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Genetic counseling

What is genetic counseling and what does it deal with?

Genetic counseling is provided by a team of physicians and/or genetic counselors in genetic institutes in hospitals or health organizations. Its purpose is to identify genetic diseases and congenital defects and, in families with affected members, to evaluate whether there is a risk that the condition will recur.

Genetic institutes deal with problems affecting both individuals and the general population. In the case of individuals, counseling is given for diseases/defects that are already known to be present in the family or that are discovered during pregnancy. In the general population, genetic counseling is aimed at preventing the births of children with congenital defects, and every pregnant woman is therefore advised to undergo blood biochemical screening tests for diagnosing Down syndrome and neural tube defects, and molecular and biochemical screening tests for diagnosing the carrier status of common conditions such as Tay Sachs disease, Fragile X syndrome, etc.
In cases where specific diseases/defects are already known to be present in a family, diagnosis is based on background data from the family, the applicant's medical history, and the birth history.

An attempt is made during the counseling session to reach a medical diagnosis (if there is a problem), and it may then be recommended that the partners undergo further tests.

They receive an explanation about each test, its implications and any inherent risks.

After all the tests have been completed, it should be possible to give them an overall explanation on the findings and the risk of bringing an offspring with a specific disease/defect into the world.

Genetic counseling is given before, during and after pregnancy (the latter in cases where the pregnancy is terminated).

Who is advised to receive genetic counseling?

  • Couples who are at risk because one of the partners or a member or members of the extended family has a specific disease.
  • Couples who have previously had an infant or fetus with a congenital defect and/or any disease.
  • Couples who have undergone termination of pregnancy because the fetus had a congenital defect or a genetic disease.
  • Couples who are related (consanguineous).
  • Couples who have experienced at least two early miscarriages.
  • Women who have been referred for prenatal testing (amniocentesis or chorionic villus sampling) because they are over the age of 35.
  • Couples who have received an abnormal result in a molecular screening test.
  • Couples who have received an abnormal result from amniocentesis or chorionic villus sampling.
  • Couples where an ultrasound test of the fetus revealed an abnormal finding.
  • A mother who has been exposed to medication or viral infections during pregnancy.
  • Healthy couples without any risk for a genetic or other defect who are interested in knowing more about the screening tests they are advised to undergo.

Genetic counseling for common diseases

Genetic counseling of a different kind is available for common diseases, such as cases of familial cancer, etc. This has nothing to do with the counseling given for the diagnosis of fetal problems. Genetic counseling for common diseases is aimed at preventing the onset of these diseases in genetically susceptible individuals. Risk groups are identified based on precise genetic tests, and after the individuals who are at risk have been identified, certain management strategies can be recommended such as alteration of behavior, referral for routine tests, and sometimes preventive surgery. It is envisaged that this type of genetic counseling will have a prominent role in the preventive medicine of the future.
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