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2018 | OriginalPaper | Buchkapitel

25. Chromosomale und nicht chromosomale Syndrome

verfasst von : Prof. Dr. med. S. Tercanli, Prof. Dr. med. P. Miny, Prof. Dr. med. U. Gembruch, PD Dr. med. H. M. Reutter

Erschienen in: Ultraschalldiagnostik in Geburtshilfe und Gynäkologie

Verlag: Springer Berlin Heidelberg

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Zusammenfassung

Infolge kontinuierlicher Fortschritte bei der Visualisierung der fetalen Anatomie durch Ultraschall sowie der Verfügbarkeit neuer hochauflösender genomischer Untersuchungsmethoden wie Mikroarrays und Hochdurchsatzsequenzierung haben sich die Rahmenbedingungen der Schwangerschaftsvorsorge in den letzten Jahren grundlegend verändert. Durch einen kombinierten Einsatz von bildgebenden und genetischen Screeninguntersuchungen ergänzt durch eine gezielte invasive Diagnostik in Hochrisikosituationen kann das Risiko für Chromosomenanomalien heute in jeder Schwangerschaft massiv gesenkt werden. Demgegenüber ist der Einsatz von Hochdurchsatzsequenzierungen in der Differenzialdiagnostik nicht chromosomaler Syndrome aus zeitlichen und methodischen Gründen heute vielfach noch limitiert, insbesondere wenn auffällige Ultraschallbefunde erst später in der Schwangerschaft erhoben werden können. Dieses Kapitel behandelt die für eine sonografische Diagnostik relevanten Befunde für eine exemplarische Auswahl chromosomaler und nicht chromosomaler Syndrome.

Vorheriges Kapitel Hydrops fetalis, Anämie und Thrombozytopenie

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Titel: Chromosomale und nicht chromosomale Syndrome
verfasst von: Prof. Dr. med. S. Tercanli
Prof. Dr. med. P. Miny
Prof. Dr. med. U. Gembruch
PD Dr. med. H. M. Reutter
Verlag: Springer Berlin Heidelberg
Buch: Ultraschalldiagnostik in Geburtshilfe und Gynäkologie
Print ISBN: 978-3-662-53661-2

Electronic ISBN: 978-3-662-53662-9

Copyright-Jahr: 2018
DOI: https://doi.org/10.1007/978-3-662-53662-9_25

Springerpflege

Zusammenfassung

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