Genetic testing

The basic test is cytogenetic analysis (karyotype). It involves determining the number and structure of chromosomes. An abnormal karyotype can be responsible for the couple's problems in achieving pregnancy and the occurrence of genetic diseases in future children.

In a healthy person, each cell should contain 46 chromosomes (22 pairs of so-called autosomal chromosomes and 2 sex chromosomes). Any change in the karyotype abnormalities can cause genetic diseases and may result in infertility.

Indications for testing

Genetic testing is indicated especially in couples with recurrent pregnancy loss, couples with unexplained causes of infertility, with male factor infertility, and in those in whom pregnancy does not occur (no embryos or no implantation) after several times of in vitro fertilization.

Karyotype testing is performed on both partners.

In special cases, karyotype evaluation can be expanded to include the following tests:

• In women: Thrombophilia (Leiden, Protrombina, MTHFR)

• In men: 17 CFTR mutations + 3 loci AZF, SRY, ZFY

The material for genetic testing is venous blood. Blood for karyotype testing is collected in our laboratory. You do not have to be fasting; however, active infection, taking antibiotics, relanium or other psychotropic drugs are contraindications for genetic analysis. The waiting time for the result is 4-6 weeks. You can check it conveniently through the Patient Portal.