In complete shock,abnormalities on 20 week scan

[realnappiesmum]

Had 20 week scan today, showed nuchal fold at 9mm, all four limbs short and calcification on liver. Seen by obstetrician, repeating scan tomorrow. He spoke about chronsomal problems and syndromes. Didn't have information from today's scan about heart and brain but will look on 2nd scan tomorrow. Spoke briefly about amnio and other diagnostics tests, but will discuss more tomorrow after scan. Anyone had these show up on scan together, consultant said may be due also to viral infection but as three all together unlikely to be viral. Didn't say which viruses could have caused these. Husband and I heads spinning and in so much shock. Want to have some questions ready to ask consultant but just can't think straight at moment. Also worried about risk o miscarriage from amnio. Any advice?

FFS, sorry I've only just read your thread. I don't know much about this but can tell you that in a previous job I met number of paediatric surgeons and can tell you your little one will be in excellant hands and well looked after. They are amazing and will have a plan in place.
Thinking of you and baby

Saw consultant yesterday to discuss results and plan forward. Will scan every 2 weeks to see what growth is doing as little girl is small. Although she has grown a bit in last two weeks so happy about that. Having scan by cardiologist to check heart for ASD also possibility of Tetralogy of Fallot which would require surgery. Will know more in next couple of weeks. Does anyone know much about surgery for ToF? Little girl very wiggly on scan, wouldn't stay still for long consultant then towards the end of scan she gave me a real good boot, think she was getting fed up with having her house prodded!

Have you come across heartline? They support parents with heart children and do a book that explains lots about conditions, what to expect in hospital etc.

Thank you AliceHurled. I will have a look for them on internet. Sounds like they will be good. I am guessing cardiologist might know about them as well, so will ask.

My cardiologist didn't mention them, but I think they do secretly know.

Are they sending you to a specialist hospital for cardio scan?
Good luck for it, we were lucky a 1mm vsd found and they reckon it's already closed

Asd is ok, I had one since I was born, didn't affect me at all, had it closed under local when I was 33

Hi FFS, yes being seen at specialist hospital, in a couple of weeks. Spoke to gp who said if baby does have ToF then op is done daily at specialist hospitals so cardiac surgeons are very experienced in doing them which is good to know. Also good to hear that op for ASD is simple. Thank you.

heartline

Been away for a while on holiday, trying to relax. Thank you NL for link to heartline. Seen cardiologist today. No Tetralogy of Fallot. Feel relived about that.May still have partial asvd, which will need surgery when she is about 6 months old. Rescanning in few weeks time. Been looking at some of threads on special needs children , looking for info for when our little lady is here and portage is mentioned frequently. Can anyone tell me more about this?

Hope you managed to relax a bit
I've found a good forum called future of downs, take a peek as its nice to have a dedicated area where everyone has been through what we are going through
Looks like it is infancy and there are a couple of pregnant mums in there too, they also have a Facebook group which is quite lively
I also found s blog called our journey through life, lady in America expecting a DS boy called Eli in October which I subscribed too, they found heart problems yesterday on her baby
Hope you manage to settle and try to enjoy your pregnancy as you normally would

Hi,
I had a baby girl in September. She was born with massive brain abnormalities and was expected to survive the night- the only thing they picked up antenataly was a club foot! Anyway, she turns one in 6 weeks. Life is very different to what I imagined it would be, but I can honestly say it's all been for the best. My little girl has taught me so much and the strength she has shown has inspired people around her.

You will enter a whole new world when your dd is born, and if you're like me, you will look at things with very different eyes.

On a personal note, one of the most supportive people I have met in real life is a mum I met in SCBU, whose little boy was born with undiagnosed Downs syndrome. He turns 1 next month and is a joy. He had open heart surgery at a few months old and recovered very quickly. He has portage at home and he and my dd go to conductive education class together. There are several children with DS in their class. He is very close to meeting all of his milestones

You are 'lucky' in a way, because there is such a huge community of parents of children with DS that they seem to have a big voice- my friend has certainly been offered lots of advice on support services and things her DS is entitled to access. (Disclaimer, I'm not saying parents of children with DS are lucky, just highlighting that it can be more difficult to access support when your child doesn't have a diagnosis or has a multitude or rare conditions- thanks, dd )

Enjoy the rest of your pregnancy.

I see your point about being lucky, as we had abnormalities picked up on most if our scans which all pointed to DS, we refused amnio for a while as I was worried about the MC risk, when we finally did and they said baby was DS I was in a way quite relieved as its quite a well known syndrome, everyone seems to accept it much easier, also a lot of people will know how to treat our child, whereas i at first, would find it hard to approach and know how to talk to a child with other handicaps as you don't know what the capabilities of speech and understanding there are, I hope that makes sense
There is also a great support network out there for DS
You are very brave, it must have been a heartbreaking time, must still be, do you have to take a day at a time or can you look to the future?

You have a good attitude there, freshfruit

We still treat each day as a gift, and take one at a time. It's worked so far!

Just seen your update OP - that's such good news about no Tetralogy of Fallot. I know it's fixable but I'm really pleased your baby hasn't got that to deal with.

Thank you all for replies. We are starting to relax a bit now. Will be more relaxed if next weeks scan shows she has grown as her size is concern to Obs consultant. I bought a soft toy and snuggle blanket for her to have when born the other day. Not bought any clothes yet, will wait to see how growth scan goes, may need to get some tiny baby clothes. I have seen that Mothercare does them. I agree that there looks like there is a lot of support out there for families and children with Down Syndrome, which is good and reassuring. Cupoftea, do you get referred for portage and physio etc when baby born or is this something you have to chase up yourself? I have found website about portage and will have a good look at it. .

Well I personally have had to fight for everything, but my friend who has DS with DS was offered everything at a monthly DS clinic- as I said, there seems to be lots of support available. I agree about waiting to buy clothes, my last scan predicted 5lb+ and she came out at 3lb 14oz and everything swamped her!

So scans aren't accurate for size? Mine was showing at 3.5lb at 29 weeks which was 1lb over what the emails and phone apps were telling me baby should be, I'd rather not have a whopper, the OH says he is going to send it back if it's chubby, cruel boy

He was joking...

Cupoftea, sorry you've had a fight to get everything. Is care and support standard across the country? We are looking to move house and have been told to look at level of support etc offered in different areas. Does it differ between borough councils?

Freshfruit, I have heard fundal height can sometimes be inaccurate to estimate size of baby. Not sure about scans. We have growth scan this week. Fingers crossed she has grown.

Realnappies, only just found this thread. Whereabouts are you? Two friends had gorgeous babies with Down's last year and neither knows anybody else in a similar situation. One friend is in N London and could only find one other mum with a child with Down's in the whole of Camden. She would really like to meet more people with children with Down's. The other is in Devon.

Get your friends to go on the DSA website and you can find local support groups through there, or try www.cafamily.couk I think; can't vouch for latter but am in 2 local support groups already

Also look on Future of Downs, website and facebook page, FB page is very active and I have learnt more from that in a week than anything else

Second what freshfruitsalad says. Also my Obs consultant is doing referral for us to comm paediatric team who have link families to meet up with who have children with Down's syndrome. I am sure your friends will already have community pediatrician, so may be worth asking if there are link families they can meet up with.

I think it was her community team who directed her to this other child. They couldn't find anyone else. I suppose they can't be the only two babies with DS in the whole of Camden though.

My friend's DD has DS, and she says portage is a god send. She did have to ask for it though, it wasn't automatically given to her. Thank you for keeping us updated realnappiesmum it's wonderful to hear how you both are.