PGT-M advanced preimplantation embryo genetic diagnosis

PGT-M is a method to exclude the risk of transmitting serious genetic diseases to offspring.

At Invimed clinics, we offer advanced PGT (Preimplantation Genetic Testing) testing using the NGS (Next Generation Sequencing) technique. The quality of the tests performed is incomparable to other previously used techniques such as FISH or Array CGH. With PGT-M, which is offered at Invimed clinics, the DNA of the embryo can be examined in detail and monogenic diseases such as cystic fibrosis, fragile X syndrome or thalassaemia, for example, can be excluded or detected.

Preimplantation diagnosis of the PGT-M embryo

PGT-M, a preimplantation genetic diagnosis for a single gene defect (Preimplantation genetic testing for monogenic/single gene defects) allows a specific search for mutations within single genes that are responsible for causing so-called monogenic (single-gene) diseases, such as:

  • cystic fibrosis,
  • Huntington's disease,
  • phenylketonuria,
  • lactose intolerance
  • haemophilia.

Mutations in genes in offspring can occur as a result of the transmission of defective genetic material by one or both partners, as well as through so-called mutations de novo, or those that arise during the transmission of healthy genetic material - a so-called new mutation.

Indications for PGT-M

  • the presence of specific monogenic diseases in one or both parents, possibly among family members of partners,
  • the birth of a child with a single-gene genetic disorder,
  • Carrying single-gene genetic diseases.

How does the PGT-M study work?

The PGT-M (formerly PGD) embryo study proceeds in the initial stages in the same way as the study of the PGT-A (formerly PGS). The embryo is cultured to a blastocyst and a section of trophoectoderm is taken by biopsy for examination. 

There is a difference with a genetic test, during which a specific mutation in a gene is searched for. It should be noted that, prior to the entire IVF procedure, a case study is usually performed, consisting of sending the genetic material of the parents, often the grandparents, for genetic analysis in order to set up a proper test directed at looking for a particular mutation.

Stages of the PGT-M study

  • the patient receives a referral to a geneticist from the attending physician,
  • Geneticist - takes a history of the patients and their families,
  • prior to PGT-M testing - preparation (collection of blood for testing from relatives and description of medical history within the family) and pre-testing (genetic testing of material collected from parents and relatives) is necessary,
  • preliminary results from Igenomix ( a molecular genetics laboratory in Spain) - available to patients after approximately 6 weeks,
  • The attending physician informs patients about the qualification and preparation for IVF treatment (based on preliminary results from Igenomix),
  • performing IVF, ICSI or IMSI,
  • An embryo biopsy is then performed (an experienced embryologist takes a fragment of the trophoectoderm of the blastocyst) - this takes place on day 5 or 6 of development,
  • followed by protection and preparation of the embryo fragment for transport - this involves placing the fragment in a special tube with preservative fluid)
  • the sample is transported by air to the Igenomix laboratory (Valencia / Spain),
  • Vitrification of embryos occurs at the blastocyst stage,
  • Igenomix, PGT-M - prepares genetic analysis,
  • genetic report (available after approximately 2 weeks),
  • transfer of healthy embryos.

Why is the PGT test worth doing at Invimed?

Why is the pre-implantation genetic PGT test performed at Invimed incomparable to other centres in the country offering this test?

Invimed infertility clinics cooperate with Igenomix, a molecular genetics laboratory set up by a group of scientists in 1996 at the University of Valencia in Spain. The group has extensive experience in carrying out genetic tests related to human infertility. It is not only a laboratory providing diagnostic services, but also a research centre (Igenomix Research) and a foundation (Igenomix Foundation) whose aim is to translate scientific knowledge into reproductive medicine based on proven knowledge of genetics.

The Invimed clinic is the only one in Poland to perform the MitoScore test together with the preimplantation examination. This is a mitochondrial biomarker developed by Igenomix, which we use as an indicator of the embryo's energy status. The MitoScore is taken into account when determining the order in which embryos with the highest probability of implantation are selected, thereby increasing the chance of IVF success.

Substantive consultation:

Dr Marta Bogucka, head of the embryology laboratory at the Invimed clinic in Warsaw, senior embryologist. Graduate of the Warsaw University of Life Sciences (SGGW) with extensive scientific achievements, as confirmed by her PhD degree obtained in 2019.