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01-02-2016

Prenatale diagnostiek anno 2015

Auteurs: Prof. dr. Bettina Blaumeiser, Prof. dr. Yves Jacquemyn

Gepubliceerd in: Bijblijven | Uitgave 1/2016

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Extract

Het bepalen van een volledig foetaal genoom door middel van een eenvoudige bloedafname bij de zwangere vrouw is sinds lange tijd de heilige graal in de prenatale geneeskunde. Oorspronkelijk werd getracht intacte foetale cellen aan de hand van oppervlaktemerkers te isoleren uit het maternale bloed en hierop genetische technieken toe te passen. Behalve technische hindernissen bleken de foetale of trofoblastcellen die aanwezig zijn in het maternele bloed ons op een dwaalspoor te kunnen brengen. Deze cellen verdwijnen niet onmiddellijk na een zwangerschap, maar kunnen jarenlang aanwezig blijven, zodat in een volgende zwangerschap cellen van een vorige zwangerschap het onderzoek verstoren. Deze aanpak werd dan ook verlaten. In het maternale bloed circuleert ook vrij foetaal DNA, uit beschadigde cellen. Al het vrije DNA in de circulatie van de moeder is ofwel afkomstig van de placenta ofwel van de moeder zelf. Ongeveer 3 tot 13 % van het celvrije DNA in de maternale circulatie is van placentaire oorsprong. Dit materiaal heeft als belangrijk voordeel dat het enkele uren na de geboorte volledig verdwijnt. Recent werden technieken ontwikkeld (zoals massive parallel genomic sequencing and chromosome selective sequencing en andere) die het mogelijk maken grote delen van dit celvrije DNA af te lezen (fig. 1).
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Metagegevens
Titel
Prenatale diagnostiek anno 2015
Auteurs
Prof. dr. Bettina Blaumeiser
Prof. dr. Yves Jacquemyn
Publicatiedatum
01-02-2016
Uitgeverij
Bohn Stafleu van Loghum
Gepubliceerd in
Bijblijven / Uitgave 1/2016
Print ISSN: 0168-9428
Elektronisch ISSN: 1876-4916
DOI
https://doi.org/10.1007/s12414-016-0114-9

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