Compulsory genetic testing - karyotype

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 alterations does not give any symptoms apart from problems with procreation. If patients try to get pregnant and even though a year has passed there is no pregnancy, then it is necessary to exclude such a carrier, i.e. to perform a karyotype. A medical history alone is not enough, because nature sometimes works in such a way that the problem may have just started with someone in the family, someone may have been the first. Karyotype testing is the start of a genetic infertility diagnostic regimen, believes the Aleksandra Jezela-Stanek, MD, PhD, Professor IGiChP, a clinical geneticist at the InviMed Clinic in Katowice, Poland.

As our expert adds, a karyotype test is mandatory before any IVF approach.

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.

Check the list of genes tested

It is worth adding that a different number of genes is tested in women and 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.

Substantive consultation: Aleksandra Jezela-Stanek, MD, PhD, Professor IGiChP, InviMed clinic in Katowice