Antenatal diagnosis of genetic disease

Abstract

During the past decade, a vast methodology has been developed for the study and antenatal diagnosis of genetic disorders. The cytogenetic antenatal diagnosis of chromosome abnormalities is possible through the application of new methods for chromosome visualization in cultured amniotic fluid cells. A variety of inborn errors of metabolism may be diagnosed prenatally by the study of amniotic fluid, amniotic fluid cells and cultivated fibroblasts from this biologic fluid. Additionally, morphologic malformations such as neural tube defects and fetal catastrophies may be diagnosed during gestation by the study of alpha fetoprotein and beta trace protein levels. In the past few years, the application of methods for the visualization of the intrauterine fetus has been made possible by the use of techniques such as sonography, contrast radiography and fetoscopy.