Genetics

Genetics and Fertility: What Can We Detect?

Genetic examinations play an important role in diagnosing infertility and planning a healthy pregnancy.

They help detect the causes of repeated failures, genetic disorders or risks, that could affect the baby's development.

Here are three types of examinations that can significantly contribute to treatment success and prevention.

  • Genetic testing of partners
  • Preconception genetic testing
  • Preimplantation genetic testing

Preconception Genetic Testing

PANDA (Panel Diagnostic Analysis) is a top-quality genetic blood test designed for couples who are planning a family. It is ideal both for those who want to conceive naturally, as well as for couples using assisted reproduction methods.

PANDA Basic

It tests the 5 most common rare diseases in our population:

  • Cystic fibrosis,
  • Spinal muscular atrophy,
  • Non-syndromic deafness,
  • Fragile X syndrome,
  • Phenylketonuria.

The test also analyzes genetic variants associated with:

  • Fertility disorders and their treatment,
  • Genetic causes of infertility or embryo development disorders, thrombophilic mutations.

Suitable for:

  • Couples who want to understand their genetic health and are looking for a basic examination before planning a pregnancy.
  • Couples who have problems with conception or are experiencing recurrent miscarriages.

PANDA Carrier

It includes all PANDA Basic examinations + analyzes up to 110 of the most common recessive monogenic diseases.

In addition to cystic fibrosis, spinal muscular atrophy, fragile X syndrome, and deafness, it also focuses on disorders of vision, hearing, the musculoskeletal system, and skin.

According to the recommendations of the American College of Medical Genetics (ACMG), such a test should be offered to all women and couples planning to have a child.

Suitable for:

  • Couples who want to obtain a comprehensive overview of their genetic health.
  • Couples with a history of genetic diseases in the family.
  • Anyone planning parenthood.
How does the sample collection take place?

  1. A blood draw is sufficient for the test. The sample is then sent to the laboratory.
  2. In the laboratory, DNA is isolated from the sample, which is then analyzed by specialists in a molecular genetic laboratory. The data is then processed using bioinformatics.
  3. The examination concludes with a comparison of your mutated genes and determination of the genetic compatibility of the couple – this provides important information about the health of your future child.
  4. Complete PANDA test results including a description of identified mutations are delivered to you within 4-5 weeks from the sample collection. After the results, a consultation with a clinical geneticist follows, where any findings and risks are discussed in detail.
Does the collection hurt? And do I need to come fasting?

It is a standard blood draw that does not require special preparation.
You do not need to come fasting – you can eat and drink as usual.
The collection takes only a few minutes and is performed by an experienced healthcare professional.

What is the result of the examination?

The result is a clear genetic report that contains:

  • Partner compatibility – whether both of you carry a gene for the same serious hereditary disease.
  • Risk of transmission of genetic diseases – allows for better planning and prevention.
  • Recommendations for the next course of action.
  • The test also helps clarify why conception is not successful, why recurrent miscarriages occur, or why embryo development fails (e.g. during IVF).
  • The examination can significantly increase the chances of a successful pregnancy.

Preimplantation Genetic Testing - PGT

PGD and PGS are methods of genetic examination of embryos before their transfer into the uterus during an IVF cycle. PGD is performed when there is a risk of transmitting a genetic disease, and PGS when no genetic disease is known in the parents.

An incorrect number of chromosomes (aneuploidy) in an embryo can be the cause of implantation failure. Embryos with aneuploidies often lead to spontaneous miscarriage or the birth of a child with genetic disorders, such as Down syndrome or Edwards syndrome. Only an embryo with the correct number of chromosomes has a chance for successful implantation and a healthy pregnancy.

⚠️ The risk of aneuploidies increases with a woman's age, which is the main cause of the decline in fertility after the age of 40.

How does the testing take place?

Genetic screening of embryos is performed during their development in the laboratory.

A small sample is taken from the embryo – either one cell on day 3, or 3 to 5 cells on day 5, when it is already in the so-called blastocyst stage. This gentle collection is called embryo biopsy.

Subsequently, in a specialized laboratory, DNA – the genetic material – is examined. Thousands of small DNA segments are analyzed to determine whether the embryo has the correct number of chromosomes. Each chromosome contains important instructions for the child's development.

It is important that the test results are known before the embryo is transferred into the uterus. Thanks to this, we can select the one that has the greatest chance for healthy development and successful implantation.

What is the difference between PGT-M and PGT-A?

  1. PGT-M (Preimplantation genetic testing of monogenic diseases)
    – Focuses on specific hereditary diseases that are already known in the family (e.g. cystic fibrosis, spinal muscular atrophy, Huntington's disease).
    – Allows for the selection of an embryo that does not carry the given genetic mutation.
    – Suitable for couples who know about their genetic burden or have a history of serious disease in the family.
    – Uses precise methods such as Karyomapping or OneGene PGT.
    – Testing takes approximately 3 weeks, embryos are frozen and then those without the genetic defect are selected.

  2. PGT-A (Preimplantation genetic testing of aneuploidies)
    – Monitors the total number of chromosomes in the embryo. It looks for so-called aneuploidies, meaning whether the embryo has extra or missing chromosomes (e.g. Down syndrome).
    – Helps select an embryo that has a normal chromosome count, and therefore a higher chance of implantation and healthy development.
Who is PGT-A testing suitable for?

  • Advanced maternal age (usually over 35), as the risk of genetic errors in embryos increases with age
  • Recurrent miscarriages – PGT-A can detect genetic causes
  • Repeated unsuccessful embryo transfers during IVF
  • Previous pregnancy or miscarriage caused by a genetic disorder
  • Impaired sperm quality – especially with a high percentage of pathological forms
  • Identified chromosomal abnormalities in one or both partners
  • Couples after oncological treatment (chemotherapy, radiation), which can affect the quality of eggs or sperm
Who is PGT-M testing suitable for?

PGT-M (preimplantation genetic testing of monogenic diseases) is intended for couples who have an increased risk that their child could inherit a specific serious hereditary disease. It is recommended especially in the following cases:

  • If a genetic disease occurs in the family, for example cystic fibrosis, muscular dystrophy, Huntington's disease, etc.
  • If one or both partners are carriers of a gene mutation that is known to cause disease.
  • If the couple already has or had a child with a genetic disease.
  • If the parents want to minimize the risk of transmitting a hereditary disease to their future child.

PGT-M allows, even before the embryo transfer into the uterus, the selection of one that does not carry the given genetic disorder. It is a very important step for couples who are planning parenthood with the certainty that they have done their utmost for the health of their future child.

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