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PGS – preimplantation genetic screening 

PGS is searching for any change in genetic of an embryo. Using this method we can control whole DNA in large sections. For PGS technology of Fluorescent in situ hybridisation (FISH) is used, which enables to analyse a limited number of chromosomes, 5 or 8, mostly those whose variations in number lead to spontaneous abortion or a birth of a child with serious genetic disability, (for example Down syndrome, Patau and Edwards syndrome). FISH method is often replaced by array CGH method (so called microchips), which enables the analysis of all chromosomes. 

Indications:

  • patient’s age over 37
  • repeated unsuccessful IVF cycles
  • repeated spontaneous abortions
  • partner with a serious disorder of spermogram
  • previous oncologic treatment of one of the partners


PGD – preimplantation genetic diagnostics

PGD means searching for a particular genetic change. It means it focuses on parents who are bearers of genetic material reconstruction between chromosomes (translocation, deletion etc.) This technology enables to select the embryo which does not bear such a reconstruction.

Preimplantation genetic diagnostics of monogenic diseases

Genetic examination of embryos, which is intended for couples with known genetic deviation and higher risk of birth of a genetically affected child. Condition of this method is that the disease is testable on genetic level, in other words, a specific variation of the gen (mutation), responsible for the disease (cystic fibrosis, spinal muscular trophy, Duchenne muscular dystrophy, Huntington disease), must be known in the family.

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