This presentation describes and demonstrates the indications for and the importance of prenatal detection of genetic disorders. This objective is achieved with aid of photographs of clinical subjects, gross specimens, karyotypes, charts, graphs, histological slides and scintiscans. The importance of performing the analysis in laboratories with equipment and experience is stressed. In this presentation the results obtained from the screening of 1663 pregnancies by means of amniocentesis are presented. The single most important factor in fetal abnormalities is considered to be maternal age. The second group identified for amniocentesis is those mothers who have previously had a child with Down's syndrome. The technique of amniocentesis is described and the potential risks and the legal aspects are discussed. Clinical examples are presented to illustrate abnormalities which can be detected by means of amniocentesis. These examples include Hurler's syndrome, Down's syndrome, Pompe's disease, Tay-Sach's disease, galactosemia, phenylketonuria, and sex-linked disorders. Disorders which have been detected using uncultured and cultivated amniotic fluid cells and the parameter studied are discussed. The value of cell-free amniotic fluid is also discussed. Research in the development of an amnioscope is described and the importance of genetics in clinical medicine is noted.
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