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Pränatale Detektion fetaler chromosomaler Aberrationen im 1. und 2. Trimenon

Prenatal detection of fetal chromosomal abnormalities in the 1st and 2nd trimester

Zusammenfassung

Die modernen nichtinvasiven Verfahren der pränatalen Medizin, vertreten vor allem durch das Ersttrimesterscreening, ermöglichen eine frühe Risikoeinschätzung bzgl. der häufigsten Aneuploidien. Durch die flächendeckende Anwendung dieser Methode mit derzeit weit über 4000 zertifizierten Gynäkologen bundesweit stellt dies heute einen weit verbreiteten Standard dar. Die klassische „genetische“ Sonographie, d. h. die Detektierung von Softmarkern als Hinweiszeichen für eine Aneuploidie im 2. Trimenon, hat an Bedeutung verloren. Allerdings ist der Fehlbildungsultraschall im 2. Trimenon nach wie vor von sehr großer Bedeutung und stellt den „Goldstandard“ für die Entdeckung angeborener Fehlbildungen dar. Der Pränatalmediziner muss in der Lage sein, während dieser Untersuchung Softmarker zu erkennen, um ggf. eine Reevalution des mütterlichen Risikos bzgl. Aneuploidien vorzunehmen.

Abstract

Modern noninvasive methods of prenatal medicine, in particular first-trimester-screening, enable early risk evaluation of the most common forms of aneuploidy. With over 4000 certified gynecologists in Germany, this method nowadays represents the standard in prenatal risk evaluation. The importance of classic genetic sonography during the second trimester by detection of soft markers for aneuploidy has declined. However, detailed sonography during the second trimester remains the gold standard for the detection of congenital anomalies. Therefore, the specialist in prenatal medicine must be able to recognize soft markers during this examination in order to re-evaluate the maternal risk for aneuploidy.

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Correspondence to M. Krapp DEGUM III.

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Krapp, M., Ludwig, A. Pränatale Detektion fetaler chromosomaler Aberrationen im 1. und 2. Trimenon. medgen 23, 444–452 (2011). https://doi.org/10.1007/s11825-011-0305-9

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Schlüsselwörter

  • Chromosomenaberration
  • Aneuploidie
  • Pränataler Ultraschall
  • 2. Schwangerschaftsdrittel
  • 1. Schwangerschaftsdrittel

Keywords

  • Chromosome aberrations
  • Aneuploidy
  • Prenatal ultrasonography
  • Second trimester
  • First trimester