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Examination in preparation for conception, examination of infertile couples (preconception examination of the couple)

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).

Image 1

Obrázek 1

Image 2