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netwood
New Member


Date Joined Mar 2011
Total Posts : 2
   Posted 3/15/2011 1:19 PM (GMT -7)   
Hello all, I am a newbie on here and am at a loss of encouraging words for my daughter. She is 9 weeks pregnant and just received a phone call from her OB GYN telling her that she had the Delta F508 mutation gene. She does not have CF to my knowledge she is 23 yrs old and never really been sick. I guess she got the gene from me but I have had 3 children and no one has ever informed of any issues.
She is really freaking out and I am trying to research things for her so I can give her some positive feedback to set her mind at ease even just a little. She will go for more testing within the next few weeks, but I have read info about prenatal genetic testing and I am afraid of complications with her pregnancy if she allows them to do any testing to the unborn baby. We are both in agreement that regardless of the results she woould still have the baby, so is testing the fetus really necessary?
Please anyone with advice would be helpful.
 
Thanks

Gemsi
Forum Moderator


Date Joined Feb 2007
Total Posts : 1050
   Posted 3/15/2011 4:49 PM (GMT -7)   
I would say it's not really necessary no. If you're prepared for the fact that the baby might have CF, then there's no extra real precautions to take or anything, if your daughter is going to go ahead with the pregnancy regardless. I am sure the chance of harming the baby and also I believe there is a small chance of making mother infertile through testing in the womb, would be of bigger concern than maybe having a child with CF.

Has the father been tested? Testing him would at least give some indication of whether there is even the chance that her baby could have Cf. You need 2 carrier genes, one from each parent for their child to have CF, there is a 1 in 4 chance if both parents are carriers.

The good thing is, with your daughter testing positive for the carrier gene, at least they know to crack on straight away with testing off the little one when it arrives. Heel prick tests have only recently started to be used on every child. When your daughter was born they will have relied on a sweat test if their were any symptoms and also not many doctors had even heard of the condition. I had problems for 2 years before someone finally came along and noticed the symptoms in me, and I'm 25. If your other children are around this age or older, chances are they won't have been tested at birth and not having any problems to suspect CF, then testing won't have been done on them. Your other children should get tested to see if they're carriers too so when they're starting families the risk of having a child with CF can be avoided.

I hope it is a smooth pregnancy for your daughter and also that eveything turns out good.

All the best
Gem
Hey, I'm Gem with CF, age 25 and diagnosed at 2 years old. I'm from the UK and say weird things sometimes. I'm no expert but I've lived with a lot of CF.
Diagnosed with: Cystic Fibrosis, Asthma, ABPA, Clinical Depression, Mild Liver Cirrohsis, Mild Osteopenia, Erythema Nodosum. Waiting for final diagnosis on Muscular Dystrophy type thing.

andrdyb
New Member


Date Joined May 2009
Total Posts : 9
   Posted 3/15/2011 4:59 PM (GMT -7)   
Hi netwood! Of course, this kind of information is best coming from a doctor, but I'll share what I know. In order to have the disease - Cystic Fibrosis, *both* genes in the DNA pair that determines this factor must have the mutation. I am assuming that your daughter only has one mutation which means she is simply a carrier, so there should be no need to worry about her health.

Once it is known that she is a carrier however, then the immediate concern is whether or not her baby could have the disease (both genes mutated). If pre-natal testing would not make any difference to her decision (and as far as I know, there is nothing to be done for CF pre-natally, so no health benefit that I know of), then she can refuse the pre-natal testing. I know many women refuse amniocentesis because it does carry some risk to the baby and they feel as though the results will not change their decision about carrying to term.

It seems to me though that the first order of business is to genetically test the father of the baby. This can easily be done with a swab to the cheek. In order for the baby to have two mutations, they have to get one from each parent. If dad is not a carrier, then this is all a moot point and she can get on with enjoying her pregnancy.

I think every state in the US now screens newborns for CF, so if dad was a carrier and thus, there was a chance that the baby had CF, then this would be screened at birth and treatment could then begin ASAP. I would share this with your daughter and encourage her to see about having the father tested. You can't ever take the word of people on the internet as final so she should discuss this with the medical experts before making a final decision. Since most doctors are so unfamiliar with the details of CF, she will have better luck talking with a certified CF center.
http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation-accreditedCareCenters/
They'll be able to give her accurate reassurance and help her decide the best course of action. Chances are, dad is not a carrier and all will be well. Hope this helps!

netwood
New Member


Date Joined Mar 2011
Total Posts : 2
   Posted 3/16/2011 12:56 PM (GMT -7)   
Thanks to all the responders, it has put my mind at ease as well as my daughters'. We were very conerned and I was unsure about the testing on the unborn baby but I did not think that it would be worth the risk. She has made an appointment for more testing and the father of the baby is going to call his doctor as well. So I am hoping and praying that he does not have the gene. Thanks to everyone for the responses. God Bless you all and I hope you all the best. I will keep posting on here to keep you informed and thanks again.
 
Nett
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