Antenatal diagnosis, counselling, and intervention

Abstract All pregnant women should be offered antenatal screening for fetal anomalies. Non-invasive techniques include maternal blood sampling for genetic screening (e.g. part of screening routinely offered for Down syndrome), as well as diagnostic imaging, which routinely involves ultrasound scanning, again important in the antenatal diagnosis of Down syndrome. In certain conditions, more detailed structural information may be sought using magnetic resonance imaging following concerns raised during ultrasound scanning, or specific parental genetic testing. Recognition of a high-risk status may prompt more invasive diagnostic procedures, including chorionic villus sampling and amniocentesis. Antenatal counselling allows discussion of antenatal findings with the parents, preparing them for potential postnatal outcomes. Such discussions are essential to allow any prospective antenatal intervention, and planning of time, place, and mode of delivery.