Genetic Outpatient Clinic
Medical genetics
Medical genetics deals with the most accurate diagnosis of hereditary diseases and also the prevention of their recurrence in the family. It is also possible to determine the risk of occurrence of a hereditary disease that has not yet occurred or has not yet manifested in the family.
What to expect from a clinical geneticist
During the consultation, we ask about the health problems of both partners from birth to the present. We also find out this information about siblings and their children, parents, their siblings and their children, and grandparents, or other relatives.
After the consultation, we suggest laboratory genetic tests. These include chromosome analysis (karyotype) and molecular genetic testing (DNA analysis) of selected genes that may be related to reproductive problems or serious hereditary diseases that repeatedly occur in the family.
The test can also be performed preventively. During such a test, we look for predispositions to hereditary diseases that occur more frequently in the population and that could occur in the offspring of the couple being tested.
For genetic laboratory tests, a blood sample is usually required (not fasting). Depending on the results, genetic testing of other relatives may be recommended, or specialized testing during pregnancy or after artificial insemination.
Genetic laboratory testing can only be performed with the informed consent of the patient or their legal representative based on the recommendation of a clinical geneticist.
Who visits the medical genetics clinic
Hereditary diseases have a very unpleasant characteristic, they can recur in families. It is in these families that cooperation with a geneticist can be very useful. It can reduce the risk of recurrent disease in the family. Therefore, we specifically recommend genetic testing, especially in families where there is, for example:
– already known hereditary disease
– congenital developmental defect
– congenital chromosomal aberration
– delayed mental development, behavioral disorder
– neuromuscular or neurodegenerative disease
– hereditary metabolic disorder
– reproductive disorder (partners who cannot conceive a child and are being treated for infertility or who have repeatedly had spontaneous abortions or lost their baby in the later weeks of pregnancy)
Families with hereditary diseases often visit the genetic clinic repeatedly. In some patients, we cannot detect the cause of the disease right away, but with increasing knowledge and diagnostic options, we can complete the examination over time. Perhaps it is a bit of an exaggeration to say that it is good to have your own “family geneticist”. Genetics will explain the cause of many diseases. If we know the cause of the disease, it is much easier to treat the disease effectively. That is why today’s understanding of genetics and hereditary diseases is much more complex than it was, for example, 20-30 years ago. We can now offer targeted genetic laboratory examinations in many families, or rather for many hereditary diseases, and determine the risk of recurrence of this disease in the family. Even though treatment options are constantly expanding and improving, effective drugs are not yet available for many hereditary diseases.
Why visit a genetic clinic when planning a baby
Even if there is no known risk of hereditary disease in the family, we recommend a consultation with a clinical geneticist to all partners who are planning a family. We cannot perform miracles, but with targeted testing, we can increase the chance that your children will be born healthy. A conversation with a clinical geneticist can provide you with important information for a planned pregnancy.
Recurrence of the disease in the family can be prevented
Genetics can now really help. If a hereditary disease has appeared in your family, it may not recur. We use the methods of prenatal or preimplantation genetic diagnostics. These allow us to recognize the disease during pregnancy in the fetus or in the embryo after artificial insemination.
What you can ask a geneticist
A hereditary disease in the family can raise many questions. What our patients are often interested in:
– Is the disease in our family hereditary?
– What is the risk that our child will be affected by the same disease as his sibling or parent?
– Is it possible to reduce the risk of a hereditary disease in our offspring?
– Is it possible to identify a hereditary disease in the fetus during pregnancy?
– Can artificial insemination help us?
– Who in our family can the disease recur?
– When should we come for a genetic consultation?
– Can my disease be treated – cured?
A clinical geneticist can try to find the right answers to these questions with you.
Why talk about illness in the family
The information of a doctor-geneticist differs from other medical information in that it does not concern only the patient himself, but also entire families or generations, and also in that it can predict the future risk of disease in people who are still healthy or not yet born.
After genetic testing, the doctor-geneticist will identify relatives with an increased risk of the disease and suggest preventive testing for them. The family must pass on information about possible preventive genetic testing to their relatives themselves. This way, health complications of your loved ones can be prevented.
A clinical geneticist can try to find the right answers to these questions with you.
Why talk about illness in the family
One of the causes of fertility disorders can be genetic diseases.
Couples with reproductive disorders should undergo genetic testing before an assisted reproduction cycle, after two spontaneous abortions or one loss in the higher weeks of pregnancy.
– The cause of reproductive problems can be:
– Congenital chromosomal aberration in a parent
– Monogenic hereditary disease in the family
– Congenital developmental defect in a parent
– Disease with complex inheritance in a parent
– Increased tendency to spontaneous abortions, e.g. within hereditary thrombophilias in the partner
– Spermatogenesis disorders based on gene changes in the partner
If we find out the genetic cause of reproductive problems, we can sometimes suggest a specialized procedure for a planned pregnancy. Even if the cause of the fertility disorder cannot be found, the exclusion of the most common known causes is very important information for the examined couple and for the treating physicians, specialists in reproductive medicine.
Genetic testing should always precede assisted reproduction procedures.
A clinical geneticist can try to find the right answers to these questions with you.