Genetic counseling is a session of genetic counselor and a person(s) with inherited diseases, congenital anomalies or perons(s) at risk for these conditions. People with positive family history are also recommended to attend it. Counselor can inform about the diagnostic options amd methods, how to live with the diagnosed disease, what are their chances for the future and risk for other family members.
Indications for Genetic Counseling
- Positive family history – people, who are at risk of inherited disease and have some case in their close family.
- Pregnant women – female of higher age have increased risk of chromosome abnormality (the treshold for invasive prenatal diagnosis in the Czech Republic is 35th year of age).
- People in exposition of risks factor – chemical, physical, viral, ....
Types of Genetic Counseling
Prenatal counseling is focused on pregnant women with the high risk of having a child with some genetic problems.
- It is often based on abnormal screening findings.
- It is recommended to women, who already have an affected child, during her next pregnancy.
- The most important technique is amniocentesis.
- In some very serious cases it is recommended to interrupt the pregnancy.
- Postnatal counseling is important for people, who discover some serious inherited disease in their family (positive family history).
- Another group are families with disabled newborns (inborn syndromes).
- Pairs with two or more pregnancy losses can be also refered to the counseling.
Genetic Counseling Session
What can you expect? At first it is necessary to inform the counselor about your family members. How relationship do you have with them and if they suffer from some diseases, which have some hereditary relationship:
- chromosome abnormality;
- heart diseases;
- endocrine diseases;
From these information you can build a family tree. It is the easiest way how to understand the family history influence on your health. The onsets of a disability are extremly important. E.g. the heart attack at the age of 60 is not something unusual. On the other had the same problem at the age of 30 is very probably connected with some genetic predisposition.
Aims of Genetic Counseling
The genetic counselor can be a doctor, but it is not necessary around the world. We can also find some nurses or medical geneticists, who are able to do the genetic counseling too. It is important for the cure. The doctor can give you some medical prescription or order you to laboratory tests. Usually not at the first meeting, because for all of this they have to have your written consent.
Nowadays, the genetic counseling has another main reason or indication – patient monitoring. The counselor have to explain all the benefits and risks to the patient. Sometimes it can be a very difficult for them. The counselor should support their clients, partly it is also a psychological work. People usually attend more than one meeting according to the gravity of their disease.
- Chromosomal Abnormalities
- Prenatal Diagnosis of Chromosome Abnormalities
- Indications for Chromosome Analysis