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PGT-M
It allows the transfer of healthy embryos, which increases the chances of pregnancy, giving birth to a healthy baby and reducing the risk of miscarriage.
PGT-M ( Preimplantation Genetic Testing for monogenic/single gene disorders), formerly known as PGD for monogenic diseases, is a genetic test for disorders in single genes (monogenic diseases). It involves evaluating the genetic material of embryos created during an in vitro procedure. The goal of PGT-M is to reduce the risk of transmitting a specific genetic disease to a child. Identification of mutations and transfer of healthy embryos increases the chance of pregnancy and delivery of a healthy baby.
The Gyncentrum Genetic Laboratory has state-of-the-art human genome sequencing technology for testing embryos. It makes it possible to detect, at a very early stage of embryo development, chromosomal abnormalities with unprecedented accuracy. At the Gyncentrum Genetic Laboratory, in addition to PGT-M, we also perform other preimplantation genetic tests, including: PGT-A, niPGT-A, PGT-SR and Karyomapping.
ABOUT THE STUDY
What is PGT-M all about?
PGT-M is a unique test, designed individually for a specific couple. First, the parents-to-be have a consultation with a reproductive medicine specialist and a geneticist. Then the laboratory prepares an individual test for them. To do this, it is necessary to obtain a DNA sample from both partners and their family members. Once collected, these samples are subjected to coupling analysis to determine the so-called “genetic fingerprint” associated with the gene mutation present in the family. In the next step, embryos created during the in vitro procedure are tested to identify the DNA variant associated with the normal gene or the gene with the mutation. The testing allows us to select the healthy and highest-promising embryos for transfer. In this way, we can increase the chance of getting pregnant and having a healthy baby, and minimize the risk of miscarriage. The PGT-M test can be performed for almost any single gene defect. It identifies healthy and mutation-affected embryos with >97% accuracy.
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Who should take the PGT-M test?
Monogenic (single-gene) diseases are those caused by a mutation in a single gene. They can be passed on to offspring by one or both parents, with the risk of passing on such a mutation depending on the mode of inheritance (autosomal recessive, autosomal dominant or sex-linked). The PGT-M test is recommended for couples who have a high risk of transmitting a specific defect in a single gene. The test should therefore be considered especially when:
- You and your partner are carriers of an autosomal recessive disorder
- You or your partner are carriers of a sex chromosome-associated disorder
- You or your partner are carriers of an autosomal dominantly inherited disorder
- you or your partner have a mutation associated with a hereditary cancer syndrome
- you have a child with a single gene defect
- the cause of the miscarriage was a single gene defect in the fetus
MONOGENIC MUTATIONS
Where do mutations in single genes come from?
Mutations usually arise completely by accident. Their appearance is independent of the will of the parents. Unfortunately, they can also be present in the genetic material of the cells responsible for reproduction, i.e. egg cells and sperm cells. A child can inherit a monogenic mutation from one or both parents, while it does not always have to manifest itself in the parent, i.e. cause symptoms of the disease. Such a person is said to be only a carrier, who, although he has the defective gene, does not have the disease himself. The problem arises when the carrier unites and plans offspring with a person who also carries a mutation in the same gene. Then there is a high risk of transmitting the disease to future future offspring. PGT-M tests can identify this mutation, thereby significantly minimizing this risk.
The PGT-M preimplantation test can identify mutations responsible for such diseases as:
- cystic fibrosis
- phenylketonuria
- Huntington’s disease
- hemophilia
- Duchenne and Becker muscular dystrophy
- SMA
- tuberous sclerosis
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