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medizinische genetik

, Volume 26, Issue 4, pp 382–390 | Cite as

Nichtinvasive Pränataldiagnostik

ETS und NGS-basierte Tests
Schwerpunktthema: Pränatale Diagnostik

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.

Schlüsselwörter

Ersttrimesterscreening Nackentransparenz Sonographische Untersuchung NIPT Zellfreie fetale DNA Detektionsraten Trisomie 21, 18, 13 Monosomie X 

Non-invasive prenatal diagnostics

ETS and NGS-based tests

Abstract

First trimester screening for the risk evaluation of trisomy 21, 18 and 13 has become established in Germany over the last 15 years. Optimal implementation requires the use of certain measurement criteria in ultrasound and biochemical analyses as well as the use of an evaluated risk calculation program. In Germany individual risk calculation is mostly performed using the PRC calculation program from the Fetal Medicine Foundation Germany (FMF-D). By using a new version trisomy 21, 18 and 13 detection rates could be increased while reducing false positive rates which represents significant progress compared to the maternal age indications.

By analyzing cell-free fetal DNA from maternal plasma significantly better prediction rates could be achieved in screening within the last 2 years. Approximately 99 % of trisomy 21 pregnancies can be described as a risk group with this methodology. The false positive rate is below 1 %. By using this method a paradigm shift in the prenatal diagnostics can be expected.

Keywords

First trimester screening Nuchal translucency Sonography Non-invasive prenatal testing Cell-free fetal DNA Detection rate Trisomy 21, 18, 13 Monosomy X 

Notes

Einhaltung ethischer Richtlinien

Interessenkonflikt

Potenzieller Interessenkonflikt: B. Eiben und R. Glaubitz sind Mitarbeiter der amedes Laborgruppe, die den Panoramatest in Deutschland vertreibt. K.O. Kagan gibt an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  1. 1.amedes geneticsamedes Institut Labormedizin und Klinische Genetik Rhein/RuhrEssenDeutschland
  2. 2.amedes genetics HannoverHannoverDeutschland
  3. 3.Universitätsfrauenklinik TübingenTübingenDeutschland

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