Pränatale Diagnostik und Therapie bei kongenitaler Zwerchfellhernie^[*]

Einleitung

Normale Entwicklung

Während der normalen Embryonalentwicklung wird das Zwerchfell als ein kuppelartiges, muskulofibröses Septum ausgebildet, welches Bauch- und Brusthöhle des Ungeborenen voneinander trennt. Hierbei entstehen ein zentral liegender, aponeurotischer (Centrum tendineum) und ein peripherer, muskulärer Anteil.

Die embryologische Entwicklung des Zwerchfells endet 8 Wochen post conceptionem mit der Fusion von 4 Anteilen:

• ventrales Septum transversum

• lateraler muskulärer Anschluss an die Thoraxwand

• dorsales Mesoderm

• pleuroperitoneale Membran

Das Zwerchfell hat 2 physiologische Durchlässe für die dorsal liegenden Gefäße und für die zentrale Speiseröhre sowie 2 physiologische Schwachstellen: die posterolateral gelegene Bochdalek- und die anterior gelegene Morgagni-Region.

Fehlbildung des Zwerchfells

Bei der kongenitalen Zwerchfellhernie (CDH) handelt es sich um eine Fehlentwicklung des Zwerchfells. Sie ist in der Literatur mit einer Inzidenz von 1 : 1800–1 : 5900 aufgeführt und gehört somit zu den häufiger vorgeburtlich zu beobachteten angeborenen Fehlbildungen [1]–[4].

Es sind verschiedene Lokalisationen der Hernien bekannt:

• linksseitig

• rechtsseitig

• beidseitig

Linksseitige CDH. Bei der Bochdalek-Hernie findet sich ein fehlender Verschluss des Zwerchfells im Bereich des Bochdalek-Dreiecks links posterolateral. Sie ist mit circa 70–75 % die häufigste Form der Zwerchfellhernien [5], [6].

Rechtsseitige CDH. Die rechtsseitige Hernie tritt mit 20 % Häufigkeit auf.

Beidseitige CDH. Die bilaterale Hernie inklusive der Zwerchfellagenesie wird mit knapp 5 % Häufigkeit deutlich seltener als ein linksseitiger Defekt beschrieben.

Konsekutive Störung der Lunge

Durch den jeweiligen Defekt des Zwerchfells ist eine Verlagerung von Bauchorganen in die Brusthöhle möglich. Dabei wird im weiteren Verlauf der Schwangerschaft die Entwicklung der Lungen gestört. Die hierdurch bedingte hohe Mortalitäts- und Morbiditätsrate bei Lebendgeborenen mit kongenitaler Zwerchfellhernie ist durch 2 hauptsächliche Ursachen charakterisiert:

• Lungenhypoplasie insbesondere der ipsilateralen Lunge (Inzidenz 1,1/1000 Lebendgeborene; Mortalität > 50 % [7], [8])

• pulmonale Hypertonie durch schwere Störungen der Lungengefäßentwicklung

So kommt es zu einer Reduktion der Anzahl präazinärer Luftwege und Gefäße. Ebenso sinken die Zahl der Alveolen und die der peripheren Arterien [9]–[11].

Auf der kontralateralen Seite kommt es zu einer konsekutiven Dilatation der Gefäße; gleichzeitig wird ein kleineres Gefäßbett sowie eine Reduktion der Gefäßzahl gefunden [11]. Ebenso verdickt die Pulmonalarterienmuskulatur, sodass die Gefäße ein starres, enges Lumen haben.

Neuere vorgeburtliche Behandlungsformen wie ein temporärer Verschluss der Luftröhre (fetoskopische endotracheale Okklusion [FETO]) und postnatale Therapiekonzepte verbessern die kindliche Prognose zwar, dennoch bleibt die Sterblichkeits- und Morbiditätsrate weiterhin hoch [12]–[15].

Fazit für die Praxis

Auch unter Ausschöpfung aller pränatalen Möglichkeiten, der Nutzung optimaler Geburtsbedingungen und mit dem besten neonatalen und chirurgischen Management sinkt die Sterblichkeit insbesondere der linksseitigen Liver-up-Hernien nicht unter 30 % [16], [17].

Assoziierte Fehlbildungen

Daneben weisen Feten mit CDH häufig auch assoziierte Fehlbildungen und Syndrome auf:

• Herzfehlbildungen (27 %)

• Urogenitalfehlbildungen (18 %)

• muskuloskelettäre Auffälligkeiten (15 %)

• ZNS-Anomalien (10 %)

• Aneuploidien [1], [4], [6], [15], [18]–[24]

Aufgrund ihrer sehr schlechten Prognose wird im Falle ihrer pränatalen Entdeckung die Schwangerschaft häufig beendet. Derart betroffene Feten kämen darüber hinaus auch nur selten für eine vorgeburtliche Therapie in Betracht, sodass hier keine ausreichend verwendbaren Erfahrungen vorliegen.

^* Mod. nach Erstpublikation Z Geburtshilfe Neonatol 2014; 218: 6–17

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