Greater than 1 in 2 chance of Downs Syndrome - Experience - Good Outcome

[Royal23]

After reading a really informative and comforting post on mumsnet after looking all over online for some reassurance I felt compelled to share my husband and I’s experience in the hope it can offer someone else the same. It’s our first pregnancy.

I (32F) am currently 17 weeks pregnant and have just received the all clear after 5 weeks of hell.

I quite naively believed if I made it to 12 weeks then everything would be fine - my main concern being a 1st trimester miscarriage. At the 12 week scan we had an awful experience with an ultrasound technician who seemed unable to form full sentences, make eye contact or give us any information beyond ‘raised NT measurement’ and ‘4mm’. When we asked what that meant he said it could indicate Down’s syndrome but that someone would be in touch as he just did the scans. He sent me off to give blood where a totally disinterested woman told me to expect results in 2 weeks! We left our 12 week scan feeling scared and totally out of our depth. After spending all afternoon down a rabbit hole researching ‘raised NT measurement and downs’ I booked a private NIPT test for the same night. I just couldn’t face waiting two weeks for information.

At the private NIPT test the technician measured the NT at wildly varying amounts. The lowest being 3.3mm and the highest being 4.6mm. He recorded 3.3mm as the official and took my blood to test the foetal DNA.

This was a Thursday and I went home feeling reassured by nothing else other than the fact that these NT measurements seemed to vary quite a bit depending on who’s taking the measurement and the position of the baby etc. as all the measurements were taken on the same day! The NIPT results were due in 5-7 working days.

The following Monday (not two weeks later!) we got a call from the hospital, asking us to come it. We both knew that couldn’t be good. Once we arrived we were taken into a consultation room and presented with our Combined screening results. This was when reality really hit us. Seeing greater than 1 in 2 chance of Down’s syndrome was heartbreaking. Our chance of Edward’s and Pataus was 1 in 5000 so not at increased risk. But to find out that anything greater than 1 in 150 is higher risk and we had greater than 1 in 2 was devastating. We were talked through our options and as we had already paid for the private NIPT and the fact that a ‘lower risk result’ on an NHS NIPT meant you wouldn’t then qualify for the diagnostic testing (CVS or Amniocentesis) made our decision easier and we booked in for CVS two days later (13 weeks pregnant).

The combined screening looks at various factors (Age, ethnicity, diabetic status, smoking status, NT measurement and pregnancy hormones in your blood). I was advised the raised NT score of 4mm (anything above 3.5mm is worrying but below 3mm is ideal) and the fact my free beta hCG hormone was 2.25 MoM (above 2) is what had driven this result.

The CVS was unpleasant and I was devastated to hear that due to how my placenta had grown (down the back, parallel to my spine) they couldn’t get a sample. They booked me in for two weeks time for Amniocentesis which can be performed at 15 weeks onwards. Physically, I was sore for a few days afterwards but mentally I was totally drained. I felt like I was in limbo and trying not to get too attached to my baby while looking and feeling more pregnant by the day. Life went on hold and I didn’t want to make any plans because I suddenly didn’t know what the future looked like.

10 painfully long days after the 12 week scan and private NIPT test (I was now 14 weeks pregnant) we got the NIPT results back - which came back as ‘lower risk’. I tried not to let this give me hope as the NHS guidance says that where you have a very increased risk of Downs (between 1 in 2 and 1 in 10) then the NIPT is less reliable and can produce false negatives. I just didn’t know what to think and spent hours online trying to reassure myself.

The week after I went in for my amniocentesis (15 weeks pregnant) , which was less painful than the CVS and after two attempts they were able to get the sample. I took this opportunity to ask our consultant whether she could see any physical indications of Downs though it was early (ossified nasal bone, femur length, heart and kidney function, shape of the head etc. here is the most informative link I found - https://zayacare.com/blog/can-ultrasound-detect-down-syndrome/) which she confirmed there was no sign. She did however seem surprised when I told her the results of our private NIPT - as if she had expected the result to be higher risk which was worrying. Amnio Results take 3-4 working days for downs, Edward’s and Pataus with a more in depth screening taking a further 7 days. I was also booked in for a foetal cardio scan at great Ormond st. as a raised NT can also be a sign of a cardiac anomaly.

The odds of having a healthy baby felt slim to none with these obstacles to navigate and such bleak odds.

That weekend I spent more time researching combined screening and found the mumsnet post that inspired my own and the OP had linked an online cloud based version for free. https://www.prenatalscreeningcloud.com/ 

After putting my information in, it came back with a 1 in 11 chance of Down’s syndrome - which I admit isn’t great but definitely better than 1 in 2! I was questioning how accurate the combined screening truly is or whether our result was down to human error?

The following Monday (the 4th working day) we got the call. No downs was detected from the amniocentesis. We were clear for Edward’s and Pataus too. On the Wednesday we went off to great ormond st. And had the heart scan - after a tense 15 mins we again were told that everything is as expected but that we would need to come back at 22 weeks (in Jan 2024) to check that everything was developing normally. And finally yesterday - we recieved the final results for the full screening results of the amnio - and that was also clear.

To be perfectly honest, while I feel elated and relieved there is a part of me that questions how we came out so high risk in the combined screening and yet all results have come back clear so far. I almost don’t want to believe it. And I don’t think that fear will leave me until our baby arrives. I just hope I can help someone else going through a similar experience, even if it’s just to feel less alone and to know it may not always be the worst outcome!

positiveaboutdownsyndrome.co.uk/little-orange-book/

@Lulumamabear Sorry I was quite sick yesterday and this morning. I have hyperpremesis which has made this pregnancy all that much harder. Thank you for sharing. Leo sounds absolutely lovely 🥰 you’re very lucky to have him!

Oh lovely that must be so hard, I feel for you - I hope it passes soon for you. If you ever want to get in touch please don't hesitate, am always here. And don't feel you need to justify anything to me - your feelings, your situation and your decision are entirely yours, and I won't ever judge another woman for their choices, I'm just grateful for the chance to show the other side of the coin, as it's rarely seen! Take care of yourself, and be kind to yourself. You'll likely be feeling so many conflicting emotions, don't beat yourself up because it's completely normal and understandable. Xxx

@Lulumamabear Thabk you for your kindness. I really appreciate it. I wanted to ask what type of DS your son has as I know there are 3 types and whether you knew before he was born? Is it even possible to test for specific types of T21 during pregnancy?

Any time lovely. I don't believe you get the full picture until they do the full blood karyotype after birth, we didn't have a complete result until about 15 days after he was born, to be honest it didn't really matter at that point as we knew he had DS. He has Trisomy 21, which is the most common type of Down syndrome, it accounts for about 95% of the population of people with DS. It means that all of his cells have the extra copy of chromosome 21. The other two - mosaicism and translocation - are very rare and account for the last 5% between them. Mosaicism is where only some cells have the extra copy, translocation is where the extra copy "piggybacks" onto another chromosome. Much less is known about them because they are so rare. We were vaguely aware of the three types during pregnancy, but I think to be honest we just went with the likelihood that our baby would have Down syndrome, and figured we'd sort the rest out once he was here! X

@PurpleRayne89 how are you doing lovely? X

@Lulumamabear Hey, thanks for checking in. I’ve been staying busy. We have a consultant appointment Wednesday. I’m not sure what questions to ask. Would could you recommend anything?

@PurpleRayne89 wishing you good luck with the consultant appointment tomorrow. If it was me I'd have a think about what I want to ask and write it down - I often found I thought of things to ask afterwards!! I don't know what I could suggest to ask, as it's very personal to you. Just take a deep breath and a bottle of water! Maybe a pad and pen in case you want to write anything down, I always found I'd forget some of what they told me, as I was trying to take it all in. Lots of luck, you've got this. Let me know how it goes xxx

@Lulumamabear Hey, I found my appointment a waste of time. I saw a doctor who wasn’t equipped instead of a consultant. They popped out to speak with a consultant re next steps and they relayed the consultatant said my 13 week scan (most was normal limited), was sufficient and I don’t need any further scans. I am to make a decision based on those findings. They said there doesn’t appear to be any cardiac defects. I then pointed about the regurgitation which could indicate an issue with the heart and she agreed but said they won’t offer a cardiac scan until my 20 weeks scan. Then followed up with, that bare in mind they resuscitate babies at 23-24 weeks so if I decided to terminate after the 20 weeks scan I should bear that in mind. I feel as thought I am being pushed to have a termination. I called the antenatal midwives after and they said they can book me for a heart scan but they’re not sure when this will be as they’re short staffed and a lot of their clinics are closed as a result. It may be at another hospital but again she couldn’t say. I’m also questioning what a cardiac scan would do for us or tell us which would influence our decision. I’m not sure what we think we will gain from it or any other scans moving forward or meetings. We literally cannot make a décimo between us and it’s really tough. Sorry for venting !!!

@PurpleRayne89 so sorry to hear they are not being very helpful, it’s the last thing you need. I guess the question is what else you would need to make the decision one way or the other. Are you still needing more evidence that the baby has it or is it more about finding out about overall health at this point? Not sure if this is helpful but I think that’s how I would approach it. Also it might have already been mentioned but a lot of people contact ARC to talk it through - I did too when I first got the high risk screen. X

@CB1209 Hello. I think they’re fairly certain the baby is positive for T21. There were soft markers on the scan such as no nasal bone. The high risk NIPT and abnormal CVS. We had a cardiac scan yesterday which didn’t show any issues there. I have a scan 2/1 to check overall. So looking at overall potential health issues. I don’t want to wait until 20 weeks. I cannot see an amniocentesis giving a different result. Even if the baby is physically healthy. We wouldn’t know the degree of intellectual disability which is worrying. I think where I struggle is not being able to see beyond the newborn, toddler and pre school stages. When I think about the teenage and adult stages, that’s where things become more disconcerting.

@PurpleRayne89 it’s so hard, sorry you are going through this. Beyond childhood was exactly what I was concerned too when I was having to think through what I would do. The screening midwives said to me that was a very common concern. Totally understand why you don’t want to wait until 20 weeks. I don’t have much else to offer but am wishing you the best whatever you do x

Wow I remember this awful feeling! My little boy had a limb deformity found at 22 weeks which they told us may indicate down's or another chromosome disorder (even though our risk was extremely low) - queue the multiple scans, amniocentesis, blood tests etc a few weeks later we were completely cleared and it was just an isolated leg deformity - felt like a relief even though we still had to deal with the heartbreak of that.

I continued to worry throughout my pregnancy but he was born 39+5 completely healthy (apart from his leg) ❤️

@CB1209 Its crazy because we keep asking for more scans and what have you but we don’t know why. We can’t decide what difference it would make to our decision. Ahh lots of questions, no guarantees! We’re completely at a loss right now.

@momofonex Thanks. I’m glad it all worked out. I’m sure you felt such relief. It’s a tough situation to be in. Having an actual positive NIPT and CVS doesn’t help tbf. It seems there’s no doubting the diagnosis in our situation which is unfortunate. I’m afraid of not being able to work and becoming a carer over night which wouldn’t be fair on our existing child.

@PurpleRayne89 so sorry, I didn't read the full thread - just the OP initial couple of posts which is what I was replying to. I sympathise with you so so much and can understand whatever route you go down

Hey lovely I'm so sorry for the late reply, have had my eldest off school for a couple of days and trying to get all Christmassy stuff done before they break up today 🤯

Really upset for you that you've not had a good experience with the consultant, and that you feel pressured to terminate. Sadly this is still common practise in some areas. Did you join the Great Expectations FB group? You might find more balanced support in there. ARC in my experience were only interested in guiding me through a termination, and would have been supportive of me had I made that choice, but they didn't seem to have the tools to support me if I wasn't going to choose that path.

I do understand your worries, I think we never stop worrying about our kids, what their future will look like etc to be honest! Right now I'm more scared of what the future holds for my daughter, it's a tough world to grow up in for young girls. I know that we'll have to think about Leo's future too, but I've become far better at living in the now and worrying about the things I can control, rather than the things I can't.

It sounds as though it's positive news that baby's heart is healthy, that's great! And no concerns over gut or bowels? X

It's not crazy at all, you're wanting something to give you an answer, to show you a direction, because it's such a huge decision to make and sadly the weight of that is entirely yours to bear, which sucks! I feel as though you know the answer to your question, it's just the uncertainly and not being able to see into the future to make the right decision for your family.

If you're worried about impacting your other child I'd really recommend having a look at some lived experiences, I found that gave me a whole different perspective to read the stories of people who are actually living with a sibling/child/baby/adult with DS. I felt the medical side of it took over, and the whole thing became very clinical, so reading about real life experiences kind of shook me out of the medical dramas a bit, if you know what I mean. Xx

@Lulumamabear Thanks for your response. I think it’s the fear of not being able to work. I studied for a career for years to do something I enjoy. I’m scared to end up becoming a full time care to my child and having to change the life of our son entirely. Being able to work is very important to me. My partner as well.

Yeah I get that, it's hard to know how your career would be impacted I suppose. Would entirely depend on baby's' health, it's sounding as though you don't have any cardiology concerns which is positive. I guess there are some things you can't predict, which doesn't make things easier for you I know. Xxx

@Lulumamabear Thanks for being understanding. Working part time would be ok but not at all would be awful. You can never tell the degree of intellectual ability also.

Sure, very true, and all people born with DS will have a degree of learning delay, but that shouldn't interfere with work etc any more than a regular baby - it only becomes impactful later on in development. The vast majority of babies/toddlers/children with DS go to nursery, school etc like any other child these days. I don't work full time for sure, but I didn't with my first either - mum life is HARD and I don't feel I want to juggle that with a full time job while my kids are small. I have every intention of taking on more work when they're both older and I have more capacity. Xx

@Lulumamabear, I’m so glad to hear all is going well with Leo and he brings so much joy to your life.

my cousin has Downs Syndrome. She is 46 years old and still in good health. She went to a mainstream school even back in the 1980’s and had her own teaching assistant all through school.

she lives a great life, is involved in Girl guides as a leader and goes for regular outings with a carer. She lives semi-independently in a downstairs apartment at her parents home. She has been on multiple overseas trips with her parents, and they have also had the opportunity to go on overseas trips while she stayed home with her grandmother.

It’s so good to hear the positive stories.

@BBBusterkeys thank you, I agree that often the narrative is very negative. It's difficult to see sometimes! There seems to be a general assumption that all babies with DS will be poorly and disabled, which really isn't the case - unfortunately people will more likely hear the worst case stories than the positive ones. I'm glad you have a positive story to tell, sending love xx

Happy New Year 🥳

@Lulumamabear I have a scan today to check structural abnormalities. We will then made a decision following this. My mental health has been pretty bad for last few days. I hadn’t noticed until this date started to approach. I’ve been unwell lately so it distracted me I guess.

@Lulumamabear Scab today was fine. However, showed a possible fixable heart condition and some extra fluid on the brain. No much was explained about this such as implications and so forth so now we’re confused and wanting a second opinion. We want to continue the pregnancy so badly but it seems the odds keep stacking against us.