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2016 | OriginalPaper | Buchkapitel

7. Pränatale Diagnostik: Molekularbiologische Methoden

verfasst von : Gwendolin Manegold-Brauer, Olav Lapaire, Irene Hösli, Sinuhe Hahn

Erschienen in: Die Geburtshilfe

Verlag: Springer Berlin Heidelberg

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Zusammenfassung

Neben der klassischen Chromosomenuntersuchung im Karyogramm – auch heute noch Goldstandard in der invasiven Pränataldiagnostik – gibt es neuere molekularbiologische Methoden wie z. B. die Polymerasekettenreaktion (PCR) und die Fluoreszenz-in-situ-Hybridisierung (FISH), die die pränatalen diagnostischen Optionen wesentlich erweitert haben und auch in der Präimplantations- und Polkörperchendiagnostik eingesetzt werden, da damit auch monogene Erkrankungen in einzelnen Zellen diagnostiziert werden können.

Durch die Fortschritte bei der Analyse von zellfreier DNA im mütterlichen Blut hat die nichtinvasive pränatale Diagnostik Einzug in den klinischen Alltag gefunden. Mit der massiven parallelen Sequenzierung wird zellfreie DNA von Mutter und Fetus im mütterlichen Blut ohne Risiko für die bestehende Schwangerschaft analysiert. Es ist damit zu rechnen, dass in naher Zukunft neben Chromosomenaberrationen noch viele weitere Erkrankungen mit nichtinvasiven Techniken detektiert werden können.

Vorheriges Kapitel Embryologie und Teratologie

Nächstes Kapitel Fehlbildungsdiagnostik und Ultraschalluntersuchung im 1. Trimenon

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Titel: Pränatale Diagnostik: Molekularbiologische Methoden
verfasst von: Gwendolin Manegold-Brauer
Olav Lapaire
Irene Hösli
Sinuhe Hahn
Verlag: Springer Berlin Heidelberg
Buch: Die Geburtshilfe
Print ISBN: 978-3-662-45063-5

Electronic ISBN: 978-3-662-45064-2

Copyright-Jahr: 2016
DOI: https://doi.org/10.1007/978-3-662-45064-2_7

Springerpflege

Zusammenfassung

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