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Determination of fetal chromosome aberrations from fetal DNA in maternal blood : has the challenge finally been met?

Hahn, Sinuhe and Lapaire, Olav and Tercanli, Sevgi and Kolla, Varaprasad and Hösli, Irene. (2011) Determination of fetal chromosome aberrations from fetal DNA in maternal blood : has the challenge finally been met? Expert reviews in molecular medicine, Vol. 13 , e16.

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Official URL: http://edoc.unibas.ch/dok/A6007496

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Abstract

The analysis of cell-free fetal nucleic acids in maternal blood for prenatal diagnosis has been transformed by several recent profound technology developments. The most noteworthy of these are ‘digital PCR’ and ‘next-generation sequencing’ (NGS), which might finally deliver the long-sought goal of noninvasive detection of fetal aneuploidy. Recent data, however, indicate that NGS might even be able to offer a much more detailed appraisal of the fetal genome, including paternal and maternal inheritance of point mutations for mendelian disorders such as β-thalassaemia. Although these developments are very exciting, in their current form they are still too complex and costly, and will need to be simplified considerably for their optimal translation to the clinic. In this regard, targeted NGS does appear to be a step in the right direction, although this should be seen in the context of ongoing progress with the isolation of fetal cells and with proteomic screening markers.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Prenatal Medicine (Hahn)
03 Faculty of Medicine > Bereich Spezialfächer (Klinik) > Gynäkologie und Geburtshilfe > Gynäkologie (Heinzelmann)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Spezialfächer (Klinik) > Gynäkologie und Geburtshilfe > Gynäkologie (Heinzelmann)
03 Faculty of Medicine > Bereich Spezialfächer (Klinik) > Gynäkologie und Geburtshilfe > Geburtshilfe (Hösli-Krais)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Spezialfächer (Klinik) > Gynäkologie und Geburtshilfe > Geburtshilfe (Hösli-Krais)
UniBasel Contributors:Hahn, Sinuhe and Hösli-Krais, Irene M. and Tercanli, Sevgi
Item Type:Article, refereed
Article Subtype:Further Journal Contribution
Bibsysno:Link to catalogue
Publisher:Cambridge Univ. Press
ISSN:1462-3994
Note:Publication type according to Uni Basel Research Database: Journal item
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Last Modified:08 May 2015 08:45
Deposited On:26 Apr 2013 06:56

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