Genetics

CONSULTATION WITH CLINICAL GENETICIST

Consultation with a geneticist is appropriate if factors that could endanger the child’s conception in a natural way are present in the partners' family. Such factors include, for example:

• congenital malformation such as cleft lip or palate, mental retardation, heart defect, growth disorders, etc.
• cancer is more common in the family
• the woman or women in the family suffer a higher number of repeated abortions
• the woman is over 35 years old and is considering pregnancy or is already pregnant
• if the partners are related

Together with the partners, the geneticist will go over a general personal and family medical history. Based on the findings, the physician can recommend blood tests for the most common diseases occurring in the population (e.g., Cystic fibrosis), or others that may be considered as essential in the particular case. We believe that having the possibility to discuss the potential preimplantation of genetic diagnostics with the geneticist, the so-called Preimplantation Genetic for Aneuploidies (PGT-A), or Genetic Testing for Monogenic Diseases (PGT-M), represents for our clients a very essential and beneficial opportunity. So far, they remain the only preventive methods that can detect the embryo's genetic abnormalities before the onset of pregnancy.

THE PGT CYCLE PROCESS

The woman is stimulated with medication to extract the highest possible number of eggs. In the embryology laboratory, the eggs are then fertilized with sperm from her male partner and cultured. For preimplantation testing, the embryos must meet strict quality criteria. Our experienced embryologists then perform a blastomere biopsy. Next, the retrieved embryo cells are sent to a genetic laboratory for examination. The biopsy does not affect the embryo's genetic information or its ability to get implemented in the endometrium.

Subsequently, the embryos are frozen, while we are patiently waiting for the result. Based on genetic testing results and consultation with a geneticist, embryos suitable for transfer are selected. Then, the physician prepares the woman for the embryo transfer. If a woman is insured in the Czech Republic and the clinical geneticist recommends PGT, our center provides this genetic testing free-of-charge.

PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDIES (PGT-A)

Based on the testing of selected chromosomal numerical aberrations (the so-called aneuploidy), we can exclude chromosome trisomy (e.g., Down syndrome, Edwards syndrome), monosomy (e.g., Turner syndrome), or other chromosomal numerical deviations.

PREIMPLANTATION GENETIC TESTING FOR MONOGENIC DISEASES (PGT-M)

This genetic diagnosis is appropriate in couples with a mutated gene, or where at least one of them is found to have a structural rearrangement of chromosomes – such as translocation (carriers do not show developmental defects and disabilities. However, there is a high risk for the offspring). This testing is further suitable for couples, where one or both are carriers of a monogenic disease (e.g., Cystic fibrosis, sickle/cell disease, Marfan syndrome, Hemophilia), or have hereditary predispositions for breast and ovarian cancer (BRCA).

PGT is linked to the treatment at the center of assisted reproduction. Therefore, the couple should be thoroughly informed about the possibilities of the methods mentioned above.