Noninvasive screening tools for Down syndrome: a review

• Type of Material: Article
• Authors: Meagan Smith, Emory University; Jeannie Visootsak, Emory University
• Language: English
• Date: 2013-03-06
• Publisher: Dove Medical Press
• Publication Version: Final Published Version
• Copyright Statement: © 2013 Smith and Visootsak, publisher and licensee Dove Medical PressLtd.
• License: Creative Commons Attribution 3.0 Unported
• Final Published Version (URL): http://www.dovepress.com/noninvasive-screening-tools-for-down-syndrome-a-review-peer-reviewed-article-IJWH
• Title of Journal or Parent Work: International Journal of Women's Health
• Volume: 5
• Start Page: 125
• End Page: 131
• Grant/Funding Information: This work was supported by a grant from the National Institutes of Health/Eunice Kennedy Shriver National Institute of Child Health and Human Development (1K23HD058043-01A1 to JV).
• Keywords: noninvasive screening; diagnostic techniques; Down syndrome
• Research Categories: Biology, Genetics

Abstract

Down syndrome is the leading cause of prenatal chromosome abnormalities, accounting for 53% of all reported chromosome conditions. Testing strategies, guidelines, and screening options have expanded from their conception in the 1970s, and now include such options as anatomical ultrasound, maternal serum screening, and noninvasive prenatal testing. This review summarizes all currently available noninvasive diagnostic techniques for the detection of Down syndrome. By understanding fully each technology and the possible alternatives, the physician will be able to provide their patients with all the information necessary to make an informed decision regarding their medical management.