The goal of DNA analysis in medicine is to detect genetic changes which by molecular logic is the most accurate way to confirm the presence of genetic disease. In the article we try to highlight the complexity of the use of genetic testing, as, besides the importance of indicating the appropriate analysis, correct interpretation of any results, an understanding of the limits of testing and its specificity, there are many legal and ethical implications connected with genetic testing. It therefore follows that genetic counseling should be an integral part of the process of genetic testing.
F.01 Acquisition of new practical knowledge, information and skills
COBISS.SI-ID: 25455065The consequence of prenatal detection of fetuses with congenital anomalies is induced termination of pregnancy (TOP). The analysis of the indications for TOP and the agreements between prenatal and pathohistological findings is required to assess the quality of work and the appropriateness of diagnostic procedures. Fetal structural anomalies are frequent cause of TOP. Pathohistological examination of the fetus confirmed the prenatal diagnosis in all the cases, whereas in one fourth of the cases it provided additional information on congenital anomalies.
B.03 Paper at an international scientific conference
COBISS.SI-ID: 24988889PGD developed as an alternative to prenatal diagnostics for helping couples who are carriers of some heritable diseases which can be transmitted to their children. Amniocentesis and chorionic biopsy as reliable invasive methods of prenatal testing for specific diseases are only possible between 10th and 15th month of pregnancy. In case the diagnosis of a genetic disease is established in the embryo stage, the couple must make a decision about the early abortion, which is unacceptable for some couples.
F.01 Acquisition of new practical knowledge, information and skills
COBISS.SI-ID: 26512089Practical application of this knowledge established new diagnostic tests based on the analysis of human genetic material. However, the understanding of mechanisms of diseases in genetic disorders is still limited. As the understanding of mechanisms of diseases is important for successful treatment, most of the genetic disorders cannot be treated causally in the sense of preventing the process of the disease. Depending on the approach, prenatal genetic testing can enable the selection of healthy embryos even before impregnation or the decision of the parents for a healthy child.
F.01 Acquisition of new practical knowledge, information and skills
COBISS.SI-ID: 23394521For an efficient uptake of new genomic medicine at the population level, we started a project on the Public Health Genomics Education Network (PHGEN) with an aim to increase knowledge in all critical levels of public health care system. It is our goal to review the present state of awareness and knowledge of human genomics at all levels in the public health care and educational systems, to recognize the need for genomic knowledge as identified by health care practitioners and educators and consequently develop a national strategy in human genomics training.
F.18 Transfer of new know-how to direct users (seminars, fora, conferences)
COBISS.SI-ID: 22774489