Fetale Nackentransparenz und weitere Ersttrimester Marker: Screening auf fetale Herzfehler

Zusammenfassung

Das Risiko für kardiale Fehlbildungen steigt exponentiell mit der Nackentransparenz an. Allerdings zeigt das NT Screening zur Entdeckung angeborener Herzfehler im Niedrigrisikokollektiv eine eher moderate Sensitivität. Als Einzelparameter zeigen, insbesondere bei normaler NT, auch der Ductus venosus und die Trikuspidalklappenregurgitation eher geringe Sensitivitäten. Die Kombination aus allen 3 Parametern kann ggf. die Detektionsraten verbessern. Da die Prävalenz von Herzfehlern bei Feten mit einer NT ≥95. Perzentile um das 2,5-fache ansteigt, sollten diese in der 20. SSW eine detaillierte Echokardiografie erhalten. Bei Feten mit einer NT ≥99. Perzentile und einem ca. 10-fach erhöhten Risiko für fetale Herzfehler sollte die Echokardiografie durch einen spezialisierten Untersucher bereits Ende des ersten oder im frühen zweiten Trimenon erfolgen, ebenso bei den Feten die neben einer erhöhten NT ≥95. Perzentile eine Trikuspidalklappenregurgitation oder eine erhöhte Pulsatilität im Ductus venosus aufweisen. Die frühe fetale Echokardiografie sollte in jedem Fall durch eine detaillierte Echokardiografie in der 20. SSW ergänzt werden.

Abstract

The present article summarises current knowledge on the risk of fetal cardiac malformations in fetuses with increased nuchal translucency (NT), abnormal ductus venosus blood flow pattern and tricuspid regurgitation. The risk of congenital heart disease (CHD) increases with increasing NT. However, nuchal translucency screening is only modestly efficient in the detection of congenital heart disease in low-risk pregnancies. If the nuchal translucency is normal, abnormal ductus venosus blood flow and tricuspid regurgitation show low sensitivities as single screening parameters. The combination of all 3 markers might increase the detection rates. Fetal echocardiography at 20 weeks of gestation is recommended in foetuses with an NT ≥95^th percentile, as the incidence of CHD increases 2.5-fold. When the NT measurement is ≥99^th percentile, the risk of CHD increases 10-fold. In this high-risk group and in fetuses with tricuspid regurgitation and/or an abnormal DV flow pattern along with an increased NT, first or early second trimester echocardiography performed by experts is warranted. The early examination of the fetal heart should be completed by a detailed echocardiogram at around 20 weeks of gestation.

Schlüsselwörter

Nackentransparenz - Ductus venosus - Trikuspidalklappenregurgitation - Kongenitale Herzfehler - fetale Echokardiografie

Key words

nuchal translucency - ductus venosus - tricuspid regurgitation - congentital heart disease - fetal echocardiography

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