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Pränataldiagnostik

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  • Pränataldiagnostik

AMNIOCENTESE

Fruchtwasseruntersuchung ab der 15. Schwangerschaftswoche


Bei der Amniocentese erfolgt ab der 15. Schwangerschaftswoche die Entnahme von Fruchtwasser aus der kindlichen Fruchthöhle. Darin befindliche kindliche Zellen werden isoliert und in Zellkulturen angezüchtet. Nach 8-14 Tagen ist dann die Aufarbeitung der Zellkultur und Darstellung der kindlichen Chromosome möglich. Ebenso kann aus dem Fruchtwasser ein Eiweißkörper, das Alphafetoprotein, bestimmt werden und Hinweise auf Neuralrohrschlußdefekte des Kindes (offener Rücken, Fehlbildungen des Gehirns) geben.

In besonderen Fällen kann auch eine frühere Entnahme des Fruchtwassers erfolgen. Das eingriffsbedingte Fehlgeburtsrisiko der Amniocentese beträgt ca. um 0,3%, in Abhängigkeit von der Erfahrung des Untersuchers. Im Gegensatz zur Chorionzottenbiopsie (ca. 11. Schwangerschaftswoche) ist die Fruchtwasserentnahme im allgemeinen erst später in der Schwangerschaft möglich. Dadurch, dass bis zur 13. Schwangerschaftswoche die meisten spontanen Fehlgeburten bereits erfolgt sind, ist die Fehlgeburtsrate im Wesentlichen nach Eingriff (nicht wegen des Eingriffs!) jedoch niedriger. Darüber hinaus erlaubt sie im Gegensatz zur Chorionzottenbiopsie die Diagnose kindlicher Neuralrohrdefekte.

Auch hier erlaubt ein Schnelltest die Diagnose zahlenmässiger Chromosomenstörungen bereits einen Tag nach der Fruchtwasserpunktion.

Indikationen zur Fruchtwasseruntersuchung / Chorionzottenbiopsie

•   Ausschluß einer kindlichen Chromosomenstörung bei auffälligem intrauterinen Ultraschallbefund
•   erhöhtes mütterliches Alter (= 35 Jahre bei der Geburt des Kindes)
•   nach der Geburt eines Kindes mit Chromosomenstörungen
•   bei Vorliegen bestimmter Chromosomenauffälligkeiten der Eltern
•   zum Ausschluß eines Neuralrohrschlußdefektes ("offener Rücken")
•   bei gesichertem Überträgerstatus der Eltern für eine monogene genetische Erkrankung mit hohem Wiederholungsrisiko

 


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ERSTTRIMESTERSCREENING

ERSTTRIMESTERSCREENING

Ultraschall-Untersuchung im 1. Schwangerschaftsdrittel

FETALE ECHOKARDIOGRAPHIE

FETALE ECHOKARDIOGRAPHIE

Das Herz ist der Schlüssel zum Feten

FETOMATERNALE DOPPLERSONOGRAPHIE

FETOMATERNALE DOPPLERSONOGRAPHIE

Sonographische Blutflussmessung

NICHT INVASIVE PRÄNATALE DIAGNOSTIK

NICHT INVASIVE PRÄNATALE DIAGNOSTIK

Risikofreie kindliche NIPT-Untersuchung (non-invasive prenatal testing) anhand mütterlichen Blutes

CHORIONZOTTENBIOPSIE

CHORIONZOTTENBIOPSIE

Chormosomale Untersuchung ab der 11. Schwangerschaftswoche

AMNIOCENTESE

AMNIOCENTESE

Fruchtwasseruntersuchung ab der 15. Schwangerschaftswoche

ULTRASCHALL FEINDIAGNOSTIK

ULTRASCHALL FEINDIAGNOSTIK

Im 2. Schwangerschaftsdrittel

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