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1-5 chance of Down's syndrome

(16 Posts)
Suzanne7934 Sun 07-Aug-16 11:15:46

Hello Ladies

, 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 😊

offbeatgirl Sun 07-Aug-16 16:59:56

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. flowers

Suzanne7934 Sun 07-Aug-16 18:30:12

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,

DifficultSituation999 Sun 07-Aug-16 20:32:37

Hi op,

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 smile.

Good luck and best wishes from one worried mum to another.

Mybugslife Tue 09-Aug-16 15:44:16

Hi OP.
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

Jo3y84 Sat 13-Aug-16 10:50:29

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.

curliegirlie Sun 14-Aug-16 18:11:58

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.

Jo3y84 Mon 15-Aug-16 22:26:52

Did you get your results back yet Suzanne7934? Xx

CanWeNot Mon 15-Aug-16 22:29:30

curliegirlie you daughter is gorgeous smile

Thinking of you OP, hope you're getting lots of love and support whatever the results are flowers

Jo3y84 Tue 16-Aug-16 08:25:17

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.

Jo3y84 Tue 16-Aug-16 19:40:40

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.

Nightfall1983 Tue 16-Aug-16 19:47:02

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 grin

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 smile

Amymotherof3 Tue 14-Nov-17 19:00:57

owns syndrome

Long shot. I have two beautiful healthy girls. And I mc inbetween them. I'm now 12 weeks 2 days and the hospital have phoned to say I'm 1 in 5 of downs syndrome. I still fairly shocked and having moments of tears and great sadness and then I have to pulled together for the rest of my family. I have been referred to a bigger hospital with this Thurs or Friday and results Monday for the CVS test. Which I'm pretty scared about. I've had two c sections so I should man up for this. Has anyone had any experience in this. I have been on my phone for nearly 24 hours researching to find any hope. Does anyone have any advice

Many thanks

Rebeccaslicker Tue 14-Nov-17 19:10:15

1 in 5 is still an 80% chance of no DS. It must be awfully stressful and the waiting is terrible. A good friend of mine was 1 in 3 and had the test; she had good news and her son did not have it.

The NT is only one marker. Try and look after yourself on the run up to the test - fingers crossed for you.

Chelbell9 Sat 25-Nov-17 11:19:10

Hi Everyone,

This is my first post here too and I'm inthe same situation. This has been probably the worst week of my life.

Yesterday I was given a 1 in 5 chance too. Our nuchal was at 5.4mm, which to me sounds really bad. The Papp A & hcg were high too, but not extremely bad so the midwife said it was the 5.4mm from the scan that was the strong indicator.

I was told that 1 in 5 was the highest they could measure, so I'm not sure how others have said theirs was 1 in 3? Does anyone know?

When they scanned me again the consultant said that there was fluid all around the baby now, so worse. Only 4 days later. Did this happen to anyone else? Because of this I'm at high risk of miscarriage.

We had the cvs on Friday & waiting for results. The wait is the worst. I just can't stop crying. This would be our first & we had a m/c earlier this year so all around been a shitty year. I have a thyroid (hyper/Graves) that is not under control with meds, so this also puts baby at high risk of m/c. Though they said the thyroid thing isn't related to this as the baby is only 12+4 weeks.

Has anyone else had a nuchal that was so high? The 5.4mm is what's terrifying me the most.

Thanks xx

HopefullySoonToBeDad Fri 16-Feb-18 16:32:46

All, after what has probably been the most stressful week of my life - partly because I have had a good life, and partly because my wife and I have had a long and complicated journey to parenthood (with missed miscarriage and failed ivf)- we have just received some good news re our risk of chromosomal conditions and I wanted to share to give others some hope.

We were given a 1:5 chance for down syndrome 8 days ago following the combined test. We had our scan at 13 weeks 4days (late because of ‘new processes’ apparently). Our nuchal translunceny measurement was 3.2mm, our bhcg 2.48 and Papp-a 0.42. My wife is 32.

I found the forums very helpful with lots of positive stories of high risk with good outcomes. However, I was disconcerted that most of these seemed to have either a high nuchal fold measurement or obscure bloods. No ‘positive’ stories seemed to include both, which is partly why I emphasise our readings (above).

Anyway we had the nipt today - it will be free on the nhs for high risk mums in November 2018 - and went with the IONA test. This test has more than 99% accuracy rate, whereas the combined test is now rated as about 85% with 5% false positive.

Anyway, our results were received this afternoon and not only have we moved from high to low risk, but from a 1:5 chance to <1:1:000,000.

Obviously we were in the 4:5 but this change is beyond reassuring, it is downright startling! I wanted to share this story, and say to others thanks for sharing; don’t give up hope; and a special shout out to the wonderful and brave mothers and fathers out there with delightful Down syndrome children.

Best wishes to all on your pregnancy/parenting journeys.


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