Sollen die Indikationen für nichtinvasive Pränataltests erweitert werden?

Should the indications for non-invasive prenatal tests be extended?

Zusammenfassung

Die Einführung der nichtinvasiven Pränataltests (NIPTs) im August 2012 in Deutschland hat in den letzten 5 Jahren das pränatale Screening nach fetalen Aneuploidien entscheidend verändert. Die häufigen Trisomien 13, 18 und 21 können durch NIPTs mit einer hohen Sensitivität und Spezifität detektiert werden. Momentan wird von den Anbietern versucht, die Indikationen für NIPTs auf immer mehr genetische Erkrankungen auszuweiten. Die aktuelle Situation und mögliche zukünftige Entwicklungen sollten jedoch vor der Markteinführung von neuen Testsystemen kritisch hinterfragt werden.

Abstract

The introduction of non-invasive prenatal tests (NIPTs) in Germany in August 2012 has dramatically changed the prenatal screening for fetal aneuploidy over the 5 last years. The relatively frequent trisomies 13, 18 and 21 can be detected by NIPTs with high sensitivity and specificity. Currently, the NIPT suppliers are trying to expand the indications for NIPTs to additional genetic diseases. Nevertheless, the current situation and possible future developments should be critically reflected before new test systems are launched onto the market.

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Danksagung

M. Stumm bedankt sich bei seinen Kollegen vom Kudamm-199 für die gute und kollegiale Zusammenarbeit in den letzten 15 Jahren.

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Correspondence to PD Dr. rer. nat. M. Stumm.

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Interessenkonflikt

M. Stumm war und A. Schröer ist Miteigentümer des Zentrums für Pränataldiagnostik und Humangenetik Kurfürstendamm 199. M. Stumm ist darüber hinaus Mitgesellschafter der BG Berlin-Genetics GmbH, die den Praenatest der Firma Lifecodexx AG vertreibt.

Dieser Beitrag beinhaltet keine von den Autoren durchgeführten Studien an Menschen oder Tieren.

Additional information

„Screening“ bedeutet im vorliegenden Text, dass es sich um individuelle Untersuchungen im Hinblick auf definierte Besonderheiten des Fetus handelt, die nach Aufklärung und fachgebundener genetischer Beratung entsprechend dem GenDG (Gendiagnostikgesetz) angeboten und durchgeführt werden. Es handelt sich nicht um populationsbezogene Tests.

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R. Zimmermann, Zürich

K. Vetter, Berlin

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Stumm, M., Schröer, A. Sollen die Indikationen für nichtinvasive Pränataltests erweitert werden?. Gynäkologe 51, 24–31 (2018). https://doi.org/10.1007/s00129-017-4178-0

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Schlüsselwörter

  • Aneuploidie
  • Mikrodeletion
  • Monogene Erkrankung
  • Pränatale Diagnostik
  • Zellfreie fetale DNA

Keywords

  • Aneuploidy
  • Microdeletion
  • Monogenic disorder
  • Prenatal Diagnostic
  • Cell free fetal DNA