Prenatal diagnosis of the Lesch-Nyhan syndrome

Abstract

Amniocentesis provides the prenatal diagnosis of chromosomal abnormalities and many biochemical disorders. Many of the biochemical assays are not routinely performed in many institutions. Those institutions utilizing autoradiographic studies routinely can make a diagnosis of biochemical disorders satisfactorily by utilizing a combination of bank cells, amniotic fluid cells and autoradiographic techniques. An example is given of this technique used in a patient with a family history of Lesch-Nyhan syndrome.