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.
Methods: This article provides an overview of the subject in the light of selectively reviewed literature, guidelines, and recommendations.
Results and conclusion: Invasive prenatal diagnosis is most commonly performed to assess the embryonal/fetal chromosome set. An increasing number of monogenic diseases can be diagnosed prenatally by either genetic or biochemical testing, depending on the particular disease being sought. Polygenic and multifactorial diseases cannot be reliably diagnosed by genetic testing at present, although a number of malformations can be ascertained prenatally by ultrasonography. We discuss the applications and limitations of invasive and noninvasive techniques for prenatal diagnosis.