Update zu Indikationen und Möglichkeiten der invasiven fetalen Diagnostik

According to the latest statistics of the European Registration of Congenital Anomalies and Twins (EUROCAT), the risk of having a child with a congenital malformation is 2–3%. Due to better ultrasound equipment and trained examiners, fetal malformations can be detected more frequently and earlier in pregnancy and further diagnostics can also be provided through genetic testing. In recent years, prenatal genetic tests have become available more quickly and at lower costs. A genetic diagnosis can substantially influence the course of pregnancy, delivery, postnatal treatment and further family planning. Prenatal diagnostics are based increasingly more on an interplay between obstetrics and genetics and for this reason a close communication between the disciplines is extremely important. This article is intended as a guide for the counselling of pregnant women before and after the prenatal diagnostics and provides an overview of commonly used techniques in genetic analyses.