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Medical genetics

Genetic checking helps us find possible cause of infertility and increase success of treatment. We focuse on diseases and conditions which affect fertility and lead to birth defects.

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Medical genetics
Examination in preparation for conception, examination of infertile couples

Examination in preparation for conception, examination of infertile couples

The genetic testing of the couple should begin before the attempts for conception. The aim of the genetic consultation is to detect diseases with an inherited component, which can reappear in individual generations according to a genealogical study. At the same time, our goal is to reveal the hidden transmission of predispositions to hereditary diseases.

The geneticist indicates some of the following tests:

  • Examination of chromosomes in both partners – in case of a significant disorder of the male partner's spermiogram, we test for the loss of material on the Y chromosome (microdeletion); in women with premature ovarian failure, we test for the fragile X syndrome.
  • Examination of thrombophilic mutations in women (congenital predisposition to increased blood clotting).
  • Examination via a panel for hidden predispositions to hereditary diseases. The panel for hidden carriers contains a total of 77 genes that are inherited autosomally recessively (see Figure 1). The panel also contains some diseases inherited on the X chromosome (see Figure 2). Serious diseases primarily include cystic fibrosis, spinal muscular atrophy, congenital deafness, the panel contains predispositions to metabolic diseases.
  • Examination of the estimated response to hormonal treatment (gene examination).
  • According to the results of the examination of the couple, we propose suitable methods of assisted reproduction, we discuss the possibilities of pre-implantation genetic testing (PGT), we recommend monitoring during future pregnancies (prenatal diagnosis).
Embryo examination (pre-implantation genetic testing)

Embryo examination (pre-implantation genetic testing)

Genetic testing of embryos can be performed as part of assisted reproduction methods, i.e., before implantation in the uterus (pre-implantation genetic testing = PGT). The method of genetic testing of embryos is based on the conclusions of the genetic consultation. We provide pre-implantation genetic testing:

PGT-A -\– pre-implantation genetic testing of aneuploidies. Examination of embryos to exclude new chromosome defects.

PGT-SR – pre-implantation genetic testing for chromosomal defects.

PGT-M – pre-implantation genetic testing for monogenic hereditary diseases. Examination of germs to rule out hereditary disease, where one or both partners are carriers of disease predisposition.