Pränatale genetische Diagnostik bei ZNS-Fehlbildungen

Einleitung

Fehlbildungen des zentralen Nervensystems (ZNS) stellen eine klinisch und genetisch heterogene Gruppe von Störungen der frühen Gehirnentwicklung dar. Diese können isoliert auftreten oder auch in Kombination mit weiteren Fehlbildungen und Entwicklungsdefekten, d. h. „syndromal“. Ebenso wie die pränatale sonografische Diagnostik kann auch die pränatale Magnetresonanzuntersuchung (MRT) eine Eingruppierung der fetalen neurologischen Strukturauffälligkeiten des Gehirns bei Feten ermöglichen. Diese bildgebenden Verfahren stellen somit eine Grundlage für eine gezielte Abklärung der zugrunde liegenden genetischen Ursachen dar. Die Fortschritte in der genetischen Aufklärung dieser Krankheitsbilder führen dann nicht nur zu einem besseren Verständnis der Ursachen, sondern auch zu einer deutlichen Verbesserung der prognostischen Einschätzung für das betroffene Kind.

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