Indications for Genetic Counseling
It is important for genetic counseling to take place if there is a suspicion of an underlying genetic cause for disease, as proper diagnosis often yields valuable prognostic and therapeutic information which may inform treatment and management decisions. Diseases with underlying genetic causes appear in practically all areas of medicine, including pediatrics, neurology, cardiology, and oncology.
Couples who are pregnant, planning to become pregnant, or having difficulty becoming pregnant can benefit greatly from the information genetic counseling provides. There are many possibilities and limitations of prenatal genetic diagnostics which much be considered for couples to make informed family planning decisions.
Genetic counseling and diagnostics are advisable when an individual and/or his or her family members display the following illnesses or concerns:
- Muscular and neurodegenerative diseases, as well as possibly genetic functional disorders;
- Complex disorders (suspected of being cause by a genetic syndrome) and multifactorial diseases (diseases caused in part by genetic factors);
- Deformities and malformations;
- Delayed developmental milestones and/or intellectual disability (mental retardation);
- Metabolic disorders;
- Multiple cancers in the family and suspicion of a hereditary cancer syndrome;
- Inability to conceive children and/or recurrent miscarriages;
- Planned or actual pregnancy with:
- Parents of advanced age
- Conspicuous findings in the first trimester-/triple-test or ultrasound
- Family members affected by a disease of possible genetic origin
- Persons affected by teratogens (medications, radiation, chemicals, illnesses) during pregnancy
- A planned in vitro fertilization
The required genetic testing can then be performed or initiated at our practice, within the framework of genetic counseling.