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Neonatologie

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Pädiatrie

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Zusammenfassung

Unbalancierte Chromosomenaberrationen werden bei ungefähr 4 von 1.000 Neugeborenen gefunden. In der Schwangerschaft ist die Häufigkeit in Abhängigkeit vom Gestationsalter wesentlich höher, da die meisten Chromosomenstörungen zum Spontanabort führen. Die autosomalen Trisomien 21,18 und 13 und die Monosomie X sind die klinisch bedeutsamsten Chromosomenstörungen in der Schwangerschaft. Das Trisomierisiko steigt mit dem mütterlichen Alter, dennoch werden ca. 70–80% der Trisomie-21-Kinder von Müttern unter 35 Jahren geboren, da diese 92–94% der Schwangeren repräsentieren. Die sog. Altersindikation ist der häufigste Grund für eine pränatale Karyotypisierung, die durch Amniozentese, Chorionzottenbiopsie oder Nabelschnurblutanalyse erfolgen kann (Abb. 45.1, 45.2). Sonographische Auffälligkeiten wie embryonales dorsonuchales Ödem, Plexuszysten (Abb. 45.3), Wachstumsretardierung, abnorme Fruchtwassermenge oder der Nachweis von Fehlbildungen sowiebiochemische Untersuchungen im mütterlichen Blut können ebenfalls einen Hinweis auf Chromosomenaberrationen geben.

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Authors
  1. G. Mielke
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  2. R. Roos
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  3. C. P. Speer
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  4. F. J. Schulte
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Editor information

Editors and Affiliations

  1. Universitäts-Kinderklinik, Adenauerallee 119, 53113, Bonn, Deutschland

    Michael J. Lentze

  2. Universitäts-Kinderklinik, Schwanenweg 20, 24105, Kiel, Deutschland

    Jürgen Schaub

  3. Universitäts-Kinderklinik, Martinistr. 52, 20246, Hamburg, Deutschland

    Franz J. Schulte

  4. Universitäts-Kinderklinik, Langenbeckstr. 1, 55101, Mainz, Deutschland

    Jürgen Spranger

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© 2001 Springer-Verlag Berlin Heidelberg

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Mielke, G., Roos, R., Speer, C.P., Schulte, F.J. (2001). Neonatologie. In: Lentze, M.J., Schaub, J., Schulte, F.J., Spranger, J. (eds) Pädiatrie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-12660-8_7

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  • DOI: https://doi.org/10.1007/978-3-662-12660-8_7

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-12661-5

  • Online ISBN: 978-3-662-12660-8

  • eBook Packages: Springer Book Archive

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