Genetic testing of the couple should start even before the effort to get pregnant (conception) - that is why it is called preconception examination. Assessment of personal and family medical history (anamnesis) may draw attention to the risk of disease with a hereditary component, which has already occurred in the family and can recur in the next generation. Another task of preconception genetic testing is to uncover hidden carriers of hereditary diseases of prospective parents, which can occur for the first time as a serious disease of their children. Employees of the genetic center of GENNET have experience and laboratory facilities needed to assess the preconception risk and to design and implement preventive measures.
Preconception genetic testing usually includes:
- Clinical genetic testing - analysis of personal and family history of both partners in the context of genetic counseling
- Examination of chromosomes of both partners. Chromosomes are microscopically visible formations in the cell nucleus where blocks of genes are located.
- Examination of dispositions for blood clotting in women (thrombophilia Leiden mutation of F5 gene and mutation of gene for prothrombin F2) and other congenital dispositions relevant to the response to treatment by methods of assisted reproduction and to the course of pregnancy (e.g. estimation of response to hormonal therapy with examination of FSHR gene)
- Testing for hidden carriers of the most frequent hereditary diseases - in our population mainly cystic fibrosis (CF) and spinal muscular atrophy (SMA), but in addition it is possible to detect other rarer diseases that can affect the senses of a child (e.g. hearing impairment) or metabolism (congenital metabolic diseases).
- Men with severely impaired sperm quality we recommend the examination of losses (microdeletions) of material on the Y chromosome (AZF - azoospermia factor)
According to the results of preconception examination it is possible to design the optimal treatment with methods of assisted reproduction and decide on the suitability of preimplantation testing (PGD or PGS) as well as planning care of a future pregnancy (prenatal diagnosis).