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