medizinische genetik

, Volume 23, Issue 4, pp 485–490 | Cite as

Nichtinvasive molekulargenetische Methoden in der pränatalen Diagnostik

  • J.B. Geigl
  • M.R. Speicher
Schwerpunkt
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Zusammenfassung

Seit vielen Jahren wird an der Entwicklung nichtinvasiver pränataler Untersuchungen gearbeitet, um die Risiken für den Fetus bei der traditionellen Amniozentese oder Choriozottenbiopsie zu umgehen. Bis vor Kurzem waren die meisten Ansätze extrem aufwendig und nur auf ausgewählte Fragestellungen limitiert, sodass sie nicht über einen „Proof-of-principle-Status“ hinauskamen. Dies hat sich durch Einführung neuer Sequenzierverfahren grundlegend geändert, weil erste Studien belegten, dass fetale Aneuploidien aus mütterlicher Plasma-DNA korrekt identifiziert werden können. Darüber hinaus erlauben diese Techniken auch den Mutationsstatus des Fetus zu erheben, sodass sich einerseits in der pränatalen Diagnostik ganz neue Möglichkeiten ergeben, die andererseits aber auch mit erheblichen ethischen Herausforderungen verbunden sind. In dieser Übersicht wird die Entwicklung zu diesen neuen Verfahren dargestellt.

Schlüsselwörter

Pränatale Diagnostik Aneuploidie Monogene Erkrankungen Überträgerstatustest „Next-generation sequencing“ 

Noninvasive molecular genetic methods in prenatal diagnosis

Abstract

Work on the development of noninvasive prenatal tests to avoid risk to the fetus in traditional amniocentesis or chorion villus biopsy has been ongoing for many years. Until recently, most approaches were extremely expensive and limited only to selected applications, thus they failed to develop beyond a “proof-of-principle” status. This has changed radically as a result of the introduction of new sequencing methods, since initial studies have shown that fetal aneuploidies from maternal plasma DNA can be identified correctly. In addition, these techniques make it possible to establish even the mutation status of the fetus. While on the one hand this offers completely new options in prenatal diagnosis, progress of this kind is associated with significant ethical challenges on the other. This overview article presents the development of these new methods.

Keywords

Prenatal diagnosis Aneuploidy Monogenic diseases Carrier testing Next-generation sequencing 

Notes

Interessenkonflikt

Der korrespondierende Autor gibt an, dass kein Interessenkonflikt besteht.

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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • J.B. Geigl
    • 1
  • M.R. Speicher
    • 1
  1. 1.Institut für HumangenetikMedizinische Universität GrazGrazÖsterreich

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