The Prenatal Diagnosis of Genetic Diseases

Background Prenatal diagnosis is a subfield of clinical genetics and gynecology that exemplifies the effective integration of theoretical and clinical medicine. Milestones in its history include the development of cytogenetic, molecular genetic, and molecular cytogenetic methods as well as advances in ultrasonography. The latter technique not only improves the safety of invasive procedures, but also enables earlier and more reliable diagnosis of congenital malformations.