Genetics

Genetic counseling is a process in which people or family members who are at increased risk of developing inherited genetic disorders are informed about the consequences and nature of the disorder, the likelihood of developing it or how it is transmitted, and the opportunities they need during family planning or expecting a baby. Genetic counseling provides information and support to people who have or may be at risk for developing genetic disorders.

This complex process can be divided into: diagnostic aspect, which involves assessing the actual risk; and the support and advice aspect.

There are several reasons for genetic counseling:

  • existence of familial and personal predisposition for congenital anomalies or genetic diseases;
  • if you are pregnant or planning to become pregnant after the age of 35;
  • you already have a child with a genetic disorder or congenital anomaly;
  • you have two or more miscarriages or a stillborn child;
  • a possible problem that was discovered after an ultrasound or prenatal test screening.

Geneticists:

  • provide the necessary information and support to individuals or families who have genetic disorders or may be at risk of developing genetic disorders;
  • provide an assessment of the risk of genetic disorders by researching the history of one’s family;
  • provide the necessary information and support in choosing the appropriate type of testing;
  • interpret the results of genetic tests during pregnancy (screening tests, chorionic villus sampling (CVS), amniocentesis, cordocentesis) and explain possible treatments or preventive measures;
  • suggest the possibility of certain genetic disorders, such as Down syndrome, if the pregnant woman is 35 or older, but also in cases where there is a familial predisposition or she has already given birth to a child with a genetic disorder.