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Noninvasive screening tools for Down syndrome: a review


Keywords: Down syndrome, noninvasive screening, diagnostic techniques

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ninvasive screening tools for Down syndrome: a review Review (548) Total Article Views Authors: Smith M, Visootsak J Published Date March 2013 Volume 2013:5 Pages 125 - 131 DOI: Received: 24 December 2012 Accepted: 30 January 2013 Published: 06 March 2013 Meagan Smith, Jeannie Visootsak Emory University, Department of Human Genetics, Atlanta, GA, USA 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.


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