Pränataldiagnostik: Erweiterung durch genetische Erkenntnisse

Prenatal diagnosis as a link between obstetrics/gynecology and human genetics is based on targeted sonographic diagnosis during the first and second trimester (including customized risk assessment) by using modern ultrasound equipment (color Doppler, volume rendering via 3D/4D technology) and antenatal genetic testing and counseling pertaining to distinct problems of either the fetus or concerned couples. Undoubtedly, conventional cytogenetics remains the first-line diagnostic tool for chromosomal analyses. Recent advances, such as molecular genetics for the targeted diagnosis of metabolic disorders (e.g., cystic fibrosis), the presence of marker chromosomes, array-based CGH to identify chromosomal imbalances in cases of unknown fetal abnormalities, or methylation disorders (imprinting syndromes), are gaining more and more importance for optimized individual counseling of the patient with regard to the prognosis following an abnormal prenatal diagnosis.