Primary Prevention of Genetic Disorders and Place of Preimplantation Diagnosis

Abstract

Gene therapy is still not a realistic option for genetic disorders, so prevention remains the main approach. Preventive measures may be applied at the community level by avoiding new mutations, protection from all possible environmental hazards, predictive testing for genetic and complex disorders, and prospective screening for common genetic disorders specific for each ethnic group. The optimal time for offering these preventive measures is the preconception or preimplantation stage (Fig. 1.1), as any detection afterward will involve the decision either to keep the pregnancy with the long-term social, familial, and financial consequences of a seriously affected child, or to terminate the planned and wanted pregnancy.