Der Gynäkologe

, Volume 46, Issue 12, pp 908–912 | Cite as

Screening und mögliche Alternativen zur Detektion von Aneuploidien

Leitthema
First Online:
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Zusammenfassung

Der Nachweis von Chromosomenfehlverteilungen, Aneuploidien, erfolgt in der Regel an der Eizelle (1./2. Polkörper) oder am Embryo (Blastomere, Trophektodermzelle der Blastozyste). Für die Diagnostik stehen verschiedene Methoden zur Verfügung; die derzeit international favorisierte ist die Biopsie von Trophektodermzellen in Verbindung mit einer Array-CGH (“comparative genomic hybridization“), wobei letztere künftig durch das NGS („next generation sequencing“) komplementiert wird. Die genannten Verfahren sind invasiv und erlauben eine weitgehend zuverlässige Aussage bezüglich des Vorliegens einer Aneuploidie. Zur Vermeidung einer invasiven Entnahme von embryonalen Zellen werden alternative Methoden diskutiert, mit denen sich Aneuploidien indirekt bzw. auf der Basis von Korrelationen anhand verschiedener Marker nachweisen lassen. Einige Verfahren sind noch im experimentellen Stadium, u. a. Genexpressionsmuster in Kumuluszellen oder die Konzentration bestimmter Metabolome im Kulturmedium. Ein weiteres neues Verfahren ist der Einsatz von Time-lapse-Imaging zur Korrelation morphokinetischer Parameter mit Aneuploidien.

Schlüsselwörter

Präimplantationsdiagnostik Genexpression Metabolom Biopsie Time-lapse imaging 

Screening and possible alternatives for the detection of aneuploidies

Abstract

Chromosomal aberrations such as aneuploidies are usually diagnosed by polar body biopsy or biopsy of the blastomeres or trophectoderm cells. However, several other methods are available for further diagnosis. Trophectoderm biopsy followed by array-CGH is the most favored diagnostic method, although next-generation sequencing is becoming a viable alternative. All these techniques are invasive but enable a proper diagnosis of aneuploidy. Alternate methods are discussed that may avoid the invasive removal of embryonic cells. The purpose of these new tools is to give a risk estimate for aneuploidy by correlation of different markers. Some of these technologies are still experimental; for example, gene expression in cumulus cells or concentration of certain metabolites in culture medium. A new method that is currently applied is time-lapse imaging, which allows one to correlate morphokinetic parameters with the aneuploidy risk.

Keywords

Preimplantation diagnosis Gene expression Metabolome Biopsy Time-lapse imaging  
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Notes

Einhaltung ethischer Richtlinien

Interessenkonflikt. BT und TS geben keinen Interessenskonflikt an. MM ist Geschäftsführer einer Beratungsfirma, welche unter anderem im Bereich Time-lapse imaging für die Firma Unisense FertiliTech beratend tätig ist. MM hat in den vergangenen 3 Jahren Honorare für Vorträge oder Seminare erhalten von: Cook, Ferring, Merck-Serono, Merck Sharp & Dohme, MTG, OvaScience, Unisense FertiliTech, Vitrolife. Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  1. 1.Abteilung für Gynäkologische Endokrinologie & FertilitätsstörungenUniversitäts-Frauenklinik HeidelbergHeidelbergDeutschland

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