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genetic testing
- Question
- I wish to have a second child. I was tested for 90% of the CF mutations and I was found to be heterozygote for c.443T>C. I do not carry any other mutations. Can I start trying to have a child, or must my husband get tested as well. There is no family history. Thank you!
- Answer
- Dear friend,
I would like to know precisely for which mutations you have been tested. c.443T>C (pΙ148Τ) is a polymorphism without any clinical significance, unless there is a second mutation, 3199del6, on the same chromosome. This is the reason, that I would like to see your results to verify if you were tested for the mutation 3199del6, since 1% of all Caucasian people who carry I148T, carry the mutation 3199del6 as well (C. Castellani, 2008).
If you do not carry the 3199del6 mutation, then you are considered to just carry the polymorphism I148T and you have greatly reduced the possibility of having a baby with CF. This possibility is further reduced, the higher the percentage of CF mutations is one is checked for.
Yours friendly,
Dr. Stavros Doudounakis
- 22.12.2015
