Further testing for rare mutations?

Question

My partner is 35+ years old and is 21 week pregnant at our second child. After amniocentesis it was found that the fetus is a carrier of the DF508 mutation. Both I and my partner were tested for CF mutations. My wife is a carrier of the DF 508 mutation, but I do not carry a traceable mutation of the CF gene. However, I was offered the option to do further tests, that only became available to the lab this last month. These tests can trace rare mutations (5%). Can I benefit from this testing? What will the results of this testing mean for our 21 weeks old fetus?

Answer

Dear friend,
You may carry out this further testing to assess the really small possibility that you could also be a carrier of some CF mutation for your peace of mind and in order to rule out the thought that you are a carrier and the chance that the fetus may have CF. However, the fetus is already too old for you to proceed to an artificial termination of the pregnancy.
Yours friendly,
Dr. Stavros Doudounakis

31.10.2011

31.10.11
This question was asked on the Greek platform. It has to be stated that this is a European forum and the answer to this question and underlying recommendations and the legal situation can differ from country to country. This concerns e.g. the existance of a general screening for CF mutations without a positive family history in the frame of an amnioncentesis in some countries/regions or the legal situation for an induced abortions (timeframes, reasons).
D. d'Alquen