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Anna Rüdeberg
• Wabern, Switzerland
• CFW Medical Advisor
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November 12, 2008
Genetic diagnosis of CF
 Q: Three years ago while undergoing
routine prenatal blood tests I found out that I had the genetic mutation of CF. This came as a total
shock, but my mother, father and two sisters had a genetic test done on them and they were all
carriers. I'm just now trying to do some research on it and find out what I can do to minimize the
chances of symptoms because I haven't had any yet. I would like to have more children and I did not
know if something like that would put me at greater risk. I absolutely need information about what
to watch for and anything that might put me at greater risk. I was diagnosed at 21 and now I'm 24.
Some information would be great, and if there is something I can do to help with researching this I
would be more than happy to try. Thanks and I look forward to getting some good information from
you.
Taylor Suske, Georgia, USA
A: A diagnosis of the illness Cystic Fibrosis (CF) can only be
done by sweat test and/or by genetic detection of the paired mutation necessary to establish the
diagnosis of CF. This mutation must be identified on both chromosomes of the pair n°9 which reside
in the nuclei of the cells of the body. Per definition the illness CF is present only if the
mutation is present in both of the chromosome pair.
You mention that you have one mutation
for CF, found in a routine prenatal blood test. It is not clear, however, if you carry it in only
one of your chromosomes n°9, or if is present in both of these chromosomes. You might even have
another one of the more than 1500 different CF mutations known in the chromosomes n° 9. In the case
that you have one mutation in one of the chromosomes n° 9, you would only be a carrier for CF and
your condition is called “heterozygoty”. If the mutations are present in both chromosomes n°9, the
condition is called “homozygoty” and the characteristic for CF illness would be present. A carrier
of one CF mutation is a healthy person, like your parents and sisters, and will never have any CF
symptoms. On the other hand, if you have the CF mutation in both your chromosomes n° 9 you would, in
fact, have the illness. In your case this must be clarified.
If you really have CF, on the
basis of your description you have an extremely mild form of the illness, since despite a pregnancy
until now no CF symptoms have appeared. In other words your form of CF would be so mild that no
symptoms have been expressed until this day.
This means that your present condition does not
pose any problem for a second or a third child. It is an advantage to know your genetic diagnosis of
the CF condition in the case that CF symptoms do appear before, during or after future pregnancies,
in order to treat the CF symptoms in the proper way. The diagnosis of CF is like a label, but it
does not mean that every case is necessarily a severe case of CF. From your letter it is not clear
whether you have the CF illness or not, but you seem to be a CF carrier, who is in effect a healthy
person.
Anna Rüdeberg
Wabern, Switzerland
CFW Medical Advisor
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