Genetic counselling

Genetic counselling is the study of the transmission of a hereditary disease to offspring. It is carried out through clinical assessment and specialised tests, including biochemical, cytogenetic, molecular tests, etc.

The most common reasons why couples seek genetic counselling are when there is a history of one or more cases in the family of disorders that may be hereditary, either to prevent their occurrence, or when there is already an affected child, to learn about the management of the disease itself, its progression and prognosis.

What are the objectives of genetic counselling?

• Providing information about the diagnosis, prognosis, and treatment of the genetic disorder.
• Understanding the transmission mechanism and its probability.
• Proposing reproductive options to prevent transmission.
• Facilitating adaptation to the problem and its transmission risk.
• Encouraging individual choice of acceptable options based on risk, objectives and values.

Geneticists will explain to the couple how the disorder they carry is inherited and the probability of it being passed on to their children. They will also consider aspects such as the cost-benefit ratio of performing the test and the possible decisions and psychological consequences that such information may entail.

This visit is scheduled by the Assisted Reproduction Unit, where you will be informed of the documentation that the geneticists need in order to carry out a proper assessment.