Genetics

Family planning and fertility disorders

Genetics

Pre-conception genetic testing is performed either to assess the risk of transmitting a genetic disease to offspring or to determine the cause of infertility. The first step is a consultation with our specialists, so do not hesitate to book an appointment.

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Who are these tests for?

Pre-conception genetic testing – pre-conception genetics, is recommended for couples or individuals in cases of:

Family history of genetic disease
Congenital developmental defect in the patient or a relative
Consanguinity

Investigation of genetic causes of infertility is recommended for couples or individuals:

In cases of long-term infertility with no known cause
In cases of recurrent spontaneous miscarriages
In cases of repeatedly unsuccessful IVF treatment
In cases of significant sperm analysis abnormalities
In cases of reduced ovarian reserve

Even if a genetic disease or a genetic cause of infertility is confirmed, there is a chance to give birth to a healthy baby thanks to PGT – preimplantation genetic testing of embryos.

Genetic Consultation Process

During a genetic consultation, we thoroughly evaluate your personal and family medical history. We approach each patient individually – based on the consultation, we recommend appropriate genetic tests. Our care also includes long-term patient monitoring (so-called dispensarization), through which we can ensure comprehensive and professional healthcare not only for them but also for their relatives. If you wish to consult or re-evaluate an already established diagnosis or procedure, we also offer the option of a second opinion in the form of a consultation – a so-called second opinion.

Karyotype Analysis

This is a basic genetic test that examines the number and structure of chromosomes using a blood sample. It aims to detect changes that may be a cause of infertility or recurrent miscarriages.

A healthy person has 46 chromosomes arranged in 23 pairs, with one chromosome from each pair always coming from the mother and one from the father. If the chromosome number is different, we refer to it as aneuploidy. There are aneuploidies of sex chromosomes that can be associated with fertility disorders, such as Klinefelter syndrome in men (an extra X sex chromosome) or Turner syndrome in women (a missing X sex chromosome).

Additionally, structural chromosome abnormalities can occur, such as:

Deletions – a part of the genetic information on the chromosome is missing
Duplications – a doubling of a part of the genetic information
Inversions – a reversal of a part of the genetic information
Translocations – a relocation of a part of the genetic information to another position

All these disorders of genetic information are referred to as aberrations. Structural aberrations are distinguished as balanced and unbalanced aberrations.

Balanced Aberrations

This type of disorder usually does not cause problems for the carrier but can affect fertility. The individual has the correct amount of genetic material, but a part of the DNA is relocated. The most common types are:

Reciprocal translocation – exchange of segments between two different chromosomes
Robertsonian translocation – fusion of two chromosomes into one

In such cases, the carrier appears healthy but has a higher risk of infertility, miscarriage, or giving birth to an affected child, as their germ cells may carry unbalanced combinations.

Unbalanced Aberrations

In this case, a part of the genetic material is either missing or extra. This can lead to congenital defects, intellectual disability, infertility, or miscarriage.

If karyotype analysis reveals a chromosomal aberration in either partner, prenatal diagnosis, assisted reproductive technologies (IVF), and preimplantation genetic testing of embryos (PGT) may be recommended.

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Panel Genetic Testing for Individuals and Couples

These tests are aimed at detecting genetic factors that can affect fertility, the success of assisted reproductive treatment, and the health of future children. They help identify carriers of serious hereditary diseases, disorders associated with infertility in both women and men, as well as genetic predispositions that may influence the response to hormonal stimulation.

This test is primarily intended for couples undergoing infertility treatment, but individuals can also undergo it. It focuses on detecting genetic diseases that can be inherited if both parents are carriers (cystic fibrosis, spinal muscular atrophy, deafness, phenylketonuria), or those transmitted via the X chromosome – especially from mother to son (Fragile X syndrome).

Furthermore, it also analyzes genes that could explain why a couple is struggling to conceive (PLK4, ANXA5, AR, microdeletions on the Y chromosome). An added value of the test is also the determination of the patient’s individual response to hormonal stimulation, which allows for optimizing treatment during the IVF cycle and minimizing the risk of ovarian hyperstimulation syndrome.

The goal of this set of tests is to reduce the risk of giving birth to offspring affected by one of 110 clinically significant recessive monogenic diseases. In the Central European population, approximately 1-2% of children are born with a monogenic disease. This test reduces this risk by up to 10 times. If an increased risk is confirmed, preimplantation genetic testing of embryos for monogenic diseases (PGT-M) is recommended. Both couples and individuals can undergo this testing.

This test is suitable for both couples and individuals interested in determining the possible causes of infertility and factors affecting the chance of conception, even with the use of assisted reproductive technologies. This panel of tests examines 50 genes related to female infertility and 70 genes related to male infertility. The test can explain previous unsuccessful attempts at pregnancy or IVF failure. It can also assist in choosing appropriate methods within infertility treatment.

This is the most comprehensive panel of tests, which consists of a combination of genetic tests from the OPTIMAL and INFERTILITY panels.

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Preimplantation Genetic Testing of Embryos (PGT)

This type of testing allows us to genetically examine embryos even before they are transferred into the uterus of the future mother. This enables us to prevent the transmission of serious genetic diseases and the transfer of embryos with genetic abnormalities that could affect treatment success or pregnancy development.

PGT tests are divided into:

PGT-A: focused on changes in chromosome number – aneuploidies
PGT-SR: focused on structural chromosome abnormalities
PGT-M: focused on hereditary – monogenic diseases

The success rate of embryo transfers with genetically tested embryos is significantly higher than with untested embryos. However, it is important to realize that this is a diagnostic method, not a treatment. It allows for increasing the success rate of embryo transfer, but not of the IVF cycle itself. Thanks to it, couples can avoid unnecessary transfers, which has a significant psychological effect, especially during long-term unsuccessful treatment.

The testing itself is preceded by an embryo biopsy, which is a specialized gentle procedure where several cells are taken from an embryo created using IVF methods. These cells are then sent for genetic analysis. Biopsy is usually performed after five days of embryo culture in an incubator, when the embryo is at the blastocyst stage and consists of approximately 100 cells. So-called non-essential cells are taken – meaning cells that are not crucial for the development of the embryo itself. They originate from the part called the trophectoderm, which does not form the fetus but rather the fetal membranes such as the placenta. Even here, they will not be missed, as the remaining cells will replace them through division in later stages. This is a standard, proven procedure that does not jeopardize the embryo’s ability to implant and continue to develop.

While awaiting results, embryos are frozen in liquid nitrogen, similar to conventional cryopreservation. The most modern laboratory procedures are currently used for genetic testing of embryos.

Preimplantation genetic testing for aneuploidies is a genetic test whose purpose is to verify whether the embryo has the correct number of chromosomes (46). In cases where a chromosome is missing from the embryo’s chromosomal set or, conversely, there is an extra one, we refer to these as aneuploidies. Embryos formed in this way most often result in spontaneous miscarriage; in other cases, they lead to the birth of a child with a genetic disorder (e.g., Down syndrome).

PGT-A Plus

Extended preimplantation genetic testing, which allows for the examination of aneuploidies, mosaicism, and structural aberrations. Additionally, it can determine whether the aneuploidy originated from the father or the mother. The testing also includes an examination of a blood sample from the mother.

Approximately one in 200 people is a carrier of so-called balanced chromosomal changes. Although carriers of such changes (e.g., translocations or inversions) are usually healthy, they have an increased risk of forming embryos with genetic disorders that lead to spontaneous miscarriages, or potentially to the conception of a fetus with a serious genetic disease. Preimplantation genetic testing for structural rearrangements is a test that diagnoses such genetic changes in embryos. This makes it possible to select an embryo for implantation that has the highest probability of a successful pregnancy and the birth of a healthy child.

For individuals who have an increased risk of transmitting a monogenic disease, particularly based on family history, we offer preimplantation genetic testing for monogenic diseases. These are hereditary genetic diseases caused by a defect in a single gene (e.g., cystic fibrosis, muscular dystrophy, and many others). This test focuses on specific diseases known within personal or family history. Specific genes are tested, and known changes are sought within them. This makes it possible to determine which embryos do not carry the genetic disease. Only these selected embryos are then used for transfer.

Before the embryo testing itself, it is first necessary to precisely identify the genetic disease that the test should focus on. This is determined by taking a blood sample from a parent, or potentially another relative who is a carrier of the disease. Depending on the type of genetic change and the specific case, one of the PGT-M methods may be used: Karyomapping or OneGene PGT. If a reference blood sample cannot be obtained, direct mutation detection can be performed.

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Further Genetic Laboratory Tests

Cystic fibrosis is a genetically determined disease that affects multiple organs, especially the respiratory and digestive systems, and can also lead to fertility problems. It is one of the most common genetic diseases in our population and is inherited in an autosomal recessive manner. For the disease to manifest, an individual must inherit a mutated version of the gene from both parents – if they only have one mutated version, the disease usually does not manifest, but they are a carrier.

In Slovakia, the most common mutation is F508del in the CFTR gene, which can be detected not only by standard testing but also by non-invasive prenatal testing from a pregnant woman’s blood. In addition to testing for this mutation, we also offer a more detailed analysis of the CFTR gene, which detects the 64 most common mutations.

CFTR gene testing is also recommended for men with severe spermogram abnormalities (such as azoospermia or severe oligospermia). If both partners are carriers of a pathogenic mutation, the risk of cystic fibrosis in offspring can be up to 25%. In addition to prenatal diagnosis, preimplantation genetic testing (PGT-M) can also be utilized within IVF.

This genetic test reveals an inherited predisposition to increased blood clotting, known as thrombophilia. Mutations in genes for coagulation factors V (Leiden) and II (prothrombin) are most commonly monitored. Knowledge of this genetic susceptibility can be important not only during pregnancy and when trying to conceive, but also during surgeries, prolonged immobilization, or when using hormonal contraception.

Thrombophilia can reduce the chance of embryo implantation in the uterus and is also associated with recurrent miscarriages – blood clots can disrupt blood flow in the placenta and endanger fetal development.

This test determines the number of “CGG” triplet repeats in the FMR1 gene, located on the X chromosome. In a normal state, an individual has fewer than 45 repeats. Clinical consequences depend on the number of repeats – if 55 to 200 repeats are recorded, we refer to it as a premutation, which, among other things, increases the risk of premature ovarian failure in women or neurodegenerative disease in men. If the number of repeats exceeds 200, Fragile X Syndrome develops, which is associated with intellectual disability and other neurodevelopmental disorders.

AZF (Azoospermia Factor) is a specific region on the Y chromosome that plays a key role in the process of sperm formation. If a certain part of the genetic material is missing in this region – known as a deletion – it can be a cause of severe fertility disorders in men. Such deletions are among the most common genetic causes of azoospermia (complete absence of sperm in ejaculate) or severe oligospermia (significantly reduced sperm count).

We distinguish three main types of AZF deletions:

AZFa and AZFb – usually cause complete azoospermia, with a very low chance of finding sperm during surgical retrieval (MESA/TESE).
AZFc – is the most common and can be associated with the presence of a small number of sperm, which can often be obtained through surgical retrieval (e.g., by TESE – testicular sperm extraction).

AZF deletion testing is particularly recommended for men with oligospermia or azoospermia. The test results assist in planning further infertility treatment and deciding on assisted reproductive options.

Follicle-stimulating hormone (FSH) is an important hormone that regulates the growth and maturation of ovarian follicles in women and sperm production in men. It mediates its effect in the body via the FSH receptor.

However, in some individuals, so-called polymorphisms – genetic variants – may occur in genes encoding the β-subunit of FSH (FSHB) and the FSH receptor (FSHR). These variants can negatively affect the action of the FSH hormone, which may manifest as reduced fertility in both men and women.

Detecting these genetic variants helps to better understand the individual hormonal response and can be useful in adjusting treatment with gonadotropins, for example, within hormonal stimulation during IVF.

Certain genetic variants in the ANXA5 gene (annexin A5) can increase the risk of pregnancy complications, such as recurrent miscarriages, preeclampsia, blood clot formation (thromboembolism), or fetal growth restriction.

This testing is particularly recommended for couples before IVF, as the results can influence the establishment of appropriate care. In the presence of risky variants, the risk of complications can be reduced with suitable prophylactic treatment.

This test is a valuable diagnostic tool, especially in cases of recurrent miscarriages. Embryonic genetic abnormalities are among the most common causes of spontaneous miscarriage. Analysis of a sample from a miscarried fetus can help us clarify the cause of pregnancy loss and guide further steps – such as genetic testing for both partners or adjusting the strategy for planning a subsequent pregnancy.

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