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

Authors
  • Sillence, Kelly A1
  • Madgett, Tracey E2
  • Roberts, Llinos A3
  • Overton, Timothy G4
  • Avent, Neil D5
  • 1 School of Biomedical and Biological Sciences, Plymouth University Peninsula School of Medicine and Dentistry, Plymouth University, Plymouth, PL4 8AA, UK. [email protected]
  • 2 School of Biomedical and Biological Sciences, Plymouth University Peninsula School of Medicine and Dentistry, Plymouth University, Plymouth, PL4 8AA, UK. [email protected]
  • 3 School of Biomedical and Biological Sciences, Plymouth University Peninsula School of Medicine and Dentistry, Plymouth University, Plymouth, PL4 8AA, UK. [email protected]
  • 4 Department of Obstetrics, St Michael's Hospital, Southwell Street, Bristol, BS2 8EG, UK. [email protected]
  • 5 School of Biomedical and Biological Sciences, Plymouth University Peninsula School of Medicine and Dentistry, Plymouth University, Plymouth, PL4 8AA, UK. [email protected]
Type
Published Article
Journal
Diagnostics
Publisher
MDPI AG
Publication Date
May 31, 2013
Volume
3
Issue
2
Pages
291–314
Identifiers
DOI: 10.3390/diagnostics3020291
PMID: 26835682
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

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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