What is analysed in a chromosomal study?

The chromosomal study evaluates the chromosomes in your cells to verify if you have a complete set of 46 chromosomes. Having too many or too few chromosomes can cause serious health and developmental issues, such as Down syndrome (extra chromosome 21) or Turner syndrome (missing X chromosome).

The study also looks for changes in chromosome structures, such as broken, missing, or extra parts. These changes can have various consequences depending on which chromosomes are affected.

What does the result mean?

A normal result indicates that you have the complete set of 46 chromosomes and no significant structural abnormalities. Abnormal results may indicate specific genetic disorders or health problems.

Why perform the analysis?

It is used to investigate chromosomal issues in you or your family, to detect chromosomal abnormalities in a foetus during pregnancy, and to evaluate whether abnormal chromosomes are affecting fertility or causing miscarriages.

When should the analysis be performed?

It may be necessary in situations such as family planning or pregnancy, when patients have symptoms that could be related to genetic disorders, and for fertility problems or miscarriages.

What sample is required?

A sample of cells is taken, usually through a blood test or skin biopsy.

Are any preparatory steps needed?

Typically, no special preparation is required.

How is it utilised?

Chromosomes are stained and observed under a microscope to create a karyotype. A normal female karyotype is written as 46, XX, while a male karyotype is 46, XY.