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Review

Down syndrome screening: imagining the screening test of the future

, , , , &
Pages 445-457 | Published online: 09 Jan 2014
 

Abstract

Prenatal screening for Down syndrome (DS) is performed by risk calculation based on biochemical and biometric parameters. This way, approximately 75–85% of all DS cases can be detected. A way to improve detection rates is to search for new screening markers. Since the majority of biomarkers used in current DS screening are predominantly produced by the placenta, and the presence of an extra chromosome (as in DS) complicates placental development and function, it is plausible to assume that new potential screening markers may also originate from the placenta. Any alterations in these markers can be attributed to abnormal placental development and function. This article focuses on normal early placental development and function compared with that in DS pregnancies. Using this knowledge, we reason towards candidate biomarkers that may be useful in screening for DS.

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.

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