Friend at high risk of Downs - help

[downbutnotout]

I apologise in advance if any of this is offensive to anybody but I really need help for my friend.

She will 13 wks pg tomorrow and has just been told that her risk of having a Downs baby is 1 in 6. This is a longed-for pregnancy after two previous miscarriages, but she is very clear that she cannot be a parent to a baby with Downs and she is extremely distressed. If the tests reveal that is the case, she will have a termination. She is currently in the agonising process of choosing between CVS with a 4% risk of miscarriage and waiting till 16 weeks for an amnio (with 1% risk), when she might be carrying a perfectly healthy baby. At the moment even a single day of waiting to hear the news feels intolerable to her.

I am wondering if there is anywhere (website, advice line, mn thread) she can get impartial support and advice. It is important that she won't be judged on her decision to terminate. Please help.

I have no experience of this but i know the downs website is

www.upfordowns.com

hi downbutnotout

how nice of you to think of finding your friend some support. just one quick thing - probably best not to use the phrase 'a Downs baby' - it's much nicer to say 'a child with Downs' as you have later on. It can be upsetting for some people.

That aside, there's a really good charity called ARC - Antenatal REsults and Choices - who have a helpline she could call. They can put her in touch with someone who's been through the same thing and chat to her.

fwiw, I had the same thing with a very high risk. we opted for a CVS because the chances of miscarriage are very low - only about 1.5% iirc, not sure where 4% comes from? I could be wrong - and if you go to a good fetal medicine centre where they do a lot of them, apparently it's even lower. A CVS also gives you results earlier than an amnio, so you have longer to decide what to do.

I would really recommend she calls ARC or posts on here - I got lots of support on here and people were totally non judgmental.

ARC

This was my thread back then Here if it's any help.

Latest bumf I got from Queens Charlotte's maternity hospital in London is that CVS and amnio both now have a 1% chance of miscarriage - I think it is worth going for a CVS as soon as possible.

I really do feel for your friend.

I had an amnio at 15 weeks, but my risk of downs was much less than hers, but high none the less.

With a chance of 1 in 6 I would be more likely to go for the CVS. If the worst comes to the worst if she has a CVS and decides to terminate, the termination at 13 weeks would not be as traumatic as having to terminate a 16 or 17 week old foetus.

I hope she gets the advice she needs and doesn't feel judged by anyone for her decision. She is no doubt feeling terrible already

Thanks so much everyone. The figures quoted for miscarriage rates are the ones given to her by our local hospital. She queried them and they seemed to be saying that 4% was the national rate for CVS.

I've had amnio - not for downs, but a history of a chromosomal abnormality in my family.

With amnio, you get a result. It's a definite yes or no. I wanted the certainty one way or the other.

And re: risks of miscarriage. The professor who did mine, suggested that in hospitals with specialist units, the risk of miscarriage is lower. I don't have any evidence for this, but it does make sense.

I was told by a very, very senior consultant and specialist in one of the top units in the country (where CVS was invented actually) that in their opinion there was no increased risk at all in opting for CVS. the only difference in apparent risk is 'background risk' - ie that you are much more likely to naturally miscarry in the first three months-ish - ie at the time when CVS is carried out, as opposed to later on when amnio is carried out. If she really doesn't want to have a child with Downs, so is considering termination, then I would think that choosing CVS makes much more sense as there will be less of a traumatic wait for results, and, if the result is positive for Downs, a much less difficult termination.
I am sorry your friend is having such a difficult time starting a family.

Risk of cvs is very dependent on when you have it done (I had mine at 13+6 - last possible chance) and who does it - I opted for someone who specialises in cvs only and he was excellent - his rate was way lower than the 2% I was told is the national figure.

ARC (recommended above) are fantastic, they should be able to help with a realistic view of the relative risks.

4% is much higher than any of the quoted risks for CVS I've seen (1 - 2 %). I'm booked in for CVS on Thursday at 13+3. The risk should also be better past 12 weeks (CVS can be carried out earlier than that).

I'm just curious if your friend has ever spent any time with families who have a member that happens to have Down syndrome. I am also curious as to what she thinks it will be like to parent a child with down syndrome. It has been in my experience that generally most people know very few families who have a member with down syndrome.

If she wants to speak with someone from the UK Down syndrome association - they are very helpful with information and providing both antenatal information and support as well as post natal.

Their website is

here

My story and information is on the thread that someone else has linked too. A couple of very long posts which I will not repeat here but you can read them if you wish on the other thread.

Whilst i realise this is a tough time for you and your friend. Terminology is so powerful in influencing our views. It is actually more appropriate to refer to people with down syndrome as that rather than downs baby/child/adult etc. It is not upsetting - I just believe that it is important to see the person not the disability. My daughter happens to be a little girl who has down syndrome. She is not defined by the condition - it just happens to be one part of many that go to make her the person that she is.

Thanks everyone again. My friend had a more detailed scan this morning and none of the "soft" markers for Down syndrome were found, so she has tentatively decided to have the amnio in three weeks, but has left her options open.

eidsvold I really appreciate you posting so sensitively. I realised I was opening a can of worms with the op. Had you asked me last week I would probably have said that I would never have a diagnostic test myself, as any risk of mc is too high (I have had 3 mcs and am also pg). Going through this with my friend has shaken me up though and I still don't know what I believe. I have a dd and I understand very well now that we cannot choose the person that our child is and that in spite of that we feel such incredible love for them. My two eldest nephews have learning disabilities yet are happy, loving boys. It is so hard to be placed in the position of chossing someone's right to life and balancing that against our the needs of our existing families and our capacity as parents.

I think I'm just rambling now, but I wanted you to know that neither I or my friend would take this decision lightly.