Downs prenatal diagnosis

[eowynk]

Hi everyone I am new hear. I'll tell you my story so far. I am 15 weeks pregnant and at my 12 week scan I had a my measurement of 2.7mm not hight but higher end of the normal scale. My bloods then came back with high HCG ( I have had bad sickness since week 5) which gave me a risk of downs of 1 in 47 ( I am 33 and my first baby). So I was offered nipt blood test as well as the other options which I had to pay for. That can eback last week as high risk greater than 95percent chance of downs. So they recommended I have an amniocentesis which I have booked for today. I know the results will come back saying the baby has downs and we have already made the decision not to terminate. But my reasons for having the test are to show which type of downs the baby has. As if it's translation there is a chance it was inherited and that is important information for us if we decide to have more children. My main issue is not the diagnosis it's every thing that comes after. I haven't really been told what other monitoring scans ect I will need and so far been given no info on new born care for a downs baby. I live in Buckinghamshire and would really like to hear from those who have been in this position and how things have been. Any support groups around or mums that can give me advise or point me in the right direction.

I was told similar at 20 week scan and had amnio, result cam back negative for downs so wait until you have a definitive answer first would be my advice
isn't it down to an additional chromosome - i think it can happen to anyone. In most cases it happens during the development of the foetus and is not hereditary so future pregnacieas can be unaffected

Yep extra chromosome 21 bit in rare cases it can be attached to chromosome 14 (called translocation) which again in rare cases can be passed on by a health carrier). Anyway went for my amnio earlier and on ultrasound the amniotic sac had not fused with the chorion yet so the consultant has rescheduled for next week as the risk of misscarge is too high. She also said by looking at my results she felt I was more likely 50/50 chance of downs rather than the greater than 95 percent the Iona test computer came out with. She was lovely. I'm not hanging all my hopes on it as I know I need to be realistic bit she did put my mind at ease a bit and I can try and feel more positive this coming week. We did find out the sex though which for just under 15 weeks I was impressed with the clarity of the ultra sound picture and it feels about more real now we know we are having a boy. I still would love to hear from others who have been though this though.

Hi there . Congratulations on your pregnancy with your baby boy. Two years ago I was in the same position as you (though I chose not to have the amino). I now have my amazing 18 month old who has DS. To answer your question, the rest of my pregnancy was fairly routine. At 20 weeks I had a very detailed scan where they were able to examine her heart and other organs closely. This was repeated every few weeks and no problems were identified. They kept a particular check on the placenta as blood flow can reduce in DS pregnancies and in the later weeks I had to watch the baby’s movements closely and in the end my baby was delivered 4 weeks early due to the placenta and reduced movements. We stayed in hospital for a week due to jaundice and weight loss (but both my previous babies had had both these albeit to a lesser extent). She passed all her newborn tests (apart from hearing and has now been diagnosed with glue ear - again my eldest has this too!) including an echocardiogram which confirmed that her heart was completely normal. She is now a very healthy 18 month old . There is lots of support available eg the Downs Syndrome Association which can link you to local support groups and a Facebook group called The Future of Downs which also has a subgroup for pregnant women. Please feel free to pm me if you would like to. Enjoy your pregnancy and look forward to meeting your son who will no doubt amaze and delight you.

Thanks I will take a look at the Facebook page. May I ask did your daughter have much delay in milestones and if so what sort of help or therapy did you find worked best for her and your family. I feel like if I have the positive result I'm going to turn into a pushy mum to try and make sure he doesn't get too behind and teach him as best I can how to do all the things he will need to succeed in this world. Also you said she had to come early were you induced or did you have to have a c section and how was it for you?

She is fairly delayed, yes. She has hypotonia and hypermobility so is not crawling yet. She's not talking either. But you will find the more you get to know about DS that each child is so different & all develop at their own pace. We have a great team of therapists around us (physio, SALT, portage, OT and a paediatrician), but of course resources are limited so you are wise to pre-prepare as there will be lots you can do yourself to help him reach his potential. I had a c-section but this was only because I had had 2 previous c-sections, so I don't know any different ;)

How’s things OP?

I'm fine had the amnio today. Wasn't nearly as bad as I thought it was just a bit stingy. Seams weird that I'm praying for confined placental mosacim but no matter what the result the consultant wants to see me in three weeks for a detailed scan.

Hi OP. I’m glad the amnio wasn’t too awful.
My DD, now 4, was diagnosed postnatally with T21. The hospital did a blood test and established it was the bog-standard variant. I was hoping for something a bit more glam,
like mosaicism, but no.
Mosaicism and translocation are pretty rare, so I wouldn’t focus too much on those possibilities at this stage.

In terms of development, my DD is pretty delayed compared with a typical child. She has very low muscle tone and hypermobility, so she didn’t sit unsupported until well after her first birthday, and commando crawled until she was 2-ish. She started taking some steps just before Christmas last year and is still very wobbly - manages a few steps and then collapses. But she’s definitely at the severe end of gross motor development delay - most of the children I know were walking confidently by 3.

By the time she was 2, she had some words and now, at 4, her vocabulary is huge but her speech can be unclear and she’s mostly not speaking in full sentences yet. But her hearing isn’t great, so hopefully once she gets her hearing aid the clarity will improve.

I think the thing I wish I’d known when she was born was just not to sweat it - there are some aspects of your child’s development that you can’t control, you can only give them as much help as you’re able to get there in the end. The Down’s Syndrome Association should be able to provide you with a list of what your child’s doctors should be checking/monitoring, at what stage and how often - eg, heart, thyroid, whether he has a safe swallow (lots of children with DS are at risk of aspirating fluids). As the PP said, they can also link you in with local support groups - they’re invaluable for finding out what’s available in your area in terms of therapies, etc.

If you’re child does have DS, you’ll find it’s an incredibly steep learning curve - you’re thrown into a new world you probably knew nothing about! But your child will be a source of such joy, it’s worth every minute spent in speech and language groups or watching Peppa Pig in hospital waiting rooms!

All the best, OP, and do pm me if I can help in any way.

Your, not you’re!

Just had the results from the hospital confirmed trisomy 21. I knew that it would be just still doesn't make it any easier.

Ah, lovey. It’s a huge shock, however much you were expecting it.
You’re probably feeling absolutely grim right now, but I promise you, you won’t always feel like this,

I’m so sorry OP. This will be a tough time while you come to terms with it. You will be prepared and will be able to look into what support is available to you. Be kind to yourselves and take things one step at a time

Hi again OP the huge advantage of having a prenatal diagnosis is that you have several months to get your head around things. By the time your amazing baby arrives you will be armed with so much knowledge and you will be able to concentrate on enjoying him and being his mummy. Wishing you all the best!

Glad to see you’ve found FOD - it really is a fantastic group and will be an excellent source of support and info as you get to know your lovely boy. xxx

I hope you’re doing ok OP.