genetic testing whilst TTC(6 Posts)
Hi everyone, dh and I are thinking about properly TTC our first this year (have previously been NTNP and then I went back onto bc about a year ago so I wouldnt be pregnant for our wedding)
My youngest sister has cystic fibrosis and I am unsure if I am a carrier.
I asked my mom to clarify for my recently and she now says she can't remember which of the genes I carry or its possible I do not carry a gene from either parent. We are 4 children in the family and she says 1 of us does not carry any faulty gene.
She had us tested when my sister was diagnosed 20 years ago but quite quickly went into a deep depression and really can not remember much about that whole year.
I did not grow up in the UK and my doctor from that time has since passed away, not sure where my medical records are now! I just want to know if I carry a faulty gene or not, obviously since both my parents are carriers I have a high risk of carrying it.
Is this something my surgery would do or do I need to have this done privately?
The surgery might have your result as they would probably have asked for a copy of your records when you moved to the UK. If it's not in your record I'd be incredibly surprised if you couldn't be tested on the NHS. It would probably mean a referral to a genetics specialist though. If memory serves me right it's a cheek swab test so quite painless. Just make an appointment with your GP and ask.
I'd start by speaking to your GP. I have some underlying medical conditions which were looked into when I as at university 12+ years ago and when we started TTC I worried about it a lot but couldn't remember the details. In the end we saw a genetics consultant privately which cost about £350 and he spent about 90 minutes with us and wrote us a letter which was immensely helpful now we are pregnant. The NHS would have covered it but it would have taken a while and while we were in the system to have further tests in the NHS, we conceived in the meantime and it has made it a lot less stressful knowing what the facts are. It's kept me from googling every random study!
The other thing worth saying is medical advances are made every day so even if you did know what your mum had been told, the advice may have changed. Good luck!
thank you both for reply.
I have rang my surgery and waiting for a callback from the doctor, hoping he will just leave a referral for a blood test for me without having to take up an appointment time.
I am thinking I may just go privately for DH and I as it occurred to me that IF I do carry the CF gene then I will be anxious to find out if DH also carries it, I would rather get both results at once.
I have recently seen my GP as some members of my family have SMA, I saw my GP who referred me straight to a geneticist, I have my 1st appt next week. I was referred in October so it has been a bit of a wait. But they can do a blood test from both myself and my husband to see if we are carriers and you get the results fairly quickly. X
I have an appointment next week to see my GP and discuss.
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