A part of the basic assessment is an interview with a geneticist with a genealogical analysis of the families of both partners and an evaluation of the health condition of both partners in terms of the risk of genetic diseases. Subsequently, the geneticist will recommend which tests should be performed for the given couple. The possibilities of genetic diagnostic services are very wide today.
Genetic testing is one of the basic assessments performed when diagnosing infertility. It is recommended in several indications:
- Long period of idiopathic infertility (inexplicable cause).
- Repeated miscarriages.
- Genetic disease in the family.
- Reduced ovarian reserve.
- More serious pathology detected in the semen analysis (sperm concentration below 5 mil/ml).
- Non-optimal cell division in embryos within an IVF cycle or failure to fertilize the eggs within an IVF cycle.
- Repeated failure of embryo implantation after embryo transfer.
Determination of the number of chromosomes in both partners. A healthy person has 23 pairs of chromosomes. Of these, 22 are pairs of autosomes – numbered from 1 to 22, and one pair of sex chromosomes – in a female it is a combination of XX chromosomes and in a male it is a combination of XY chromosomes. The normal female karyotype is therefore 46XX and male karyotype is 46XY. The most common karyotype disorders include.
- Sex chromosome pathologies – such as Klinefelter syndrome 47XXY with one extra X chromosome in a male, or Turner’s syndrome 45X0 with one missing X chromosome in a woman.
- Mosaicism – 2 existing genetic lines in an individual’s body, with each of the lines having a different number of chromosomes.
- Balanced structural chromosomal rearrangements – the exchange of a part of genetic information between two chromosomes or a change in its orientation within a chromosome that does not manifest itself in an individual, but in the case of chromosome division into eggs or sperm, genetically unbalanced gametes may be formed.
Fragile X chromosome test
A specific X chromosome pathology more common in female patients with premature ovarian failure.
Examination of azoospermic factor
A specific pathology of the Y chromosome, more common in men with severe pathology detected by semen analysis.
Examination of cystic fibrosis gene mutations
This is the most common pathological mutation in our population found more commonly in men with severe disorders detected by semen analysis. If it is present in the male partner, it is important to rule out the presence of this mutation in the female partner. In case this mutation is present in both partners, there is a 25% risk of cystic fibrosis found in their offspring. However, modern medicine can diagnose this disease either in the pre-implant stage of embryo development (i.e. before the transfer of the embryo to the uterus) or at an early stage of pregnancy (after the 12th week of pregnancy) from the mother’s blood.
Test of thrombophilic mutations in women
Test for the presence of a coagulation factor gene mutation is important in the case of a positive medical history of embolization and thrombosis in the woman’s family, as well as in the case of recurrent miscarriages. Blood clotting disorders causing increased coagulation represent a frequent cause of miscarriages in younger women, when a high proportion of miscarriages due to genetic causes is not anticipated yet.
Testing for any hereditary disease present in the family of either partner
Genetic testing of a miscarried fetus
It is very important in identifying the causes of miscarriages. Genetic anomaly of the embryo is one of the most common causes of miscarriage. Determining the cause of recurrent miscarriages is very important for the subsequent treatment of the couple.
Screening for carriers of the most common recessive inherited diseases in the population
This test bundle is offered to couples who want to minimize the risk of hereditary disease in their offspring. The test detects the presence of several dozen mutations leading to severe genetic diseases. If the same mutation is observed in both members of the couple, there is a 25% risk that their child would inherit the disease. However, most of these diseases can be diagnosed before the embryo is transferred to the woman’s uterus.
Genetic testing of donors
As a part of testing of reproductive cell donors, geneticists assess the donor’s karyotype and screen for carriers of the most common genetic diseases in our population (cystic fibrosis, spinal muscular atrophy, inherited hearing loss).
Examination of variants in FSHR and FSHB genes (rs6165, rs6166, rs1394205, rs10835638) in male infertility – (FSH – follicle stimulating hormone).