The Diagnostics of Fetal Heart Defects in the First and Early Second Trimester – Early Fetal Echocardiography

Abstract

Examinations of the fetal heart are increasingly being conducted as part of first-trimester screening, either as a sole visualisation of the four-chamber view or a visualisation of the four-chamber view and both ventricular outflow tracts or as a segmental approach as part of complete fetal echocardiography. Alongside anamnestic risks, markers for heart defects that become apparent during a first-trimester screening, such as thickened nuchal translucency, an abnormal blood flow velocity profile in the ductus venosus and the presence of tricuspid valve regurgitation, are indications for an early echocardiogram in this high-risk group. However, heart defects most often occur in fetuses in a low-risk group who display none of the markers mentioned. An increasing number of examiners are therefore also conducting a fetal echocardiogram as part of the detailed first-trimester screening of fetal organs. Up to 80 % of severe heart defects can be diagnosed as early as the 12th and 13th weeks of gestation. Apart from the examinerʼs experience and the best possible equipment, prerequisites are a consistent visualisation of all cross-sections and connections following a strict protocol, including transvaginal approach in some cases, and, in very rare cases, during a repeat examination a few days later. Nevertheless, primarily due to the intrauterine development of some heart defects, a further echocardiographic examination should always be carried out in the second trimester, when the detection rate is up to 10 % higher.

Zusammenfassung

Im Rahmen der Ersttrimesteruntersuchung erfolgt zunehmend auch die Untersuchung des fetalen Herzens entweder als alleinige Darstellung des Vierkammerblicks oder des Vierkammerblicks und der beiden ventrikulären Ausflusstrakte oder als segmentales Vorgehen im Sinne einer kompletten fetalen Echokardiografie. Neben einem anamnestischen Risiko sind Hinweiszeichen für Herzfehler, die während der Ersttrimesteruntersuchung auffallen, wie eine verdickte Nackentransparenz, ein abnormales Blutflussgeschwindigkeitsprofil im Ductus venosus und das Vorliegen einer Trikuspidalklappenregurgitation, Indikationen zu einer frühen Echokardiografie in diesem Hochrisikokollektiv. Andererseits treten die meisten Herzfehler bei Feten auf, die einem Niedrigrisikokollektiv angehören und keine der genannten Hinweiszeichen bieten. Daher gehen immer mehr Untersucher dazu über, im Rahmen der detaillierten Ersttrimesteruntersuchung der fetalen Organe auch eine fetale Echokardiografie durchzuführen. Bis zu 80 % der als schwer einzustufenden Herzfehler können so bereits mit 12 und 13 SSW diagnostiziert werden. Voraussetzung sind aber neben der Erfahrung des Untersuchers und einer optimalen Geräteausstattung die konsequente, einem festen Protokoll folgende Einstellung aller Schnittebenen bzw. Konnektionen, auch unter Einsatz der transvaginalen Echokardiografie und in sehr seltenen Fällen auch durch eine erneute Untersuchung wenige Tage später. Trotzdem – dies ist hauptsächlich der intrauterinen Entwicklung einiger Herzfehler geschuldet – sollte immer eine weitere echokardiografische Untersuchung im 2. Trimenon erfolgen, deren Entdeckungsrate bis zu 10 % höher ist.

Key words

ultrasound - congenital heart defects - fetal echocardiography - first trimester - prenatal diagnosis - fetus

Schlüsselwörter

Ultraschall - angeborene Herzfehler - fetale Echokardiografie - erstes Trimester - pränatale Diagnostik - Fet

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