Sonografische Diagnostik fetaler Spaltbildungen von Lippe, Kiefer und Gaumen

Zusammenfassung

Spaltbildungen von Lippen, Kiefer und Gaumen gehören zu den häufigsten kongenitalen Anomalien. Da diese Fehlbildungen häufig kombiniert mit anderen strukturellen Anomalien, Chromosomenstörungen oder syndromalen Erkrankungen vorkommen, ist deren pränatale Diagnose von großer Bedeutung. Darüber hinaus ist die vorgeburtliche Erkennung der Spaltbildungen sowohl zur Vorbereitung der Eltern auf die postnatale Situation sowie zur Planung des nachgeburtlichen Vorgehens ausgesprochen hilfreich. Dieser Artikel gibt gleichermaßen eine Übersicht über das Auftreten, die Erscheinungsformen und die Pathogenese der verschiedenen Spaltbildungen, wie auch über die unterschiedlichen sonografischen Techniken, die deren exakte Diagnose und eine korrekte Aussage über ihre Ausdehnung ermöglichen. Dabei werden sowohl bekannte 2D- und 3D-Techniken, als auch neuere eigene Ansätze, insbesondere im Hinblick auf die Diagnostik isolierter Gaumenspalten, behandelt.

Abstract

Clefts of the lip, alveolus and palate are among the most common congenital malformations. Due to their frequent combination with other structural anomalies, chromosomal defects and genetic syndromes, the prenatal diagnosis of clefts plays an important role. Furthermore, the prenatal detection of clefts enhances the parents’ psychological preparation and enables the planning of postnatal management. This article reviews the occurrence, appearance and pathophysiology of these malformations as well as the different sonographic techniques used to diagnose clefts and their extent. Previously reported 2D- and 3D-techniques as well as our own recent diagnostic approach focussing on the diagnosis of isolated cleft palate are described.

Schlüsselwörter

Lippen-Kiefer-Gaumen-Spalte - isolierte Gaumenspalte - pränatale Diagnostik

Key words

facial clefts - cleft lip and palate - cleft palate - prenatal diagnosis

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