Dugoff Lorraine, Mennuti Michael T, McDonald-McGinn Donna M
Department of OB/GYN, Divisions of Reproductive Genetics and Maternal Fetal Medicine, University of Pennsylvania, Philadelphia, PA, USA.
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.
Prenat Diagn. 2017 Jan;37(1):53-60. doi: 10.1002/pd.4864. Epub 2016 Jul 25.
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.
游离DNA检测越来越多地用于筛查孕妇的胎儿非整倍体。这项技术还可能识别微缺失综合征，包括最常见的微缺失综合征——22q11.2缺失综合征以及22q11.2重复综合征。本文旨在概述22q11.2缺失综合征，回顾针对该缺失进行游离DNA筛查的早期经验，并探讨产前检测该缺失可能带来的潜在益处。© 2016约翰·威利父子有限公司
