cystic fibrosis and genetic tests.

[buffythenappyslayer]

my dd has cf and ive just found out that im pg.ive spoken before to the genetics people,and they said if ever we wanted another baby,then to contact them before trying.well,i havent rang them until today.they want me and dh to go in for a chat.they said they can do some tests to see if this one has cf aswell.me and dh dont want to put the baby at risk,so i think we are going to ask them to test baby as soon as it is born.just wondering if anyone else has had these tests whilst pregnant and what they involve.

I haven't had the tests, but they will involve either CVS or amnio, whichever your local hospital advises. If you want to go ahead with the pregnancy regardless then you should probably avoid the tests, as they carry a small risk of miscarriage. They can test your baby when it is born easily enough if they know the mutation your dd has. Congratulations :)

some one told me you tested for c f with a mouth swab, but this might be wrong, she isnt the most reliable of people!!

No, she's right, carrier testing can be done like that, but not unborn babies :)

The purpose of CF carrier testing is to see if a couple is at increased risk for giving birth to a child who will have CF. Cystic fibrosis carrier testing is a laboratory test done on a sample of blood or saliva. If testing shows that a couple is at high risk, additional testing can be done on the developing baby to see whether or not it will have CF. However, most women's test results are normal.

Cystic fibrosis cannot be treated before birth. The purpose of having this information about your developing baby is so you can prepare yourself to care for a child with special health care needs or so you can terminate the pregnancy

so I am partly informed!!! :)

I am a carrier but because of a complicated family history there is a risk that my children could have CF. Genetically it wouldn't have been possible to determine whether our children would have had CF by amnio or CVS so their cord blood was tested at birth. Of my three children only one carried the mutation I have and had to undergo the sweat test susequently. She did not have CF.

Wishing you the very best of luck. My genetic counsellor was wonderful and I hope yours is too.

Buffy already knows she's a carrier though, AM, she has to be since her dd has CF. It's the baby that needs to be tested.

yes i realise that. :)
why test?
what will she/you do if you find the baby has cf?

we were told that a sweat test could be done on the baby after its born.i dont want to put the baby at risk now,so would prefer to wait until its born.if it turns out the baby has cf,at least it can start the treatment early.my dd was 6 weeks old when we found out she had cf.the heel prick test had shown it,and then we had to take her to have sweat tests done,despite them already knowing.me and dh had blood taken to see who carried which mutation.if there is a risk of losing the baby,i wouldnt want to be tested.if it turns out that it does have cf,it wont make any difference to us.yes it will be hard with having 2 with cf,but we'd cope.even if i had tests done whilst pg,i wouldnt terminate.i couldnt.its like saying would i have got rid of dd if i'd have known she had cf,i wouldnt have.i just dont want them to try to pressurise me into having the tests done now.

I wouldnt have the test before it was born then! I agree with you!
Good luck x

thanks AM.going to tell genetics they can do sweat test when its born.thats if they can,dd was 6 weeks when she had it done.dont want anything too invasive for the baby like blood being taken.dont know if theyd test the blood from the cord or not.will have to ask.im determined though that im not going to let them pressurise me into testing before its born.