Genetic Counselling

Genetic counselling involves discussions with an expert in genetic disorders (a genetic counsellor), your doctor and other members of the health care team. They will give you information and support as you consider what might happen if you were to have more children, and make decisions that are right for you.

With autosomal recessive and autosomal dominant inheritance, the probability of a child inheriting the mutation is fairly clear. It is much more difficult to predict what may happen with maternal inheritance. Essentially every child will inherit the mitochondrial DNA from their mother, but the severity of their symptoms is random and variable. Children may not be affected in the same way as their mother and each child may be affected differently.

You may also be offered prenatal genetic testing. This is a good option but can only be done when a specific gene mutation is known within the family. Prenatal testing checks for genetic mutations in a sample of cells taken from the placenta.  These cells are similar to those of the developing baby (fetus). This procedure, called Chorionic Villus Sampling or CVS, is done about 10 to 12 weeks into the pregnancy.

Having this test available has helped couples decide to go ahead with planning a pregnancy, even when there is a history of severe mitochondrial disease. It improves their chances of having a baby without the disorder.

Before proceeding with counselling for prenatal testing, you and your partner may want to discuss what would happen if there were an abnormal result.

  • Would you be willing to end the pregnancy? If you would not choose abortion, do you really want to proceed with testing, as the results will not change the outcome of the pregnancy.
  • How you would prepare and cope with the emotional distress?
  • What if the results are not definitive? Would this cause you more anxiety?

We recognize that this is a difficult process for you and your family. We are here to give you support and the best information that is available. Genetic counselling will let you explore the possibilities and make decisions that are best for you.

As a parent of a child with Mitochondrial disease, you may be worried or concerned about the future and whether it would be possible for your child to have healthy children. Individuals with Mitochondrial disease are able to have healthy children, but each person’s condition and situation is unique. It is important to discuss your specific situation with your specialist and genetic counsellor.

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