title: Noninvasive screening tools for Down syndrome: a review.
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.
authors.affiliation: Emory University, Department of Human Genetics, Atlanta, GA, USA.
authors.forename: Meagan
authors.initials: M
authors.lastname: Smith
authors.forename: Jeannie
authors.initials: J
authors.lastname: Visootsak
keywords: Down syndrome; diagnostic techniques; noninvasive screening