Reproductive genetics focuses on preconceptional and prenatal testing of infertile couples and prevention of genetically determined diseases. Genetic examinations are carried out in three phases, consisting of specialised genetic counselling, clinical cytogenetics and molecular genetics. Their aim is to exclude the transmission of genetically determined diseases to the foetus. The basic laboratory examination in reproductive genetics is the chromosome examination – the compilation of the karyotype of both partners. These examinations define the genetic risks and include prenatal genetic diagnosis, in indicated cases already in the preimplantation period.

 The proper functioning of the immune system is a prerequisite for the process of fertilization and the natural development of the fetus. If, in the course of the diagnosis of infertility disorders, the physician rules out all anatomical, hormonal, infectious and genetic causes, it is necessary to consider reproductive immunology examinations.

They are applicable to women with repeated spontaneous abortions, after unsuccessful attempts of one of the methods of assisted reproduction (if conception or delivery of the fetus does not occur), when there are immunopathologies in the family, or when specific autoimmune diseases are proven.

The immunologist will perform cellular immunity testing, reproductive system testing (antibodies to sperm, zona pellucida, ovaries), screening for systemic autoimmune diseases, screening for diseases such as celiac disease, histamine intolerance, cystic fibrosis, or thyroid disease, according to individual needs. Antibodies to sperm can be detected in women in cervical mucus, in serum, or in seminal plasma of infertile men. Antibodies to the ovaries and zona pellucida are most commonly diagnosed from the serum of women by indirect immunofluorescence.