To determine whether maternal plasma cell–free DNA sequencing can effectively identify trisomy 18 and 13, an interantional group of scientists collaborated and found that among high-risk pregnancies, sequencing circulating cell–free DNA detects nearly all cases of Down syndrome, trisomy 18, and trisomy 13, at a low false-positive rate. This can potentially reduce invasive diagnostic procedures and related fetal losses by 95%.

Participating Scientists:

Glenn E. Palomaki PhD, Cosmin Deciu MS, Edward M. Kloza MS, Geralyn M. Lambert Messerlian PhD, James E. Haddow MD, Louis M. Neveux BA, Mathias Ehrich MD, Dirk van den Boom PhD, Allan T. Bombard MD, MBA, Wayne W. Grody MD, PhD, Stanley F. NelsonMD & Jacob A. Canick PhD