1:34 chance of Downs(56 Posts)
Had 12 (though was 13+1) week scan on Monday and got an NT of 3.6. They rushed bloods through and yesterday I was told I have a 1:34 chance of Downs. I'm 36.
Hospital trying to get me a quick appointment for a CVS, but thanks to the bank holiday, it's looking as though I will have to wait until I'm 15 weeks for an amnio as I will have to travel to London.
I need to find out fast, as DH and I have decided we would terminate if the test comes back positive. DS1 has ASD and we have had hideous struggles getting him anything. As parents we've had no support, and the though of caring for a severely disabled child for the rest of our lives is too much.
Just wondering if anyone has had similar odds and also what the tests are like? I hear varying reports about it hurting etc.
Ah hope so sorry you went through that. Best wishes for your new pregnancy
Just an update since I created this thread. Today I got the results from the baby's tissue, it was a boy. My son. They confirmed he had trisomy 13 - patau syndrome.
I had a mmc and D&C in April.
I am now 7 weeks pregnant and worried however there is always hope and never give up. hope my experience helps anyone who is in need of advice.
Take care x
Thank you, daluze, that gives me a lot of hope. Part of my brain keeps trying to convince me that there must be SOME reason for the abnormal NT, I keep preparing for the worst but hoping for the best.
I'll keep you all posted when I know more.
Our experience is a bit similar to yours. On 12 weeks scan the sonographer detected two abnormalities related to blood flow, and although NT and bloods were normal, they gave us a whopping risk of 1:7 for Down syndrome. Fast forwarding, CVS and karyotype were clear. We had additional heart scans, however everything resolved by 20 weeks scan. Now my not so little anymore cheeky boy is 16 months and he is perfectly healthy (except for all the bugs he brings from nursery!). It is a very stressful time to wait for results and scans, and my thoughts are with you. When I waited for a heart scan, I was thinking, whatever it was, it was likely to be fixable. Fingers crossed you don't need even that!
Yes def don't go on your own! I couldn't have done it without my husband and I thought of our wedding day during uncomfortable moments and it helped .
Treat yourself kindly the next week or so , try not to google too much . Glad we have all these facilities I've been absolutely blown away by everyone's professionalism and level of care I felt in very capable hands every step of the way . It's difficult but you will be able to make an informed decision soon . Really hope it is all good news though . Suck a shame these things eh . I was so lucky to be able to walk away with a so far healthy baby and felt blessed too .
Will have all my fingers crossed for you x
Don't apologise Poshsausage, I'm a person who likes to know all possible outcomes so i can be mentally prepared if the worst happens. Thank you for sharing your story. I'm glad it has a happy outcome for one of your twins.
I don't think we will be getting full chromosomal results from the CVS as they said the sample they got was too small, but they didn't seem to think it was a big problem and haven't asked for a repeat or anything.
The only indicator they found at the 12 week scan or the scan at the CVS was the increased NT.
Did some googling yesterday and it seems at though it could be an indicator for a wide variety of heart problems, from very serious to very minor, or indeed none at all, so it's just wait and see.
Unfortunately DH can't get the day off work next week so will have to move the scan to the week after. I really don't want to do it without him!
In all honestly yes , I posted my experience before up thread I think . Just wait and see what doctor says you will get a really detailed scan and they will take their time ..we had hydrops first ,sizing worries , then at the detailed specialist scan they said multiple problems including heart beat too fast and likely cleft palate all indicating chromosomal problems we decided to take their medical advice and terminate as we had a twin to consider and could end up losing both . They took a sample of cvs when they did the procedure and called me couple days later to say not downs or Eduards etc so that confused us and we then felt guilty . But two weeks later we got the choromosal results saying there was a deletion so it confirmed everything for us . We have since have genetic testing to see if we are carriers (18q deletion) and I'm case other twin was at risk but he seems fine and healthy and we are clear
So not straightforward , it's a difficult shocking emotional roller coaster of a time that's for sure .
Hope it all comes out with good results for you
Sorry if my news wasn't helpful but these things happen I guess now and again . Hope all is well for you keep is posted x
Just had a call and have been booked in for heart scan next week. Have been so relieved about CVS results but now I'm worried again. Has anyone had heart problems detected on a scan after having increased NT?
What are they likely to be? How serious?
Hope I'd suggest starting a thread if you haven't already so you get the support you need at this difficult time
So sorry :-(
I'm going to the hospital now to see what options they give me in terms of removing my baby. Scary thought but I have to do it. I'm so happy for you and please keep me updated on when your baby comes xxx
So sad for you Hope, been thinking about you all this morning xxx
Didn't need an amnio today. Baby had no heartbeat. It's gone to a better place, thanks for all your support and I pray all your pregnancies go well and you all have healthy babies! Much love xxx
Thank you everyone. I'll be here watching and hoping for everyone else. Going to ring my local hospital today to book the heart scan. Hoping that even if it points to a problem it will at least be a fixable one.
So happy your results came back clear! Now enjoy the end of your pregnancy and do let us know when your baby boy comes! x
Glad you got your results and all good. I posted something similar a few years back and had quite a few unhelpful and hurtful comments which made me stay away a bit. It's been nice to see you have a lot of support with this (apart from one!). It a worrying time waiting and hard to process any thoughts etc. Glad all is ok for you.
That's great news.
Wishing you lots of good luck for the heart scans
Hello everyone, just wanted to update and tell you we had the preliminary results back on the CVS and thankfully baby does not have downs or any of the other trisomies. It's also a boy, which will be DS3 for us!
Can't believe it, was very prepared for the worst. Still looking at heart scans in a couple of weeks and don't have the full karotype yet, but feel as though we have our baby back.
Thank you so much for all the love and support. It's been beyond helpful.
Hope you are ok
I take issue with the poster who said I wouldn't class Down Syndrome as a severe disability though have you spent any time with children who have Down syndrome?
Things aren't that black and white.
Some Downs syndrome people I work with have a low level of disability others have more complex needs.
Hopefully you will have the result you want but I wish you well what ever the outcome. You have a lot on your hands.
I'm glad it wasn't as. bad as you expected. Hope you great the all clear from the test results. I will be going through exactly what you are experiencing next Tuesday when I have my amnio. then the wait for the results. All we can now do is pray for the best. Whatever decision we make will be in the best interest of our babies. Take care x
Had the CVS yesterday morning. All went well. I have an anterior placenta so it made the procedure easier. It felt very strange but didn't hurt. Oddly enough it reminded me of a smear test.
Everyone at the Norfolk and Norwich were lovely and we were seen as soon as we arrived. Consultant did a scan and couldn't see any further evidence of chromosome problems, but didn't measure the NT again and said that at 14+2 it would be too early to see other markers.
I'd had a bit of spotting earlier that morning so he offered a chance for me to come back, but as this is not unusual for me in pregnancy I declined. I really couldn't have waited any more.
Afterwards I felt fine. Very minor cramping and a bit tired, but they showed baby's heartbeat on scan. Poor DH had a bit of a funny turn during the procedure, he's not slept or eaten well over the past week and I think it all got a bit much. He's not normally squeamish at all!
They will phone me in 2-3 working days with results. If all fine, next step is heart scans, so not out of the woods yet. Just taking it one day at a time and not thinking about it too much.
Thanks for all the support and handholding.
Hi just wanted to post and say I had a 1 in 4 chance of my baby having a genetic condition and the CVS results come back fine.
I no how worrying the wait is but as someone else said your chances are very small.
I also would have terminated had my results been bad, I completely understand.
Really hope your results are good xxx
I had a pregnancy with a 50/50 risk, with no option but to terminate if the dodgy gene was present as the pregnancy would not go to term. Like you I was originally scheduled for CVS, but when I turned up the pregnancy was further advanced than I had thought, so decided to come back for an amnio instead.
The amnio itself is not painful but I found it quite stressful, once you are pregnant I think you instinctively feel panicky at anything going near your baby (especially when you see the needle going towards it on the screen). I went on my own, which in hindsight was not a terribly good idea (fortunately a kind nurse who had just come off duty sat me down with a sugary cup of tea for 15 mins afterward).
The thing I found hardest was that I found it very difficult to bond with the "bump" until I got the test results back (after various problems with testing - not a standard test - at about 24 weeks). I think that plus the stress of worrying probably contributed to my mild PND, just something to be conscious / aware of. For that reason I'd probably opt for whichever test will give the speediest results.
I hope it goes well for you.
Hope, that's awful. My heart goes out to you. There are so many kind people here who know so much. Hope you get support and strength.
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