Genetic testing
Genetic testing is a key part of infertility diagnosis and family planning to detect chromosomal and gene abnormalities that may affect the possibility of pregnancy. Genetic disorders are one of the common causes of fertility problems in couples. Chromosomal abnormalities are asymptomatic and are only indicated by problems with procreation. A karyotype test is obligatory before any approach to IVF. An abnormal result does not mean that there is no chance of a healthy pregnancy, but it allows early intervention and appropriate treatment. Find out detailed information about the different types of genetic testing available for couples.
Highlights
- Karyotype testing is a mandatory test before any approach to the in vitro, because carrying chromosome variations causes problems with procreation.
- Genetic disorders is one of the more frequent causes of female infertility i men, It is therefore advisable to carry out a genetic diagnosis before trying to get pregnant.
- In men mutations in the CFTR gene can cause obstructive azoospermia and, in women, menstrual disorders and the secretion of excessively thick cervical mucus.
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)
Incorrect result genetic testing does not rule out a healthy pregnancy, but only indicates the risk of a problem and allows earlier intervention. Study karyotype is a mandatory test before any approach to the in vitro, because carrying chromosome variations causes problems with procreation.
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 chromosome alterations does not give any symptoms apart from problems with procreation. If patients are trying to get pregnant and, although a year has passed, there is no pregnancy, then it is necessary to rule out such a carrier, i.e. to perform a karyotype. A medical history alone is not enough, as 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 from the Clinic Invimed in Katowice.
As our expert adds, the study karyotype is mandatory before any approach to the in vitro.
When is it a good idea to do genetic testing?
Indications for undertaking genetic diagnosis of both parents and their embryos include, in women, primary amenorrhoea, POF (premature cessation of ovarian function), habitual miscarriages (recurrent), and in men severe oligozoospermia, azoospermia, whether carriage of genetic diseases.
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.
Modern genetic diagnostics makes it possible to select a test depending on what stage you are at in your efforts to have a baby:
-
you are just planning to start trying, but would like to check the risk of genetic diseases in your child before doing so,
-
you are at the beginning or in the process of trying, and there is a medical history of genetic diseases in your family,
-
You have been trying to have a baby for some time without success,
-
you are in the process of infertility treatment,
-
you have medical indications to use donor ova.
Genetic diagnosis of both partners
- Karyotype
Analysis karyotype couples is a basic genetic test that should be performed by every couple trying for pregnancy. Any abnormalities in karyotype can be the cause of genetic diseases, and these can contribute to infertility or even couple infertility. This test also makes it possible to exclude the transmission of genetic defects to the offspring.
- The CFTR gene
Gene mutations CFTR contribute to the development of cystic fibrosis and some forms of male infertility, such as obstructive azoospermia (obstruction of the sperm exit ducts, or bilateral absence of sperm). Mutation of the gene CFTR In women, it can cause menstrual disorders (secondary amenorrhoea) and 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 microdeletions in the area AZF of the Y chromosome causes dysfunction of the proteins responsible for the normal production of male gametes and represents one of the genetic factors in the development of male infertility. Genetic study of microdeletions in the region AZF 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 result of the test.
Genetic panels – targeted testing
Study karyotype is performed to determine the number and structure of the 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.
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.
Key questions - FAQ
Some basic genetic tests, including the karyotype, are reimbursed by the National Health Service with appropriate medical indications. A referral is made by a gynaecologist or clinical geneticist.
The karyotype remains constant throughout life, but the risk of certain chromosomal abnormalities in the offspring increases with the age of the parents. In women over 35 years of age, the likelihood of chromosomal aberrations in the foetus increases significantly.
The karyotype is usually ready within 2-3 weeks, molecular testing can take from a few days to a month.
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.
Author's bibliography:
- Drewa, G., & Ferenc, T. (Eds.). (2011). Medical genetics. Handbook for students. Wrocław: Elsevier Urban & Partner. ISBN: 978-83-7609-295-9
- Dziuba, U. (2017). Genetic causes of infertility. Family Medicine, 3, 198-205. DOI: 10.25121/MR.2017.20.3.198.
- Ball, J. (2017). Medical and molecular genetics. Warsaw: Wydawnictwo Naukowe PWN. ISBN: 978-83-01-19263-1
The medical information presented should be considered as general guidelines and does not replace the individual judgement of the doctor regarding the medical management of each patient. The doctor, after a thorough examination of the patient's condition, determines the extent and frequency of diagnostic tests and/or therapeutic procedures, taking into account specific medical indications. All medical decisions are made in full consultation with the patient.
Author of the article
Invimed editorial team - we serve patients by solving their fertility problems. We use world medical knowledge, state-of-the-art technology and treatment methods. We are here to make dreams of parenthood come true. The smiles on the faces of happy parents give meaning to our work.
See all articles →