One in 31 chance of Down’s syndrome

[HopefulRose]

Hi there. I just wanted to share my results and speak to other women/ parents who are or who have been in a similar position before.

I’ve just had the results back from my 12 week prenatal screening report last week. The NT was 3.3mm, HCG 1.49 mom and Papp-A 0.67. I’m 31, a non-smoker and weigh 85kg. The sonographer struggled to get the NT measurement because baby kept moving so we were in and out three times, she clearly was concerned about it but for there eventually and it came in at an average of 3.3mm which is at the closer end of higher.

Midwife called to say I had a one in 31 chance of our baby having Down’s syndrome. The baby is our first and much-wanted. I was convinced I was infertile and unable to have children but fell pregnant quickly (and by surprise) after losing weight earlier this year. It felt like it was all too good to true.

I have been crying all day since finding out and can’t concentrate on work. Husband and I went down to see the midwife this afternoon and agreed to do the NIPT. We’ll have to wait until next week to get the results. We wanted to re-do the scan and blood test but apparently that wasn’t possible.

I feel so many different emotions right now. We will love the baby regardless but the world is cruel and I know life will be much harder for a child with disabilities than one who is traditionally healthy. Sorry this is a bit of a ramble, I just needed somewhere to vent. Feeling a bit lost and sad. Any advice or previous experiences would be great to hear.

I'll echo what @mummy20 said, i had similar results to you, then a cvs (which was the worse thing I've ever had done to me), which came back with a 46xx result. Weirdly relieved, but it still messes with my head 13 years later. She is awesome though. Make sure you take any support offered. Good luck

@Mummy2O thank you. Yes I won’t be forgetting it in a hurry, it has made me realise how naive I was before to assume everything would automatically be fine. Even though we have a low result, I won’t be taking anything for granted and will definitely be more prepared for the 20 week scan

@PurpleEchoLamp thank you! Sorry it’s still fresh in your mind 13 years later but lovely that you have a wonderful daughter to show for it.

Firstly, thinking of you. It's a horrible horrible thing to be told. I am 23 weeks pregnant and got a call after my 12 week scan and blood tests to say I had a 1 in 45 chance of baby having Down's syndrome. I was offered the NIPT but after long discussion with my OH, we decided to go for invasive testing (CVS). We was concerned that if the NIPT screening results came back as high risk then we would have waited 2 weeks with not finding out if the baby had DS. CVS was ok, a little uncomfortable. It was positive for us and 4 days later got brilliant news that the baby didn't have DS. It was a stressful worrying time and I know exactly what you are going through. Just remember just because you are high risk it doesn't mean the baby will have DS. If the baby does end up having DS then you can cross that bridge when you come to it. Wishing you all the best

@candlelightsatdawn Good luck with your tests. I'm now pregnant again, so far so good xx

@HopefulRose We are coping fine now. But at the time I felt so many emotions, I didn't leave the house for a month and I couldn't speak to anyone, I had no idea how to explain that I was pregnant and then it was gone. I now shorten it to "I lost it." But I feel wrong in saying that because, it was my choice to loose it, but I didn't want too. I've never been through anything so traumatic in my life, but it has made me stronger.

I'm now pregnant again, so far so good -
I don't think I would have ever got through it if we didn't try again xxx

@HopefulRose sorry to ask & jump on your comment, do you mind me asking how many days your NIPT results took to come back? Sonographer couldn’t take my NT at 12 week scan as baby wouldn’t stop moving, had my quad screening blood taken at 16 week midwife last week. Got the call today to go back as 5% likelihood and chose NIPT over going straight for the invasive testing & now I’m worried I’m not going to hear anything for 2 weeks thanks in advance & really glad your results came back as low xx

@Laurenm29 Hello! We did the NIPT on Monday last week and results came back by Friday. I was told to expect them to be as late as middle of this week but fortunately they came through quicker. Wishing you well and hope you hear back soon xx

Just updating in case anyone trawls these comments looking for insight (hope ect) like I have been doing this past week.

So 1/4 downs, 1/110 for patues based on some really high blood work, NT of 3,8 and maternal age of 31 and I'm 13 weeks 5 days. Had a lot of losses previously.

So I had my CVS yesterday, I'm not going to lie and say it was fun but after a false start, the procedure was quick and done. Did have some cramping. They did fetal echo on babies heart and that looks ok for the moment. They did in depth scan and everything looks normal (never seen a scan so detailed before). Obviously they have said that these types of babies can look normal on the scan so not to jump the gun as it were.

So now the wait for the CVS results. They said hopefully by the end of the week we will have some news and CVS was done on Monday.

I'm scared but ultimately hopefully as we found out it's a boy (their best guess but definitely looks like it)

@Champersandchocolate congratulations and I am sending smooth pregnancy vibes your way.

Hi @HopefulRose, really glad to see that your results came back fine! I had bloods done for NIPT yesterday as my combined screening came back 1 in 20 risk :( Finding it hard to think about anything else right now!

@Laurenm29 Sorry to hear you are also going through the awful wait! Hope our results come back very soon!!

@candlelightsatdawn Good luck for your results too, CVS must have been a scary experience!

@tootiredtothinkofaname got everything crossed for us both - I’ve been really positive seeing so many people who had lower odds get their NIPT back and it’s gone from 1:5 to over 1:10,000 xx

@Champersandchocolate 💕 will be thinking of you and hope your pregnancy goes smoothly this time. Feel free to message me if you ever need to talk xo

@Laurenm29 Hi Lauren, thinking of you at this time the waiting is the worst I think I lost my mind last week. NIPT came back in four days - had it one the Monday then results came back on Friday. Worth asking where the results are sent to. Try to push it out of your mind and focus on things that cheer you up. Although I have to say, I couldn’t do that at all. In the end I learnt as much as I could about these screening tests and found reading up about DS really helpful and speaking to ARC. By the end of the week my conclusion was (as still is) health is the only priority of the baby. If the baby is healthy with DS it would be a positive outcome for us. After reading about some of the tragic things that can get thrown up as a result of these scans and checks for some women, it has been a heartbreaking and sobering experience.

@HopefulRose thank you for such lovely words. Just trying to keep busy at work, bf thinks I’m ridiculous for going in (he’s not handling it very well) but sitting around at home thinking about it isn’t going to help the situation. I’ve been doing a lot of reading about the screening and have read some reassuring negatives about the initial quad screening if that makes sense came across ARC late last night so going to have a read through today. Take care xx

@Laurenm29 I don't have much advice but in same boat. I like you have been working and DH doesn't quite get how I can focus on anything else.To be frank I have to keep busy or will lose my mind, I suspect your similar ? Arc is amazing really Brillant.I hope your results come speedily. This limbo land isn't something I would wish on anyone

I worry my past experience of DS is colouring my view. I grew up with a little boy who had sever DS and ultimately didn't live past 7th birthday ( I was in same class as his big brother) and it completely destroyed the family and the brother. Not the DS but the loss of him. I'm not sure I would survive burying another child in the ground or would the current children in my care.

I'm split between waiting to see what the results are and then waiting for babies heart to be big enough for them to review before making any choices. I'm so very torn. It doesn't help I have a DD and DSD who both are on the spectrum and would both take it very badly. Esp my DSD who is older and at very difficult age.

I hope you all get the results we all hope for and speedily.

Update from my CVS - first element came back for the three big ones - we are all clear !

Thank god. Obviously we have the rest of the chromosomal issues to be screen for but I literally burst into tears when told.

Crossing me fingers for all of you still waiting xxx

@candlelightsatdawn oh darling I am so pleased for you! Definitely a massive relief for you both! xx

@candlelightsatdawn Fantastic news, congratulations!!!

Had my NIPT on Monday, been waiting anxiously all week, been at brothers wedding today & we joked that I would get the call with the results while we were in church…came out & checked my phone & had a voicemail to call the midwife. Thank god got the news we wanted to know. Thinking of you all who are still waiting for your results xx

Hi ladies,

I know this thread was last updated over 6 months ago but I’d love to chat with any of you ladies as I now find myself in a very similar situation.

I went for my 12 week scan on Monday and received a high (and unexpected) NT results of 5.2mm that combined with my blood test results has given us a 1:30 chance of having a baby with DS. I’m still trying to process all this information and already know the wait between appointments is going to kill me. I’ve got an advanced screening next week and I think a CVS will be our best option of knowing for certain. Your positive stories have definitely helped me, I’d love to chat to anyone who’s going or gone through a similar situation and how you dealt with it best. Thank you x

@Alexa02 i am sorry that you are going through this. It is so hard to process and can be so upsetting. I found the waiting really hard.

Flipping the ratio on it's head always felt better to me. For you, there is only a 3.3% chance of there being an issue. The odds are really in your favour, so please try to focus on that.

On the flip side, there are some really good Downs support groups about for parents with a diagnosis. It could be worth having a look at them and getting an idea of people's experiences with babies with Downs. It may surprise you how positive may people's experiences are.

The Arc website can also offer some really good support if you need it. The helpline is really good.

Thank you so much for your encouraging words. I couldn’t bear just sitting there and not doing anything so I went for a private NIPT test last night. The thought of the invasive procedure was playing on my mind so I thought we’d at least see if these results came back high or low also.

You are right, the waiting is the worst part. Though the way you’ve flipped the odds round does make me feel more hopeful. Did you have a similar story? I hope you had the results you wanted x

@Alexa02 When will your results be due? I will be thinking of you.

I had a 1 in 22 chance with my little boy. This was down to my age at the time (38), a higher end of normal NT score and my low Papp-A reading. We also had a 1 in 9 risk of Edwards' and Patau's syndromes.

I had both a NIPT and an amniocentesis in the end. I booked for a CVS first, but they couldn't do it because of where my placenta was. So, I had the NIPT whilst I waited for the amnio. All came back clear thankfully. He's now nearly 11 months old.

It was a horribly stressful time and it stays with you for a little while. Please, please find someone to talk through how you are feeling. It will do you the world of good regardless of the outcome of your tests.

Please also don't be scared of a downs diagnosis if it does go that way. There is lots of support out there and happy people come in all shapes and sizes. For me I just wanted to be prepared with whatever the outcome was. That said, ultimately only you can decide what is best for your family under the circumstances. There is no judgement here either way.

Thank you so much. So the results should have arrived at the lab this morning they then take about 5 working days to come back so we’re looking at next Friday, the wait is a killer.

Oh wow you were so brave. I’m considering doing the amnio depending on what my NIPT results come back saying. Did your NIPT results come back low or high risk? Did you choose to have the amnio for peace of mind? So happy to hear your little one is now 11 months old.

Thank you so much, it has definitely been a sobering experience and one I naively hadn’t considered. This feeling will certainly stay with me for a while.

Thank you again for your support and kindness xx