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Non-Invasive Screening Tools for Down’s Syndrome: A Review

Author(s): Kelly A. Sillence | Tracey E. Madgett | Llinos A. Roberts | Timothy G. Overton | Neil D. Avent

Journal: Diagnostics
ISSN 2075-4418

Volume: 3;
Issue: 2;
Start page: 291;
Date: 2013;
Original page

Keywords: screening | Down’s syndrome | non-invasive | biomarkers | sonographic markers | next-generation-sequencing

Down’s syndrome (DS) is the most common genetic cause of developmental delay with an incidence of 1 in 800 live births, and is the predominant reason why women choose to undergo invasive prenatal diagnosis. However, as invasive tests are associated with around a 1% risk of miscarriage new non-invasive tests have been long sought after. Recently, the most promising approach for non-invasive prenatal diagnosis (NIPD) has been provided by the introduction of next generation sequencing (NGS) technologies. The clinical application of NIPD for DS detection is not yet applicable, as large scale validation studies in low-risk pregnancies need to be completed. Currently, prenatal screening is still the first line test for the detection of fetal aneuploidy. Screening cannot diagnose DS, but developing a more advanced screening program can help to improve detection rates, and therefore reduce the number of women offered invasive tests. This article describes how the prenatal screening program has developed since the introduction of maternal age as the original “screening” test, and subsequently discusses recent advances in detecting new screening markers with reference to both proteomic and bioinformatic techniques.
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