Genetische Untersuchungen in der Pränataldiagnostik – Welche Diagnostik für welche Fehlbildung?

Modern prenatal diagnostics offers the possibility of obtaining a rapid molecular diagnosis of genetic etiology when fetal structural abnormalities are detected by prenatal ultrasound. This information can improve prenatal and neonatal counselling, decision-making, and treatment, and expand the diagnostic options for subsequent pregnancies. The introduction of prenatal exome analyses has improved the detection rate of genetic causes of prenatal abnormalities by more than 20%. An important task now and in the future is to implement new technologies into the existing diagnostic algorithms in a meaningful way.