Noninvasive screening tools for Down syndrome: a review

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 exp...

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Main Authors: Smith M, Visootsak J
Format: Article
Language:English
Published: Dove Medical Press 2013-03-01
Series:International Journal of Women's Health
Online Access:http://www.dovepress.com/noninvasive-screening-tools-for-down-syndrome-a-review-a12377
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author Smith M
Visootsak J
author_facet Smith M
Visootsak J
author_sort Smith M
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description 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. Keywords: Down syndrome, noninvasive screening, diagnostic techniques
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spelling doaj.art-7e2494f1372048068418ff12431b16812022-12-22T02:51:15ZengDove Medical PressInternational Journal of Women's Health1179-14112013-03-012013default125131Noninvasive screening tools for Down syndrome: a reviewSmith MVisootsak JMeagan 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. Keywords: Down syndrome, noninvasive screening, diagnostic techniqueshttp://www.dovepress.com/noninvasive-screening-tools-for-down-syndrome-a-review-a12377
spellingShingle Smith M
Visootsak J
Noninvasive screening tools for Down syndrome: a review
International Journal of Women's Health
title Noninvasive screening tools for Down syndrome: a review
title_full Noninvasive screening tools for Down syndrome: a review
title_fullStr Noninvasive screening tools for Down syndrome: a review
title_full_unstemmed Noninvasive screening tools for Down syndrome: a review
title_short Noninvasive screening tools for Down syndrome: a review
title_sort noninvasive screening tools for down syndrome a review
url http://www.dovepress.com/noninvasive-screening-tools-for-down-syndrome-a-review-a12377
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