Deciu and Glenn E. Palomaki
Validation study of MaterniT21 in twins, triplets; To determine whether MaterniT21 can reliably identify the core trisomies (T21, T18, T13) in twin and higher order multiple pregnancies • International collaboration of 27 prenatal diagnostic centers • 25 twin pregnancies, 2 triplet pregnancies • 7 twin pregnancies with Trisomy 21, 1 with Trisomy 13, and all 17 twin and 2 triplet euploid pregnancies were correctly classified  • In this present study, MPSS testing correctly identified all 7 twin pregnancies with Trisomy 21 and 1 twin pregnancy with Trisomy 13, indicating that this screen can be clinically useful in testing twin pregnancies.