title: The benefits and limitations of cell-free DNA screening for 22q11.2 deletion syndrome.
abstract: Cell-free DNA testing is increasingly being used to screen pregnant women for fetal aneuploidy. This technology may also identify microdeletion syndromes, including 22q11.2 deletion syndrome, the most common microdeletion syndrome, and the 22q11.2 duplication syndrome. The purpose of this paper is to provide an overview of the 22q11.2 deletion syndrome, to review the early experience with cell-free DNA screening for this deletion and to consider the potential benefits that may be associated with prenatal detection of the deletion. © 2016 John Wiley & Sons, Ltd.
authors.affiliation: Department of OB/GYN, Divisions of Reproductive Genetics and Maternal Fetal Medicine, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Lorraine
authors.initials: L
authors.lastname: Dugoff
authors.affiliation: Department of OB/GYN, Divisions of Reproductive Genetics and Maternal Fetal Medicine, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Michael T
authors.initials: MT
authors.lastname: Mennuti
authors.affiliation: Division of Human Genetics, 22q and You Center and Clinical Genetics Center, The Children's Hospital of Philadelphia, and the Department of Pediatrics, The Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Donna M
authors.initials: DM
authors.lastname: McDonald-McGinn
mesh_terms: D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis