Empfehlungen der DEGUM zu diagnostischen Punktionen in der Pränatalmedizin

Zusammenfassung

Diagnostische Punktionen (Amniozentese, Chorionzottenbiopsie und Fetalblutentnahme) sind ein wesentlicher Bestandteil der Pränataldiagnostik und die einzige etablierte und wissenschaftlich ausreichend evaluierte Möglichkeit der Diagnostik genetischer Erkrankungen aus schwangerschaftsspezifischen Zellen. Die Anzahl diagnostischer Punktionen in Deutschland ist, wie in anderen Ländern, deutlich gesunken. Dies ist maßgeblich auf die Einführung des Ersttrimester-Screenings mit weiterführender detaillierter Ultraschalluntersuchung des Fetus und die Analyse von cf-DNA (cell-free DNA) aus maternalem Blut (sogenannter „Nicht Invasiver Pränataler Test“ – NIPT) zurückzuführen. Andererseits sind die Erkenntnisse über die Inzidenz und das Erscheinungsbild genetischer Erkrankungen gestiegen. Die Entwicklung moderner molekulargenetischer Techniken (Mikroarray- und Exom-Analyse) macht eine differenzierte Untersuchung dieser Erkrankungen mehr und mehr möglich. Die Anforderungen an Aufklärung und Beratung über diese komplexen Zusammenhänge sind dadurch wesentlich höher geworden. Die Studien der letzten Jahre machen deutlich, dass diagnostische Punktionen, die in Expertenzentren durchgeführt werden, mit einem niedrigen Risiko für Komplikationen assoziiert sind. Insbesondere der eingriffsbedingte Abort unterscheidet sich kaum vom Hintergrundrisiko für einen Spontanabort. Die Sektion Gynäkologie und Geburtshilfe der Deutschen Gesellschaft für Ultraschall in der Medizin (DEGUM) hat im Jahr 2013 Empfehlungen zu diagnostischen Punktionen in der Pränatalmedizin publiziert [1]. Die oben geschilderten Entwicklungen und neuen Erkenntnisse der letzten Jahre machen eine Revision und Neuformulierung dieser Empfehlungen nötig. Ziel dieser Übersicht ist eine Zusammenstellung wichtiger und aktueller Fakten zu pränatalmedizinischen Punktionen (u.a. Technik, Komplikationen, genetische Untersuchungen). Sie soll der grundlegenden umfassenden und aktuellen Information über diagnostische Punktionen in der Pränatalmedizin dienen. Sie ersetzt die Publikation von 2013 [1].

Publikationsverlauf

Eingereicht: 30. November 2022

Angenommen nach Revision: 20. Dezember 2022

Artikel online veröffentlicht:
07. März 2023

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