It's a method to inform patients and parents, in a clear terms about the disease, the risk of disease transmission within the family diagnosis, pre and post natal treatment and prevention.
It permit to:
- understand the genetic elements of a disease (chromosomic, monogenic, polygenic), the modality and the risk to transmit it(dominant autosomal or recessive, sex linked);
- inform on the possibility of prenatal diagnosis (amniocentesis, chorionic villus sampling, etc.) and postnatal diagnosis, on a possible disease development and on available preventive, therapeutic and helpful interventions;
- understand the procreative options;
- clarify the meaning of a genetic test and evaluate its reliability, specificity and limits;
- understand the meaning of the consensus to perform a genetic test.
What does it plan?
- collection of medical history of the couple and their families;
- reconstruction of the family tree;
- detailed examination of the clinical folders and their reports;
- evaluation of the instrumental and of laboratory examination, held by the couple;
- possibility to visit the individuals and make them new instrumental and laboratory examinations;
- study of scientific published paper relating to cases considered;
- consultation with colleagues of other specialist centers.