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Int J Womens Health. 2013 Mar 6;5:125-31. doi: 10.2147/IJWH.S31183. Print 2013.

Noninvasive screening tools for Down syndrome: a review.

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1
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; diagnostic techniques; noninvasive screening

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