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Biomarker in der Pränataldiagnostik

Biomarkers in prenatal diagnostics

  • Leitthema
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Der Gynäkologe Aims and scope

Zusammenfassung

Der Einsatz von Biomarkern spielt in der personalisierten Medizin eine immer größere Rolle. In der Pränataldiagnostik kommen Biomarker im Screening auf Aneuploidien und − in zunehmendem Maß − auch in der Detektion der Präeklampsie zum Einsatz. Beim Screening auf Trisomien können mit einer Kombination aus mütterlichem Alter, der sonographisch bestimmten Dicke der fetalen Nackenfalte und der Bestimmung von schwangerschaftsassoziiertem Plasma-Protein A (PAPP-A) und humanem Choriongonadotropin β (β-HCG) im Serum der Mutter Detektionsraten von 90% bei Falsch-positiv-Raten von 3% erreicht werden. Insbesondere beim Screening auf Trisomie 21 wird in Zukunft durch die Möglichkeit der Bestimmung zellfreier fetaler DNA (cffDNA) im Serum der Mutter eine weitere Reduktion der Rate invasiver Eingriffe zu erwarten sein. Die Messung von löslicher „fms-like tyrosinkinase“ 1 (sFlt-1) und plazentarem Wachstumsfaktor (PlGF) kann eine frühe Präeklampsie mit einer Sensitivität von 89% und einer Spezifität von 97% diagnostizieren. Insbesondere das Auftreten präeklampsieassoziierter Komplikationen kann bei Patientinnen mit klinischem Verdacht auf die Erkrankung zuverlässig mithilfe des sFlt-1/PlGF-Quotienten vorhergesagt werden. Der optimale Zeitpunkt der Früherkennung der Präeklampsie mithilfe angiogener Faktoren, möglicherweise auch anderer Biomarker, wird noch untersucht.

Abstract

Currently, personalized medicine relies largely on biomarkers. In prenatal diagnostics a variety of biomarkers can help to improve detection of fetal aneuploidy as well as prediction of preeclampsia. While clear cut algorithms exist for aneuploidy screening, prospective validation of biomarkers in preeclampsia diagnostics is still underway. The combination of maternal age, thickness of fetal nuchal translucency measured via ultrasound as well as maternal serum levels of pregnancy-associated plasma protein A (PAPP-A) and beta human chorionic gonadotropin (beta HCG) can detect up to 90 % of trisomies with a false positive rate of 3%. Prospectively, the automated measurement of cell-free fetal DNA (cffDNA) will bring a further reduction of invasive diagnostics for trisomy 21. The measurement of soluble fms-like tyrosine kinase 1 (sFlt-1) and placental growth factor (PlGF) can detect early onset preeclampsia with a sensitivity of 89 % and a specificity of 97 %. The measurement of the sFlt-1/PlGF ratio can accurately predict the onset of preeclampsia-associated adverse outcomes. The optimal timing for early recognition of preeclampsia with the help of angiogenic factors or other biomarkers is currently under investigation.

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Interessenkonflikt

Der korrespondierende Autor weist für sich und seinen Koautor auf folgende Beziehung/en hin: Herr PD Dr. Verlohren erhielt Forschungsgelder sowie Vortragshonorare von Roche Diagnostics und Novartis sowie Vortragshonorare von ThermoFisherScientific.

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Authors and Affiliations

  1. Klinik für Geburtsmedizin, Charité Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Deutschland

    S. Verlohren & W. Henrich

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  1. S. Verlohren
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  2. W. Henrich
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Correspondence to S. Verlohren.

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Verlohren, S., Henrich, W. Biomarker in der Pränataldiagnostik. Gynäkologe 46, 397–402 (2013). https://doi.org/10.1007/s00129-012-3131-5

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  • DOI: https://doi.org/10.1007/s00129-012-3131-5

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