Genetic Counselling

My friend who is also pregnant is going to have genetic counselling with her husband. I am feeling uncertain about whether I should also go?

It is unusual for a couple to seek genetic counselling unless they believe that they are in some way run the risk of passing a genetic disease on to their children. Because in almost every case, the disease does not manifest in the child unless both parents carry the faulty gene, the risk of passing on such a disease is generally very low. If you want to be extra careful, one of you could choose to undergo testing. If the tested partner did not show evidence of the genes in question, then it would not matter whether the other partner had them. The gene could be passed on, but the disease would not manifest.

There is an ethnic and geographic aspect to some genetic disorders. For example Caucasians whose ancestors have a European background run a 4% chance of carrying the cystic fibrosis gene. If your ancestors came from Eastern Europe and you are of Jewish decent, then it may be worth testing for Tay-Sachs disease. These are facts that your doctor should know and you should discuss them with him.

If, however, the family history of either one of you contains evidence of genetic diseases (such as sickle-cell anaemia) then testing and counseling are important. There are diseases such as haemophilia which are passed on by a single gene, but these are rare. In this case you may know about the situation through family lore. If you discover evidence of such a disease, you should make sure that the information is passed onto through the family.

In addition to situations where you have reason to believe that you carry such genes, your doctor may also recommend that you go for genetic testing and counseling if you have waited to have your first child until you are over 35, or are married to someone closely related to you such as your cousin. In fact in may cases, since the risk of passing on a disease rises to about 10% in first cousins, if a couple are closely related and considering marriage it is advisable to undergo genetic testing first, so that they can embark on their married life fully informed about the risk to their children.

During routine blood tests your doctor may see something that leads him to advise further testing. If you already have a child who has a genetic disease, or if the pregnancy screening tests show up a prospective problem, then testing might be advised. In general, your doctor will be keeping a close look out for any signs that testing would be helpful. In order to make his job easier, make sure you inform him of anything you believe may be relevant. This may also be a good opportunity to visit the older members of your families and quiz then about illnesses that may run in your family. +27 (0)81 885 4683

*Important : The information provided is for information purposes only. No medical diagnosis or prescription can be inferred or is implied. Please consult your doctor for medical advice.

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