Empfehlungen der DEGUM, der ÖGUM, der SGUM und der FMF Deutschland zum Einsatz von Ersttrimester-Screening, früher Fehlbildungsdiagnostik, Screening an zellfreier DNA (NIPT) und diagnostischen Punktionen

Zusammenfassung

Das Ersttrimester-Screening zwischen 11 + 0 und 13 + 6 Wochen mit qualifizierter Beratung, differenzierter Organdiagnostik sowie maternalen und biochemischen Markern ist die Grundlage der Entscheidung über den Umfang weiterer Untersuchungen. Mehr als die Hälfte relevanter fetaler Fehlbildungen können frühzeitig erkannt werden. Erhöhte Nackentransparenz und/oder auffällige biochemische Parameter weisen auf genetische oder strukturelle Anomalien hin. Durch Einschluss uteriner Dopplerparameter und des PlGF können die Risiken von Präeklampsie und Wachstumsrestriktion bestimmt und mittels der Gabe von ASS der weitere Verlauf zahlreicher Schwangerschaften positiv beeinflusst werden. Schwellenwerte (Cut-offs) und die Bildung von Bereichen hoher, intermediärer oder geringer Wahrscheinlichkeiten für das Vorliegen genetischer Anomalien dienen der Erläuterung der Erkennungs- und der Falsch-positiv-Raten. In der Beratung muss das individuelle Bedürfnisprofil der Schwangeren für entsprechendes Vorgehen (keine weitere Abklärung – Screening an zellfreier DNA – diagnostische Punktion) ermittelt werden. Die Beratung beinhaltet, dass in Kollektiven jüngerer Schwangerer und altersbedingt geringer Prävalenz oder beim Screening auf seltene submikroskopische Strukturanomalien auch bei hoher Spezifität der positive prädiktive Wert des Screenings gering ist. Innerhalb der Gesamtpopulation machen Trisomien und Anomalien der Geschlechtschromosomen etwa 70 % der lichtmikroskopisch erkennbaren Anomalien aus. Nach einem positiven Screening-Befund ist eine Absicherung durch diagnostische Punktion unerlässlich. Bei Testversagen besteht eine höhere Rate pathologischer Befunde. Die Verlustraten nach diagnostischen Punktionen liegen in Expertenhand um 1 bis 2 auf 1000 über der natürlichen Verlustrate. Die Beratung sollte die Möglichkeiten der Erkennung submikroskopischer Strukturanomalien mittels vergleichender genomischer Hybridisierung (Array-CGH) beinhalten. Belastbare Daten zu Sensitivität, Falsch-positiv-Raten und positiven prädiktiven Werten beim Screening auf Mikrodeletionen und -duplikationen lassen sich aus den bislang vorliegenden Studien nicht berechnen.

Key words

cell-free dna - detailed early ultrasound - diagnostic procedures - chromosomal anomalies - first-trimester screening

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