Assessment of Foetal DNA in Maternal Blood – A Useful Tool in the Hands of Prenatal Specialists

Abstract

Over the last few years, first trimester screening between 11+ and 13+ weeks of gestation has become one of the most important ultrasound examinations in pregnancy, as it allows physicians to predict several pregnancy complications including pre-eclampsia or pre-term birth. Screening for trisomies 21/18 and 13 using maternal and gestational age, foetal nuchal translucency, and maternal serum biochemistry was formerly the main reason for first trimester screening. However, today this is only one part of the overall examination. In the near future, the analysis of foetal DNA obtained from maternal blood will be used to supplement first trimester screening for aneuploidy or even replace current screening methods. In this review we show how prenatal medicine specialists can use foetal DNA analysis.

Zusammenfassung

Das Ersttrimesterscreening in der 11 + bis 13 + SSW hat sich in den vergangenen Jahren zu einer der zentralen Ultraschalluntersuchungen in der Schwangerschaft entwickelt, welche die Prädiktion zahlreicher Probleme in der Schwangerschaft, wie Präeklampsie oder Frühgeburtlichkeit, erlaubt. Die eigentliche Risikoberechnung für Trisomie 21/18 und 13, basierend auf dem mütterlichen Altersrisiko, der fetalen Nackentransparenz und der maternalen Serumbiochemie, stellt dabei nur einen der Schwerpunkte dar, der zukünftig durch die fetale DNA-Analyse aus mütterlichem Blut ergänzt bzw. abgelöst wird. In dieser Übersichtsarbeit wird der Einsatz der fetalen DNA-Analyse in der Hand des Pränatalmediziners beleuchtet.

Key words

foetal DNA - ultrasound - first trimester screening - trisomy

Schlüsselwörter

fetale DNA - Ultraschall - Ersttrimesterscreening - Trisomie

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