High risk of down's (1 in 5) with heart defect - has anyone has this?

[RememberToPlaywiththeKids]

I am just wondering what the chances are actually that our baby doesn't have down's syndrome, though we are expecting that it does. We are not going to go for the invasive testing but I am very interested to hear about other people's experiences who have had a similar pregnancy (not sure how explain it better).

My age = 40
Nuchal = 2.85
HCG = 2.7
PAPP-A = 0.9

Risk of down's given at 1 in 5

At the 20 week scan they found a small hole in the heart but on further investigation by 'the man' at 22 weeks the diagnosed a partial AVSD (hole in heart + valve defect).

The clinican's views are that we should be very surprised if baby doesn't have Down's syndrome. When pushed the said they thought that they were 95-100% certain. The saw a couple of chorionic cysts in the brain (could be nothing or could be soft marker), nasal bone present and all ther measurement totally fine.

I would love to hear from anyone who has any thoughts either way or has / had a similar experience.

xxx

I don't have any personal experience of this but just wanted to reply anyway to show my support. I would say that the 1 in 5 is reasonably positive but coupled with the other factors I suppose the likelihood of Downs is fairly high. How are you feeling about this? Do you have any other children, and do you have any experience of children with Downs? Do you have a supportive network of family and friends nearby?
I think you will be offered lots of support and guidance through the hospital if s/he does have Downs, but no doubt it will be an emotional journey. I would think there are lots of support groups run by parents that you could access in advance of the birth to prepare yourself.
I work with children and have experience of a few with Downs - I can honestly say that you soon forget about the 'label' and just see the child, with his/her own unique personality. As with all children, they have naughty moments, fun moments, infuriating moments, hilarious moments, absolutely charmingly endearing moments... I hope you get some replies from parents with more direct experience who will offer you some support.

I don't have any experience ( pg before this level of testing was available)but I do know several children with AVSD who don't have Down's. They're not mutually exclusive although AVSD is the most common heart defect in children with Down's.

I can point you in the direction of support for families of children who have heart defects if you need it, now or in the future.

And congrats on your pregnancy

Thank you both so much for replying. yes pleased I would love the heart defect support group details if you have a mo. That would be wonderful.

Yes I feel the same way from my walk through life and the few people that I have met with DS. The people i have come across have been very severly effected but i think the heart defect is worrying me and the birth and if LO is going to be too poorly for me to breast feed etc. I think it's all the unknowns.

It'shere I moderate there - it's locked down at the moment so you can only view/post when you've signed up, but they're a really helpful & supportive group.

Hi,

sorry to hijack, but could I ask you a question?

I am going through the same thing at the mo, 12 weeks and Downs risk 1/3.

Who scanned for the heart defect? 'the man' is that prof Nick? Did you get a referal or pay to see him?

Sorry for all the questions - we have decided to carry on but are really worried about potential heart defects.

Thanks

(PS actually on topic - I am also worried about the breastfeeding - still bfing DD1 who is 2 and its v important to me)

Hello - I'm sorry you're feeling worried too. If it's any consolation I feel less anxious about it all now than I did at 12 weeks curiously and I hope that it's the same for you.

I had my 12 week scan at UCH and the odds of DS given to me. They booked me in for a regular 20 week scan saying that if anything was spotted then, they would refer me for a special cardiac scan.

Anyway - Around 18 weeks or so I phoned up the foetal medicine unit at UCH and asked if I should in fact be having my 20 week scan in their department and they said yes I should I we sorted out an appointment then on the phone. I was scanned by a foetal medicine obstetrician at UCH (so NHS still) and he spotted a hole in the heart and then made an appointment for me 2 weeks later with a chap that comes over from great ormond st hospital - ie a paediatric / foetal cardiologist - someone who deals specifically with babies and heart defects. i was told that I was really lucky that baby was in the position he was in as it was very easy to miss what they finally diagnosed. The defect as far as they go is not a serious one and is easily repaired. They said they felt 'very relaxed about it'.

I go back at 30 weeks for another scan but they're not anticipating discovering anything new they said.

That's no help at all is it? Which hospital are you with?

I am in Devon, but quite happy to pay to see someone in London if need be (or if that's even possible) its all a bit at the moment.

I have also refused a cvs.

Thanks for your help & all the best

Can't help very much about the heart defects although ds2 had three small holes in his, however can offer advice (or at least my experience) of breastfeeding.

Ds2 has Down's and was 12 weeks premature, had doudenal atresia (I still can't spell it!), was operated on at 5 days old and had heart problems which did not require surgery.

He was tube fed, cup fed and bottle fed but I managed to get breast feeding established, even with his small mouth and large tongue and fed him for 9mths.

Hope this helps but if you want to know anything else then please ask.

Hello, not much to say except my Dd had 1:5 chance of DS, 1:17 of another chromosomal disorder, and is absolutely fine.

I hope that may be of some slight comfort.

Fanny - can you phone someone up in the fetal medicine department at your local hospital and ask them what the procedure is? I am certain that you will be given a cardiac scan as a matter of course but sometimes due to miscommunication people slip through the net. I'd get on to it more for your peace of mind than anything else.

Saggar - thank you for that - I'm on the waiting list for moderation now :)

PTA - thank you for replying - did the holes close up by themselves or were they small enough to not be considered a problem? How did you establish the breast feeding? I'm concerned that LO will be too tired to feed before the op and if they don't operate until he's 6 months old then that will be too long to keep t it if he's not getting the calories he needs (due to poor feeding). I don't seem to be able to express that much (one full bottle a day) so that's not going to help him much but I will certainly do it though with a 4 year old and a 2 year old, time will be tight for extra expressing battles. Did you know he had Down's before he was born and how has he been affected? Was it all awfully stressful?

Ohforfoxssake - gracious - it just proves that they are just numbers doesn't it. Did you go for CVS or amnio at all? Did your DD have any further soft makers at the 20 week scan or heart defects or antyhing?

remember I don't have much to add but just wanted to mention the cysts. Do you mean choroid cysts?

I am currently 23 weeks and last week discovered at a specialist scan (due to high NT) that my baby has one of these. They are soft markers but it is a weak association - the statistics suggest that 1 in 100 babies with a cyst will have Edwards syndrome. I have not read anything which suggests a link between the cysts and Downs.

FWIW I have had an all clear CVS, yet had a NT of 3.4; previous history of Downs, Choroid cysts present and I am 33.

Remember - if admin don't clear you quickly let me know and I'll give them a nudge. Although I'd need to know your user name.

I'm afraid I can't remember the exact detail but thought my experience might help:

With DS1 my nuchal was something crazy like 1:35,000 so I was totally when 3 years later (age 34) I had a really high nuchal reading (around 5 from memory)& other soft markers which put us around 1:20 risk of Downs going to 1:10 once combined with blood test + likely heart defect.

I had a CVS with 'the man' (privately I couldn't face waiting under NHS) and that ruled out any of the major genetic disorders but not heart defect. I then had a scan at St Thomas's (NHS referral this time) with one their heart specialist and they ruled out major defects with another scan about 6/8 weeks later also confirming no major defect but possible hole in the heart or similar.

DS2 age 18 months and perfect(toddler disruptiveness aside) .

Hi Nancy - my baby has 2 of these cysts which is what strengthens them as a soft marker in my situation apparently. Do you know if more than 1 means anything?

Thanks sagaar - they still haven't approved me but i can't say what my user name is as it will 'out' me in RL! I'll email someone myself do you think?

Lechat - that's really interesting - can you remember what heart defect they were thinking it might be and did he have a hole in his heart in the end or not?

remember I haven't read anything that suggests the number of cysts strengthens the association with a chromosomal disorder. Having said that there is not a lot of info out there and because I have already tested negative for Edwards my consultant is quite dismissive about them.

Remember - mail me on j a x p 6 3 at hotmail dot com (obviously leave out the spaces and put in the proper at) and I'll push it through for you.

Congratulations on your pregnancy, thought I would add my friend had a 1 in 3 chance of downs and had a baby without downs. Not sure if this helps or not. Best of luck with the rest of your pregnancy and your baby whom I'm sure will be beautiful.