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     Since 1977, when the new Department of Medical Genetics at the University Hospital, Olomouc, was established, we have succeeded in making giant steps. Our success is related to enormous accumulation of new information in this medical field which, at present, practically overlaps all biomedical disciplines and in many cases modifies a view of individual pathological units.

 

     At present, the Medical Genetics has evidently reached the greatest significance in the area of Gynecology and Obstetrics, where it is now sharing a significant portion of the clinical work. It has always been true that the greatest happiness in a family is bringing up a healthy child. And this is exactly the goal the workers at our Institute have been concentrating their efforts on. Only a short time ago, in case of antenatal finding of a more serious type of congenital development defect or hereditary illness, we were only being able to apply methods of so called secondary prevention leading to abortion. At present, however, we are more and more often experiencing situations, where it is possible to influence the defective fetus development, or eventually, in case of genetic risk partners, help achieve a healthy product of conception.

 

     The Olomouc Center of Prenatal Diagnostics and Fetal Medicine belongs to one of the first in the Czech Republic. From the very beginning, it has had to rely on good co-operation with ambulatory gynecologists, which in just our case proved to be optimal. We have always appreciated very much this mutual co-operation. It is possible to diagnose only those pregnancy cases where the gynecologists have expressed suspicion of abnormal course and a finding. Last year, the historically lowest indicator of perinatal death rate – 5 per thousand - in the catchment area of the Olomouc Clinic of Gynecology and Obstetrics was achieved. It is necessary to attribute it to our mutual effort to take care of a genetically risky family and a pregnant woman.

 

     In our republic, one of few in Europe, we have succeeded in being able to reimburse three basic pregnancy screening programs by health insurance companies - so called double or triple pregnant woman’s blood serum test, three - stage ultrasound fetus examination and goal-directed testing of fetus karyotype in pregnant women over 35 to 37 years old. On one hand, it is the maximum benefit for the couple expecting a child, on the other hand there is a stress situation to be dealt with up to the time when the result is known. The fact that, for example, in 2002, at our workplace, 46 fetuses were prenatally confirmed as having serious health affliction, justifies this concern. Our efforts are directed in three directions: shifting the goal-directed prenatal diagnostics into the earliest stage of pregnancy possible – into the 1st trimester if possible, submitting the examination results as early as possible after invasive intervention, so, for example, after amniocentesis we would be able to supply the result within three days and finally making this diagnostics more accurate using most modern equipment and procedures which will be mentioned further on. Obviously, our work requires maintaining all principals of medical ethics, which are especially relevant in genetics. This is the reason for using our own software, which is not part of the overall computer network of the institute.

 

     Since 2003, our institute has been a teaching workplace of IPVZ, Prague. We would like to keep you up to date regarding new developments and procedures in the examination area and also offer our, today already traditional, refresher courses, which have become very popular.

 

     In conclusion, I would like to thank you again for all your co-operation and we are looking forward to its continuation in future years.

 

 Prof. Dr. Jiří Šantavý, Ph.D.