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Preimplantation Genetic Testing
If there is a known genetic disorder in your family, embryos can be specifically tested for this using ICSI with PGT-M. Only embryos without the relevant mutation are selected for transfer.
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PGT-M (Preimplantation Genetic Testing for Monogenic Disorders) is a procedure in which embryos are specifically tested for a particular, already known gene mutation. For this purpose, a small cell sample is taken from the embryo and analysed in the laboratory. Only embryos that do not carry the mutation are selected for transfer to the uterus.
Good to know: Unlike PGT-A, PGT-M does not check the number of chromosomes, but specifically searches for a specific mutation. As this is an individualised test, a separate test set must be developed for each family. In addition, PGT-M requires the approval of an ethics committee in Switzerland.
There are various situations in which targeted genetic testing of embryos may be advisable. Our doctors will advise you individually on your options.
If you or your partner have been diagnosed with a monogenic disease such as cystic fibrosis, Huntington's disease or sickle cell anaemia, PGT-M can prevent it from being passed on to your child.
If both partners are carriers of the same recessive gene mutation, there is a 25% risk that the child will develop the disease. PGT-M makes it possible to select only embryos without the disease for transfer.
In the case of diseases such as Fragile X syndrome or Duchenne muscular dystrophy, which are inherited via the X chromosome, PGT-M can specifically rule out the risk of transmission.
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When is PGT-M the right decision?
If a hereditary disease is known to run in the family, many couples worry that their child could develop it. PGT-M makes it possible to test embryos specifically for the mutation and to transfer only healthy embryos. We will discuss whether PGT-M is appropriate in your situation during a genetic counselling session.
Preimplantation Genetic Testing (PGT)
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PGT-A examines the number of chromosomes and detects random abnormalities such as trisomy 21. PGT-M, on the other hand, specifically searches for a particular gene mutation that is already known in the family. Both methods can also be combined to test both the number of chromosomes and the familial mutation.
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After egg retrieval and fertilisation using ICSI, the embryos are cultured for five to six days. This is followed by a biopsy, before samples are cryopreserved and sent to our partner laboratory for genetic analysis. We then discuss the results and plan the next steps.
Step 1
Your family medical history will be recorded during a detailed genetic consultation. Based on this, the genetic analysis will be individually tailored to the known mutation in your family. In addition, approval will be sought from the ethics committee.
Step 2
After hormonal stimulation, the eggs are retrieved and fertilised in the laboratory (IVF or ICSI). The embryos are cultured, and on the third or fifth day, individual cells are retrieved for genetic testing.
Step 3
The cells taken are examined in the laboratory for genetic characteristics. The results of the genetic analysis are evaluated and interpreted.
Step 4
Based on the results, an embryo without the relevant mutation is selected for transfer and placed in the uterus. Other healthy embryos can be frozen for later use.
Step 5
A pregnancy test is carried out approximately two weeks after the embryo transfer. If you are pregnant, further examinations may be recommended.
Genetic compatibility test (carrier screening)
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Many hereditary diseases are passed on recessively. Both parents can be carriers of a mutation without having any symptoms themselves. Only when both partners carry the same mutation is there a risk for the child. Screening before treatment can reveal this constellation and provide the basis for targeted examination of the embryos with PGT-M.
Our experienced doctors specialise in modern reproductive medicine and will accompany you every step of the way.
PGT-M is one of several genetic procedures that can be used in fertility treatment. Find out more about other options at Cada here.
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At the modern Cada Clinic, located directly on Lake Zurich, you'll find fertility treatments such as IVF, ICSI, and social freezing.
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Discover answers to the most common queries about PGT here. Should your question remain unresolved, please do not hesitate to reach out to us directly.
Yes. Pre-implantation genetic testing has been legally permitted in Switzerland since September 2017. For PGT-M, the approval of an ethics committee is also required, as it involves individualised testing for a specific familial mutation. At Cada, we guide you through the entire application process.
In Germany, PGT-M is also possible in principle, but is subject to much stricter restrictions. The Embryo Protection Act of 1990 is one of the most restrictive regulations in Europe and limits, among other things, the number of eggs that may be fertilised per cycle. This can reduce the chances of having enough embryos for a meaningful genetic test. In addition, PGT-M may only be performed in a few specially approved centres in Germany. These restrictions do not exist in Switzerland, which allows for more flexibility in treatment.
PGT-A checks the number of chromosomes to detect random abnormalities such as trisomy 21. PGT-M, on the other hand, specifically searches for a particular gene mutation that is already known in your family. Both procedures can also be combined if necessary.
The process begins with genetic counselling and an application to the ethics committee. This is followed by the IVF/ICSI cycle, embryo biopsy and genetic analysis. Depending on the complexity of the mutation, you should allow several weeks to months from the initial consultation to the embryo transfer, as the development of the individual test and approval by the ethics committee take time.
At Cada, we do everything we can to make the process as efficient as possible and reduce waiting times to a minimum. We therefore recommend that you start the clarification process early so that no valuable time is lost.
The biopsy is performed on the fifth or sixth day of embryo development at the blastocyst stage. A few cells are removed from the outer shell (trophectoderm), which later forms the placenta. The inner cell mass, from which the embryo develops, remains untouched. The risk of damage is less than 1%.
PGT-M can test specifically for a known gene mutation. This requires that the mutation has been diagnosed in one or both parents. Multifactorial diseases or spontaneous new mutations cannot be detected with PGT-M.
The costs for PGT-M are currently not covered by health insurance in Switzerland. During the initial consultation, you will receive a transparent overview of all costs incurred.
Yes. In conventional IVF, the egg cell and many sperm cells are placed together in a dish so that one sperm cell can penetrate the egg cell naturally. However, other sperm cells may attach themselves to the outer shell of the egg cell. For PGT-M, this outer shell (the trophectoderm) is biopsied, i.e. a few cells are removed and genetically tested. If DNA remnants from additional sperm were to be found there, this could distort the analysis and lead to an inaccurate result.
With ICSI, on the other hand, a single sperm is injected directly into the egg. This ensures that only the genetic material of the fertilised egg is analysed during genetic testing. This precision is crucial, especially with PGT-M, where the exact identification of a single gene mutation is important.
It is possible that in a cycle, all embryos carry the mutation being tested for or are unsuitable for transfer for other reasons. In this case, our doctors will advise you on further options, such as repeating the cycle.
To help you plan for the financial burden of multiple cycles, Cada offers reduced rates for subsequent cycles. We will discuss the exact details during your personal consultation.
No. PGT-M significantly reduces the risk of the mutation being passed on to the child, but cannot rule it out entirely. Additional prenatal tests such as NIPT or amniocentesis are still recommended during pregnancy.
During a free initial consultation, we take the time to comprehend your needs and offer informed advice on your available options.
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