Zusammenfassung
Die pränatale Diagnostik zum Ausschluss von fetalen Fehlbildungen und Chromosomenstörungen wird seit den 1970er-Jahren angewandt und hat heute in der Routinediagnostik bei der Schwangerenvorsorge eine fest verankerte Rolle. Die Ultraschalluntersuchung hat dabei eine zentrale Bedeutung, da die Befunde maßgeblich die Beratung und die Wahl etwaiger zusätzlicher pränataler Screeningverfahren oder diagnostischer Eingriffe bestimmen. Die genetischen Untersuchungen in der Pränataldiagnostik haben sich durch die Etablierung der nicht-invasiven Methoden zur Risikoeinschätzung für Chromosomenstörungen anhand von zellfreier DNA im mütterlichen Blut und durch die Microarray- und Paneldiagnostik an Gewebe aus Chorionzottenbiopsien und Amniozentesen enorm weiterentwickelt. Dieses Kapitel gibt einen Überblick über die Untersuchungsverfahren, die heute für die Pränataldiagnostik klinisch relevant sind.
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Manegold-Brauer, G., Lapaire, O., Hösli-Krais, I., Filges, I. (2023). Anwendung genetischer Untersuchungen in der Pränataldiagnostik. In: von Kaisenberg, C., Klaritsch, P., Hösli-Krais, I. (eds) Die Geburtshilfe. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-44369-9_7-2
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