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CF carrier
- Question
- Hello,
I had a dry test and I am carrier for CF. After my results, my husband had a test(38 mutations) and he has the result:
1. No pathological mutation was detected
2. 7T polymorphism was detected.
What does it mean? Might the child have a health problem?
Thanks - Answer
- Hello,
I did not understand exactly if you are carrying a pathological mutation, but anyway, in your husband's case they did not detect any mutations (detected by regular kits).
The presence of 7 T polymorphism is not a pathological mutation.
Therefore, you may give with a chance of 50% the CF mutation to your unborn child, but as there has no mutation been found in your husband, all of your children will not suffer from CF, 50% will be healthy carriers of one CF mutation (such as you yourself), the others will not have any CF mutation.
However, there is a very small possiblitiy, that your husband is also carrier of a CF mutation, that has not been detected with the test kit (38 mutations are tested but there are some more, rare mutations, however). So in your situation, it remains a rest chance of having a child with CF of about 1/390 - 1/1100 cases depending on the mutation detection rate of the test. This chance is quite small for you as a couple (but not zero) compared to the situation if both parents are known carriers of a CF mutation.
In general, if both parents are carriers of a CF mutation, there are several possibilities: if the fetus "inherited" one pathological mutation from each parent, the child will have the disease, if it inherits only one mutation from a parent, it will be only carrier, but clinically healthy, disease free and if the child does not "inherit" any mutation, it will be perfectly healthy. Carrier status is common, one in 25 people carry a mutation, but are healthy.
We can not give you genetic advice on this platform and we don’t know your case. We recommend you to see your doctor with a geneticist specialized in treating CF, for the interpretation of your result.
Best regards,
Dr. Ioana Ciuca
- 12.02.2014
