Introduction
!In the last few years, first trimester screening (FTS) in 11+ to 13+ weeks of gestation (12th to 14th weeks of gestation) has become one of the most important ultrasound examinations in pregnancy, as it allows physicians to predict several pregnancy complications [1]. While, initially, the main focus was to determine the personal risk for trisomies 21, 18 and 13, today around half of all severe foetal defects can be recognised at the time of FTS. In addition, the risks for pre-eclampsia, growth retardation and pre-term birth can be determined. Various interventions and therapies are now available to treat many of these problems in patients considered at particular risk [2,38]. The use of foetal DNA obtained from maternal blood and massively parallel sequencing has made it possible to detect foetal trisomy 21 with a high degree of probability already in the first trimester of pregnancy [3]. At a casual glance it would appear that use of foetal DNA to assess the risk for trisomy 21 now competes with FTS. But on more careful examination of these tests it becomes clear that assessment of foetal DNA has the potential to become an important tool for prenatal medicine specialists in future. This review offers an assessment of foetal DNA analysis in the context of current prenatal medical questions and demonstrates the practical uses of this approach.
Assessment of Free Foetal DNA from Maternal Blood
!The detection of foetal DNA in maternal blood or, to be more precise, in cell-free maternal plasma goes back to a study by Lo et al. published in 1997 [4]. Pregnancy-specific cell-free DNA in maternal blood or plasma constitutes around 10 % of all cell-free DNA, is largely fragmented and is not 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 Prädik-tion zahlreicher Probleme in der Schwangerschaft, wie Präeklampsie oder Frühgeburtlichkeit, erlaubt. Die eigentliche Risikoberechnung für Trisomie 21/18 und 13, basierend auf dem mütter-lichen Altersrisiko, der fetalen Nackentransparenz und der maternalen Serumbiochemie, stellt dabei nur einen der Schwerpunkte dar,...