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1-5 chance of Down's syndrome(12 Posts)
, this is my 1st post. I received a phone call from midwife last Monday informing us that due to blood test and Nt scan and my age 36 we have a 1-5 chance our baby will be affected by Down's syndrome the news came as a shock the scan showed no abnormalities except the high NT, my Hcg 4.02 papp-A 0.58 and NT 3.4, we opted for the harmony test on Tuesday then changed our minds and had the Cvs on Thursday, I was also told that my thyroid levels were out, I suffer from hypothyroidism normally and my bloods sit at around 2 which is good but was told they were way out at 10.4, then told this wouldn't affected my Hcg levels, such a whirlwind of information our world seems to have just stopped with the waiting, we will continue with the pregnancy regardless as we tried for this baby for a long time we will love it just the same, but it is so worrying not knowing what is coming next, we were told the cvs results would be in Friday but were then told the sample wasn't big enough and the sample need to be left to grow over the weekend and we should know by 4.30pm Monday, I thought I would post 1. to offer support to others going through the same and 2 to ask if anyone has also went through something similar I am 14 weeks today, thanks for reading 😊
Hi Suzanne, sorry you've had worrying news, and how frustrating that you have to wait a bit longer for the results of your CVS. I had a CVS in my first pregnancy and it did reveal a chromosomal anomaly, but then my nt score was closer to 7 so this wasn't really surprising. You might get more of a response on the antenatal tests and choices board - many of the posters there have been in this situation, and have experience of different outcomes and different decisions. I hope you get reassuring news on Monday - a 1 in 5 risk means that there's an 80% chance that everything is fine.
thank you for your reply 😊 I feel for you having gone this this situation and tests, that's true if I look at the stats in a more positive light, thanks for pointing me in the right direction I'm new to posting, I think the waiting makes everything feel bit overwhelming,
Sorry to hear you are having a worrying time. I recently went through something similar. It's horrible having to wait for the test result. If you want to chat things through there are lots of really kind and experienced people on the "ante natal tests" board, I really recommend posting there if you did want to talk things through further. However most likely you'll get to all clear tomorrow and you can put this to the back of your mind .
Good luck and best wishes from one worried mum to another.
Sorry you're having to go through all this.
I had something similar in my 3rd pregnancy (I have a daughter then had an ectopic) NT level was 5.3, went for CVS and NT had risen to 7.9 after just 2 days.
Except with us all conditions including downs, turners, Edwards, patau's and 90+ others were all negative. We carried on with the pregnancy, we had a few cardiac scans as it can also indicate heart conditions and all those were fine too. At 20w anomaly scan we found out our son had multiple congenital abnormalities and wouldn't survive the pregnancy let alone birth. We had an amino to test for a rare condition called smyth lemli optz syndrome but that was also negative. He was born at 21 weeks and even after a pm we still have no diagnosis. I've since had a mmc but I am not nearly 15 weeks pregnant and all seems to be going well. We have a 1:4 risk chance or reoccurrence or 1:2 if it only affects boys.
On the other hand I have a friend that had a raised NT and abnormal bloods and opted for the CVS and all was negative and they have since had a beautiful baby girl, completely healthy.
I waited 3-4 days for the results for downs, Edwards etc but 3 weeks for the other conditions. X
Hi OP. I am also new to mumsnet due to a remarkably similar story.
I had a call on Thursday morning to say we also had 1 in 5 of Downs, due to my quad test results (as I was too far at 16 weeks to see from the scan).
Thankfully they got us in for an amnio that same afternoon so now waiting to hear our results- Tuesday/ Wednesday.
I've always thought, even before I was pregnant, that I couldn't cope with a Downs baby.
I am 32 and my partner is 44, and for both of us, this is our first child. We have wanted children for so long, our world has been turned upside down. I cried the whole scan and amnio, and most of that day tbh.
It's awful because we had just started telling family and friends. And now we're facing the prospect of ending the pregnancy.
I don't know about you but I have absolutely loved being pregnant. I am now starting to show and I adore my bump. I am absolutely heartbroken at the thought of ending the pregnancy and I'm now struggling with whether I should continue to bond with my bump.
A horribly stressful and sad time.
Jo3y84, sorry you feel so scared. firstly, remember as a PP has mentioned, 1 in 5 means you've got an 80% chance of not having a baby with DS. Secondly, have you read the information on the Down's Syndrome Association website? It may help with your fears about raising a child with Down's Syndrome and is a brilliant source of info and support. Look at Facebook pages like 'Don't be Sorry' and 'Down's Syndrome: raising awareness and shifting attitudes' for a glimpse into the life of parents with children with Down's. The medical professionals on the other hand can be a bit crap about giving information about DS to parents and parents to be. When I was told that my daughter had the condition, 5 hours after she was born, the consultant gave us a long list of potential health problems. As it happens, she's got no heart or bowel problems, her hearing and sight seem OK, she is keeping up with her NCT peers really well (she's so close to crawling right now!) and basically is the most wonderful, giggly, smily nearly one year old you could wish to meet. It's a hell of a lot to take in, but whatever you decide, make sure your choice is an informed choice, not just based on scare mongering. Good luck, whatever you choose to do.
Did you get your results back yet Suzanne7934? Xx
curliegirlie you daughter is gorgeous
Thinking of you OP, hope you're getting lots of love and support whatever the results are
curliegirlie you're so right, I'm sorry. I may feel totally different if I'm faced with that decision.
Should get my results today or tomorrow. So scared. Haven't gone to work since we were told we were high risk.
Disappointed to say my results had too many of my cells in, so another agonising 2 week wait. I think I might look into some acupuncture or something. I watched my father pass away from cancer in my 20s, and he was nursed at home. But this, this has been by far the most stressful thing I've ever endured.
Not sure if this is entirely what you were after but I have a child with Downs Syndrome and she's the best thing since sliced bread
My results gave a 1 in 3 chance and u had a harmony test which confirmed DS. Having the time to (mentally) prepare was very helpful for me, it gave me a chance to stop feeling scared and start looking forwards to her again. She is the most joyous baby and even the grumpy aunt who asked why I wasn't having an abortion is in her thrall.
She does have a heart condition but we found out about it at 16 weeks and again had plenty of time to prepare. It affects her less than you can imagine and is never the first thing you think of or notice about her.
Feel free to PM
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