Aktuelle Trends der invasiven und nichtinvasiven Pränataldiagnostik

Abstract

Screening in the first trimester, consisting of qualified counseling and differentiated ultrasound diagnostics, is nowadays the basis for deciding on the scope of possible further examinations during pregnancy. Approximately half of the relevant fetal malformations can already be diagnosed at this time. Extended nuchal translucency (NT) indicates not only an increased risk of aneuploidy, but also of other rarer genetic diseases or structural malformations. The spectrum of prenatal diagnostics in the first trimester is supplemented by one essential point by the early estimation of the individual risk of pre-eclampsia (PE). Thus, counseling of pregnant women is becoming increasingly more complex and must take into account the current possibilities of screening, up to diagnostic clarification with the possibility of further genetic analyses, but above all the individual wishes and concerns of the pregnant women.