ABSTRACT
This chapter focuses on medical issues with regard to the current use of prenatal diagnosis in developed countries. This “state of the art” overview with some future perspectives of the field also provides a medical framework to the Ethical dilemmas due to prenatal and genetic diagnostics (EDIG) project report, the emphasis of which is on ethical, psychological, and societal aspects. The aim of screening for foetal anomalies is to identify specific structural malformations. This allows the pregnant woman to receive appropriate care during pregnancy and delivery, or to be offered other reproductive choices. Birth defect syndromes number in the thousands and each condition has its own implications for prognosis, treatment, and recurrence risk. Discriminating among a number of overlapping and, often, not too well defined entities is the most challenging task for the foetal ultrasonographer. The foetal diagnostic process is best achieved within the multi-disciplinary team that includes specialists in foetal medicine, paediatrics, and clinical genetics, among others.
