Genetic test for cystic fibrosis

[amyshellfish]

I am booked in with my GP for a genetic test with my GP to have a test for the CF gene as my partner is a carrier - has anyone else had this as I don't know what to expect? What if I am a carrier too? Probably not the right section but I didn't know where else to put this.

If you are having the test, you ought to be offered genetic counselling first so you can process the results.

If you are positive then there is a one in four chance that any of your children will develop CF and a 50/50 chance that they will be a carrier.

My husband and I have a recessive gene that causes kidney failure in our children. Unfortunately, despite the odds quoted above, 3 out of 6 definitely have the disease, and we suspect our newborn does too, so that 4 out if 6 despite odds if 1 in 4. You'll either get lucky or you won't. Of course, there are other options that will be explained to you eg donor eggs/sperm, genetic testing on embryos, testing on fetus etc

Fingers crossed that you aren't even a carrier.

I have had this and they offered counselling with it. Fortunately I wasn't a carrier so it wasn't an upsetting outcome. They test for the key strains of the disease so will say to you that there is a small chance you carry a rarer form but it is small. That is what they told me anyway.

Good luck x

Thank you for replying HDEE. I have been putting it off for a long time as the prospect of being a carrier is very difficult - my DP's little boy has CF and its such a horrendous thing for him to live with. I only have 10 minutes appointment with the GP so wasn't sure how in depth they could go.

Can I ask did you have any genetic counselling? If so did you find it useful?

Thank you Totes, I appreciate it. did you have the counselling? how long did you have to wait for the results?

We did meet with a genetic counsellor, however our children were already born and showing symptoms.

We didn't know before we had children that we carried the disease so I can't answer how we'd have felt.

I'm a carrier but didn't know until after I'd completed my family.

You have counselling before you go ahead with the test but to me it was a no-brainer to have it because, as you say, it's such a horribly cruel disease. But it has to be the patient's choice - you cannot get your children screened to see if they're carriers; they won't do the test if you're under 18.

If you test positive, then you can choose to have IVF using pre-screened embryos. The test results take about 3-4 weeks from what I recall.

Well as I understood it,if you are a carrier then they need to test your partner. If he is a carrier too then your chance is 1 in 4 of having a CF baby, otherwise if just one of you is then as it is a recessive gene your babies won't get the disease but might carry it.

I didn't have counselling because I think it's only offered as the next step if it's a positive result.