文献_2011-DNA sequencing of maternal plasma to detect Down syndrome An international clinical validation study.pdf

ARTICLE DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study Glenn E. Palomaki, PhD1 1 1 , Edward M. Kloza, MS , Geralyn M. Lambert-Messerlian, PhD , James E. Haddow, MD1 1 2 2 , Louis M. Neveux, BA , Mathias Ehrich, MD , Dirk van den Boom, PhD , Allan T. Bombard, MD, MBA2,3,4 3 5 , Cosmin Deciu, MSc , Wayne W. Grody, MD, PhD , Stanley F. Nelson, MD6, and Jacob A. Canick, PhD1 losses. Although implementation issues need to be addressed, the evi- Purpose: Prenatal screening for Down syndrome has improved, but the dence supports introducing this testing on a clinical basis. Genet Med number of resulting invasive diagnostic procedures remains problem- 2011:13(11):913–920. atic. Measurement of circulating cell-free DNA in maternal plasma might offer improvement. Methods: A blinded, nested case-control Key Words: Down syndrome, prenatal screening, massively parallel study was designed within a cohort of 4664 pregnancies at high risk for shotgun sequencing, fetal DNA, clinical validation, detection rate, Down syndrome. Fetal karyotyping was compa