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Updated: Feb 10, 2026

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
Published on: September 19, 2019
The benefits and limitations of cell-free DNA screening for 22q11.2 deletion syndrome
Lorraine Dugoff1, Michael T Mennuti1, Donna M McDonald-McGinn2
1Department of OB/GYN, Divisions of Reproductive Genetics and Maternal Fetal Medicine, University of Pennsylvania, Philadelphia, PA, USA.
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.
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