Pränatalmedizin. Nicht invasive pränatale Tests – Wo stehen wir und was wird noch kommen?

Nicht invasive pränatale Tests (NIPT) basieren auf der Untersuchung der im mütterlichen Blutplasma zirkulierenden zellfreien plazentaren DNA. Seit der Markteinführung der ersten Tests 2010 in den USA sowie 2012 im deutschsprachigen Raum haben die Tests eine rasche Verbreitung erfahren. Das Konzept des Ersttrimester-Screenings (ETS) steht vor einer großen Herausforderung: Die Ermittlung des Risikos für fetale Trisomien und andere Aneuploidien wird in Zukunft effizienter durch nicht invasive pränatale Tests durchzuführen sein, die fetale Sonoanatomie sowie die Risiken für verschiedene Schwangerschaftskomplikationen hingegen werden mit den Werkzeugen des Ersttrimester-Screenings beurteilt werden.

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