ABSTRACT
The possibility of diagnosing serious genetic disorders prenatally by amniocentesis coincided closely with the legalisation of termination of pregnancy in Britain and other countries during the 1960s and 1970s. Initially applied to Down syndrome and other chromosome disorders, then to neural tube defects, prenatal diagnosis gave parents the option of avoiding genetic risk and achieving a healthy family, but at psychological cost. Ethical issues were increased as more general prenatal screening was introduced, often without adequate information for the women involved or full consideration of their wishes. Medical geneticists have taken a cautious and at times critical approach to these developments but have been closely involved with studies of safety, early approaches such as chorion villus sampling, and noninvasive prenatal testing by analysis of fetal DNA in maternal blood. They have also worked for the provision of molecular prenatal diagnosis of disorders, such as the thalassaemias, in specific ethnic groups. New developments, such as preimplantation genetic diagnosis and gene editing technology, continue to give both ethical and practical challenges in reproductive genetics.
