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01.06.2016 | Trisomien | Leitthema

Nichtinvasive pränatale Tests

Überblick über die Grundlagen und den Einsatz der Methoden

verfasst von: Prof. Dr. med. P. Kozlowski

Erschienen in: Die Gynäkologie | Ausgabe 6/2016

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Zusammenfassung

Nichtinvasive pränatale Tests an zellfreier plazentarer DNA (NIPT) sind in kurzer Zeit zu einer wichtigen Ergänzung des Ersttrimesterscreenings in Bezug auf Aneuploidien geworden. Die Anzahl diagnostischer Punktionen bei unauffälligen Feten hat durch NIPT deutlich abgenommen. Die Sensitivität und Spezifität im Screening auf Trisomie 21 sind höher als die des kombinierten Screenings mittels Nackentransparenz und biochemischer Parameter. Der positive prädiktive Wert des NIPT der Trisomien 21, 18 und 13 hat eine deutliche Abhängigkeit von der altersabhängigen Prävalenz.

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Titel: Nichtinvasive pränatale Tests
Überblick über die Grundlagen und den Einsatz der Methoden
verfasst von: Prof. Dr. med. P. Kozlowski
Publikationsdatum: 01.06.2016
Verlag: Springer Berlin Heidelberg
Schlagwörter: Trisomien
Chromosomenanomalie
Trisomie 21
Erschienen in: Die Gynäkologie / Ausgabe 6/2016
Print ISSN: 2731-7102
Elektronische ISSN: 2731-7110
DOI: https://doi.org/10.1007/s00129-016-3889-y

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Nichtinvasive pränatale Tests

Überblick über die Grundlagen und den Einsatz der Methoden

Zusammenfassung

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