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Preimplantation genetic testing (PGT, earlier known as preimplantation genetic diagnosis (PGD) and preimplantaion genetic screening (PGS)) is a wide term used for embryo genetic analysis prior to intrauterine transfer, and, therefore, prior to the pregnancy. 


There are different types of PGT:

PGT-A – screening for chromosomal abnormalities (aneupliody) that can occur in embryos of any patient, independently of their karyotype. Aneupliodies are more usual in case of advanced reproductive age and due to certain karyotype abnormalities, but in fact PGT-A is useful for any type of ART procedures, including those with donor oocytes.

With PGT-A, we can detect:

  • Abnormal chromosome number, including syndromic genotypes, such as Down syndrome, Edwards syndrome etc.
  • Partial (segmental) aneuploidy
  • Unbalanced translocations
  • Certain types of polyploidy
  • Mosaicism

According to PGT-A results, we do not perform transfers of non-recommended embryos, preventing unsuccessful procedures, miscarriage and unhealthy pregnancies.

For now, next generation sequencing method (NGS) is a gold standard for PGT-A, and with our clinic, you can have the PGT-A result even in 7 days!

PGT-M means screening for monogenic disorders in offspring. It is required for less than 1% of couples, where some specific mutations are possible to coincide resulting in birth of a child with monogenic pathology. Such a risk may be revealed due to medical history of the family, or based on preconception carrier screening for monogenic disorders.

Monogenic disorders include more than 200 of syndromes with variable health impact, and the common examples are the following:

  • Myotonic dystrophy
  • Huntington disease
  • Marfan syndrome
  • Neurofibromatosis types I and II
  • Fanconi anemia
  • Spinal muscular atrophy
  • Cystic fibrosis
  • Beta thalassemia
  • Retinitis pigmentosa
  • Fragile X syndrome
  • Duchenne and Becker muscular dystrophy
  • Type A and B hemophilia

PGT-M is performed individually for every couple, according to their mutations, and requires several preliminary steps with genetic consulting.


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