Clinical Methods of Prenatal Genetic Diagnosis

Overview

After a brief review of the most important discoveries and new methods of prenatal genetic diagnosis the author mentions briefly also the development in the former Czechoslovak Republic and in the Czech Republic. He emphasizes the role of genetic counselling and close collaboration of genetics and the obstetrician in the diagnostic and therapeutic assistance of those suffering from inborn developmental defects and their parents and families as well as efforts to reduce the number of inborn developmental defects in the whole population. In addition to inborn developmental defects attention is paid also to some other teratogenic influences. Along with genetic discoveries a new modern branch of obstetrics developed expressed in principles of perinatology. In addition to organizational changes it contributed also by new hormonal diagnostic methods, as well as biochemical and biophysical methods. The latter made it possible eventually to obtain detailed information on the foetus and its health status, on its intrauterine growth, development and behaviour. Since the beginning of the seventies genetic and obstetric procedures of genetic prenatal diagnosis developed rapidly. In addition to the origin transabdominal amniocentesis for collection of samples amniotic fluid in the second trimesters or pregnancy there were further diagnostic and screening methods, invasive as well as non-invasive ones. Invasive procedures include coelocentesis, amniocentesis - early as well as during the second trimester - biopsy of chorionic villi (CVS), placentocentesis, and cordocentesis, bioptic methods and foetoscopy. The second group of non-invasive methods uses biochemical and ultrasonic procedures. In the conclusion the author indicates procedures in case of a positive finding of inborn developmental defects.

Key words:
prenatal diagnosis - methods of genetic counselling - collaboration of the geneticist and obstetrician - invasive and non-invasive procedures