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TTC, had routine blood tests done and it's come back that I'm a Cystic Fibrosis carrier

3 replies

misssmilla1 · 11/11/2014 14:35

Shock we've been ttc for 18 months and getting nowhere so 4 weeks ago we started a round of tests with our fertility clinic (we're based in the US so its a bit different to the UK) had an HSN, scheduled for a endometrial biopsy and had what felt like 3 pints of blood drawn for heaps of tests.

I signed the "I'm ok with genetic testing" and everything else form not thinking anything of it, more concerned about what the HSN and HSG were going to throw up.

Yesterday I get a call from the clinic informing me that, "oh, by the way you're a CF carrier and you should get husband checked too." If we're both carriers we have a 1 in 4 chance of having a baby with CF.

Reading about it I'm surprised to find out that about 1 in 25 people are carriers amongst Caucasian people, I never realised it was that high!

So, more tests beckon, this time for him indoors (which makes a change Grin) but this has put a much different spin on our efforts to conceive and throws up a lot of discussion about the what ifs.

I don't really know what to think atm, am mainlining chocolate digestives as a distraction..

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LittleBairn · 11/11/2014 14:40

Goodness I had no idea 1 in 25 carried the gene!
I hope your DH test come back clear and that your get a BFP soon.

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misssmilla1 · 11/11/2014 19:20

Thank you! yeah, I'm really surprised, it's not something I ever really even considered as a possibility. The next two weeks are going to be a waiting game

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Popalina · 11/11/2014 21:14

Hi,
Sorry to hear you are a carrier. As you know it's only an issue if your partner is one too. All I can say is that it is better to be well prepared in this case. It's a terrible shock to have a baby with CF when you had no idea it was even in the running. There are degrees of the disease as well.

If your partner carries the gene I believe they can tell you if your baby is affected at the 12 week mark but I am not sure if they can tell you how severe it will be. I only know as it is something that affects my close family and so I was tested for it and luckily didn't carry one of the genes they tested for ( there are a few rarer forms that they don't test for).

It's a tough time waiting for the results but there is support out there if this is an issue for you ( starting with the CF Trust).

Fingers crossed for you and good luck getting your BFP

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