October 17, 2022

Genetic Counselling

Genetic counseling is a health service that provides information and advice to patients and families, who are at risk for a hereditary genetic disorder. It is a communication process which can also be useful for couples and prospective parents seeking information on how to have healthy children.

During the counselling session the specialized clinical geneticist:

  1. Investigates whether a condition or a disease in a person or a family has a genetic basis.
  2. Calculates the risk for other family member to be affected from a given genetic condition.
  3. Provides information regarding the appropriate and available tests that would aid in the diagnosis of a genetic condition.
  4. After the diagnosis of a genetic disease proposes, whenever possible, available treatment options.
  5. Informs the consultants regarding prenatal or preimplantation testing options, if one or both parents are carriers of a genetic disease

Genetic counselling could be sought by all prospective parents. It is highly recommended, however, for individuals or couples faced with one or more of the following conditions:

  • Positive genetic test for single gene disorders, abnormal karyotype or complex genetic conditions
  • Couples faced with fertility problems, recurrent miscarriages and/or fetal death
  • Pregnancies at advanced maternal age
  • Pregnancies exposed to radiation, chemical agents, infections or prescribed medications
  • Pregnancy ultrasound findings suggestive of a genetic disorder
  • Individuals with a family history of hereditary cancer or cardiovascular disease.