Zusammenfassung
Unter Polkörperdiagnostik (PKD) versteht man die Untersuchung der im Zuge der meiotischen Reifeteilung entstandenen Polkörper der Eizelle auf genetische Dispositionen oder auf numerische bzw. strukturelle Veränderungen der Chromosomen. Die Ergebnisse der PKD erlauben einen Rückschluss auf die genetische/chromosomale Situation der Eizelle. Das Haupteinsatzgebiet der PKD ist das Aneuploidiescreening zum Nachweis von numerischen Chromosomenfehlverteilungen in Eizellen bei fortgeschrittenem mütterlichem Alter oder bei wiederholtem Implantationsversagen. Daten zum Aneuploidiescreening aus kontrollierten randomisierten Studien liegen derzeit nur in Verbindung mit der Embryobiopsie vor. Die zum Teil kontroversen Ergebnisse werden vor dem Hintergrund gesehen, dass Embryonen Mosaike aufweisen können und daher für diesbezügliche Untersuchungen ungeeignet sind. Inzwischen wird die PKD auch international als der möglicherweise aussichtsreichere Weg zur Diagnostik von chromosomalen Fehlverteilungen eingeschätzt. Die Strategie ist hierbei die Biopsie des ersten und zweiten Polkörpers mit nachfolgender Untersuchung aller Chromosomen mittels der Array-CGH. Diese Technik wird im Rahmen einer Pilotstudie derzeit auch in Deutschland eingesetzt.
Abstract
Polar body diagnosis is the investigation of the by-products of the meiotic cell cycle, the first and second polar bodies, regarding genetic dispositions or structural and/or numerical chromosomal disorders. The results of polar body diagnosis allow conclusions to be drawn on the genetic/chromosomal constitution of the oocyte. The major application of polar body diagnosis is pre-implantation genetic screening (PGS) to detect numerical chromosomal disorders in oocytes from women with advanced maternal age or in cases with repeated implantation failure. To date all published randomized controlled trials on PGS were done by embryo biopsy. The controversial results of these studies need to be seen in view of mosaicism which is frequent in early embryos. Consequently one may conclude that the early cleavage stage embryo is not a suitable target for those kinds of investigations. Meanwhile, polar body diagnosis is considered to be the better option for the diagnosis of numerical chromosomal disorders. The strategy is to biopsy the first and second polar bodies followed by investigation of all chromosomes using array CGH. This technique is already being used in Germany in the context of a pilot study.
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Montag, M., Köster, M., van der Ven, K. et al. Polkörperdiagnostik. Gynäkologische Endokrinologie 8, 135–140 (2010). https://doi.org/10.1007/s10304-009-0344-3
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DOI: https://doi.org/10.1007/s10304-009-0344-3