What is the purpose of genetic counseling?
Rare genetic diseases and syndromes can be diagnosed by the geneticist when looking at the appearance of a patent. In some cases the diagnosis can be confirmed by laboratory testing. The results will then be explained in a further discussion with the patient. This kind of diagnostic report will explain the detected genetic variation and its relevance for the patient and his family. We can also be approached by healthy individuals if genetic diseases or disabled children have occurred in their families. Together with the consulter we will discuss whether he has a risk to develop a genetic disease in the course of his life or if there is a risk that he will transmit the genetic disease to his children.
Couples with unfulfilled desire for children consult us to discuss the possibilities to fulfill the desire for a child. For couples who are expecting a child we are able to determine the risks which may evolve for the unborn child.
To gain evidence for the genetic relevance of a disease we will firstly collect a detailed medical history of the family followed by the drawing of a pedigree. The pedigree analysis will give evidence whether there is an autosomal, recessive, X chromosomal, mitochondrial, or multi factorial heredity of the disease.
- Autosomal dominant: several affected family members, women an men, in consecutive generations.
- Autosomal recessive: Healthy parents have several affected children.
- X chromosomal recessive: Affected men in the maternal family; women are healthy conductor.
- X chromosomal dominant: Only the maternal family is affected, both, women and men are affected, whereby men are much more severe affected, or a survival of the male gender is impossible.
- Mitochondrial: Only the maternal family is affected, whereby women and men are affected equally.
- Multi factorial: Several affected individuals in a family over several generations, or siblings affected without clear heredity.
Genetic Counseling provides:
- The finding of a diagnosis in case of an unclear disease or handicap.The communication of a cytogenetic or molecular genetic diagnostic finding.
- The explanation of the recurrence likelihood of a genetic disease or genetic constitution in case of further pregnancies.
- Information of possibilities and restrictions of prenatal diagnosis.
- Offering of contact to self-helping groups, as well as governmental and private institutions.
Following a genetic diagnosis we offer the possibility to gain a full understanding of the relevance for the affected individual, their family, and the social community. In cooperation with Prof. Dr. Sabine Stengel-Rutkowski (M.D.), and Lore Anderlik, we offer a special psycho-social counseling after a genetic syndrome diagnosis for the unborn or born child. Goal of the counseling is to help parents to find a way of acceptance for the diagnosis thereby avoiding secondary handicaps.
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