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Erschienen in: medizinische genetik 4/2014

01.12.2014 | Schwerpunktthema: Pränatale Diagnostik

Nichtinvasive Pränataldiagnostik

ETS und NGS-basierte Tests

verfasst von: Bernd Eiben, Ralf Glaubitz, Karl Oliver Kagan

Erschienen in: medizinische genetik | Ausgabe 4/2014

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Zusammenfassung

Das Ersttrimesterscreening zur Risikobestimmung für die Trisomien 21, 18 und 13 hat sich in den letzten 15 Jahren in Deutschland etabliert. Die optimale Durchführung setzt die Einhaltung bestimmter Messkriterien beim Ultraschall und bei der biochemischen Analyse voraus sowie die Benutzung evaluierter Risikoberechnungsprogramme wie dem Berechnungsprogramm PRC der Fetal Medicine Foundation Deutschland (FMF-D). Durch die neue Version des Berechnungsprogramms PRC konnten die Trisomie-21-, -18- und -13-Detektionsraten erhöht werden bei gleichzeitiger Senkung der Falsch-positiv-Raten, was einen großen Fortschritt verglichen mit der mütterlichen Altersindikation darstellt.
Durch die Analyse der zellfreien fetalen DNA aus dem mütterlichen Plasma können seit 2 Jahren aber wesentlich bessere Screeningvorhersagen getroffen werden. Über 99 % aller Trisomie-21-Schwangerschaften können mit dieser Methodik als Risikogruppe beschrieben werden. Die Falsch-positiv-Rate liegt unter 1 %. Durch diese Methode ist ein Paradigmenwechsel in der Pränataldiagnostik zu erwarten.
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Metadaten
Titel
Nichtinvasive Pränataldiagnostik
ETS und NGS-basierte Tests
verfasst von
Bernd Eiben
Ralf Glaubitz
Karl Oliver Kagan
Publikationsdatum
01.12.2014
Verlag
Springer Berlin Heidelberg
Erschienen in
medizinische genetik / Ausgabe 4/2014
Print ISSN: 0936-5931
Elektronische ISSN: 1863-5490
DOI
https://doi.org/10.1007/s11825-014-0021-3

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