Genetic testing
Are you considering the future of your family? Want to make informed decisions about your child's health and your own? Genetic testing is becoming a key part of modern medicine, offering invaluable information that can affect your life and the lives of your loved ones. They can give you peace of mind, understand potential risks and effectively plan for the future. It is an investment in your health that allows you to detect many diseases early, personalise treatment and take preventive action.
Genetic disorders are some of the more common factors responsible for lack of pregnancy. Genetic infertility can affect both women and men. In order to increase the chance of achieving a pregnancy and having a healthy baby, it is important to have a genetic diagnosis carried out in good time. And it is a good idea to do this even before you start trying for a pregnancy.
Genetic diseases are a large group of different conditions that are associated with abnormalities within a person's genetic material. Sometimes they develop completely asymptomatically, even between generations. For this reason, experts recommend that every couple who comes to an infertility clinic should do basic genetic testing.
Carrying chromosomal abnormalities does not cause any symptoms other than problems with procreation. If patients are trying to conceive and have not become pregnant after a year, then such carrier status should be ruled out by performing a karyotype test. A medical history alone is not sufficient, because nature sometimes works in such a way that the problem may have only just begun in someone in the family, and someone may have been the first to develop it. Karyotype testing is the start of a genetic infertility diagnostic regimen, believes the Aleksandra Jezela-Stanek, MD, PhD, Professor IGiChP, a clinical geneticist from the Invimed Clinic in Katowice.
As our expert adds, a karyotype test is mandatory before any IVF approach.
When is it a good idea to do genetic testing?
Indications for genetic diagnosis of both parents and their embryos include primary amenorrhoea in women, POF (premature ovarian failure), habitual (recurrent) miscarriages and, in men, severe oligozoospermia, azoospermia or carriage of genetic diseases.
Modern genetic diagnostics makes it possible to select a test depending on what stage you are at in your efforts to have a baby:
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you are just planning to start trying, but would like to check the risk of genetic diseases in your child before doing so,
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you are at the beginning or in the process of trying, and there is a medical history of genetic diseases in your family,
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You have been trying to have a baby for some time without success,
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you are in the process of infertility treatment,
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you have medical indications to use donor ova.
Our website is dedicated to the complex topic of genetic testing, which we have divided into several key areas to make it easier for you to find the information you are interested in:
Pre-pregnancy testing
Prepare for informed parenthood by minimising the risk of transmitting genetic diseases. Cariotype, and if medically indicated, extended testing for: Rhodinia male and female panel, BRCA-1, BRCA-2.
Genetic testing in infertility
Understand the causes of pregnancy difficulties and find a way to solve the problem: Rhodinia male and female panel, BRCA-1, BRCA-2, eBIOM
Genetic testing in pregnancy
Monitor the development of the foetus and detect any abnormalities early, providing the best care.
MORE ->Genetic testing after miscarriages
They will help you understand the potential genetic causes of pregnancy loss, which may increase the chances of a successful future delivery: eBIOM, chronic inflammatory condition - endometritis (CD-138, MUM-1)
Genetic testing of embryos during IVF
They will allow the selection of embryos with the highest development potential, which will significantly increase the chances of a successful IVF procedure.
Genetic diagnosis of both partners
- Karyotype
The analysis of the couple's karyotype is a basic genetic test that should be performed by every couple trying for pregnancy. Any abnormality in the karyotype can be the cause of genetic diseases, and these can contribute to infertility or even sterility of the couple. This test also makes it possible to exclude the transmission of genetic defects to the offspring.
- The CFTR gene
Mutations in the CFTR gene contribute to the development of cystic fibrosis and some forms of infertility in men, such as obstructive azoospermia (obstruction of the sperm ducts, or bilateral absence of sperm). The CFTR gene mutation in women can cause menstrual disorders (secondary amenorrhoea), as well as the secretion of excessively thick mucus in the cervix, resulting in impaired migration of sperm during their journey to the egg.
Male genetic diagnosis
- AZF region
The presence of a microdeletion in the AZF region of the Y chromosome causes dysfunction in the proteins responsible for the normal production of male gametes and is one of the genetic factors in the development of male infertility. Genetic testing for microdeletions in the AZF region helps determine whether the cause of male infertility is related to this defect. It is recommended for men when a semen test reveals extreme oligozoospermia, cryptozoospermia or azoospermia. Further treatment of the couple's infertility will also depend on the outcome of the test.
Genetic panels – targeted testing
A karyotype test is performed to determine the number and structure of a patient's chromosomes. As Prof Jezela-Stanek explains, once this test has been performed, there may be an indication for further tests such as genetic panels. This situation is particularly common in idiopathic infertility, i.e. infertility of unknown cause. Panels are dedicated to specific symptoms, such as reduced semen parameters, which may also be the result of a genetic disorder. In this situation, for example, a test is ordered for the gene CFTR to check for the presence of a mutation within this gene. The mutation is responsible for some forms of infertility in men and contributes to the development of cystic fibrosis.
As our specialist emphasises, before patients decide to have any tests done, it is important to see a geneticist to select the right diagnosis for both partners.
There are a number of genes that are studied in women and another in men. - In women there are two XX chromosomes, if there is an error on one, the other X chromosome “compensates” for the loss: and we are healthy, we are just carriers. If we pass this error on to our sons, there is nothing to compensate. There is a whole group of diseases compressed with the X chromosome, which affect only boys, girls either do not have symptoms at all, or much less severe," explains Professor Jezela-Stanek.
Genetic testing - a chance for a healthy pregnancy
For each of the genetic tests, it is worth emphasising that abnormalities in the results do not at all mean that the couple has no chance of pregnancy and that the baby will be born ill.
I have been in the profession for a long time and such situations have only happened a few times when the karyotype result has shown that we have no chance. For the most part, an absolutely abnormal result does not rule out a healthy pregnancy, it is only associated with the risk of a problem. However, if we have this risk identified then we have the tools to do something either before the pregnancy, during the pregnancy or even after the birth to intervene as soon as possible. The most important thing is always to identify the problem, if necessary,' emphasises Aleksandra Jezela-Stanek, MD, PhD, Professor IGiChP, from the clinic of Invimed in Katowice.
We invite you to explore the information on our website to help you make informed decisions about your health and the health of your family.