Karyotyping – a test to examine chromosomes

Each cell (except red blood cells) in the human body contains a set of chromosomes – karyotype. Chromosomes are packed with the individual’s genetic material, and karyotype is normally the same in each cell: 46,XX for females and 46,XY for males. In the event of some deviations from the normal karyotype, the individual may have no specific clinical manifestations, yet such chromosomal variations may affect the individual’s fertility and increase the risk of giving birth to a sick child. If the individual or the couple have a history of the inability to conceive a child, unsuccessful artificial fertilisation cycles, miscarriage or giving birth to children with congenital abnormalities, the couple is prescribed a test aimed at examining the set of chromosomes – karyotyping.

This test helps establish the chromosome type, their number and possible changes, which may be both: numerical (shortage or surplus of genetic material) and structural (rearrangement of chromosomes or chromosomal regions). Identification of chromosomal changes within the area of reproductive medicine prevents the use of unsuccessful therapeutic measures and makes it possible to choose other methods in a timely manner, such as preimplantation genetic screening (PGS/PGD), thereby enhancing the couple’s chances of giving birth to a healthy child.