High Risk NIPT / Awaiting CVS result - 13+3

[PurpleRayne89]

Partner and I did IVF. Fresh transfer with early blast day 5 which to our delight implanted and we got a positive. 12 week scan showed soft markers for Downs Syndrome which were no nasal bone, tricuspid regurgitation) my NT was 2.5, bloods within normal range. I’m 35. I came out as intermediate risk for DS 1:250. I was then offered a NIPT (Harmon) test which was completed there and then. I received a call 8 days later to say it has returned a high risk result for T21 which is DS. I was asked to come in the following day for a further scan and possible CVS if I consented. My scan at 13+2 showed no nasal bone and a reserve a-wave ductus venosus. No further mention of the tricuspid regurgitation. However, still soft markers were present so I agreed to the CVS. Awful experience but that’s another story. I was told to expect the result early next week. Not feeling hopeful. I’m shattered emotionally and just feel confused, hurt and guilty. I cannot find any stories where there have been soft markers, high risk NIPT result and it’s been a happy ending. This is the end of the road. Please share your stories no matter the outcome 😊

To think the person who performed my initial scan said everything was positively fine but when completed a report to the contrary. If he were honest at the time when asked, I wouldn’t have let anyone know. Now I’m wrestling with being that person to my colleagues, family and friends.

@PurpleRayne89 again I’m so sorry. My t21 pregnancy was a much wanted pregnancy after struggling to conceive. I was 35 as well. I told a couple of close family members and my best friend about the nipt result, nobody else. I told colleagues there was a complication with the pregnancy, I didn’t give them any details and you don’t have to either. I am thinking of you, I know how heartbreaking it is .

@Missmarymack2 Thank you for your kind words. I’m not sure at which point to have the conversation with my manager… did you have TFMR, if so which approach? I was wondering what indications you had for T21 when which led to your diagnosis.

@PurpleRayne89 I had a scan with nipt at 11 weeks and was told everything was normal. I had the nipt test privately because I was 35 . I got a phone call to say there was a 99 percent chance of t21. My world fell apart . I didn’t know what to do, tmfr is not an even an option where I live which made things worse, there was very little support available. I went to have a scan a while later and the scan showed a mmc at 11 weeks. It must have happened just after the nipt scan. I am pretty certain the pregnancy was not viable because of the t21. I didn’t get a chance to get cvs to confirm. The decision about tmfr was taken out of my hands in this case. I was off work for a long time and between the nipt and the scan I was considering all my options.. in those weeks I just told my manager I had complications I didn’t tell the details.

I'm sorry you are going through this OP x

DH and I TTC 4yrs, no fertility issues ever found and finally got pregnant at 38. We lived/worked abroad part of each year and this happened overseas, so possibly slightly different to here (UK). I'd paid for the NIPT at 12weeks and it showed Patau syndrome, T13. More clear cut IMO than T21, because the outcome is 99% fatal either in utero or within days of birth.

Sorry if TMI. They'd booked me for a more detailed scan, which also showed obvious issues- cleft face (not just cleft lip), umbilical hernia, shadows on brain and other things. NT was 6.5mm, so not soft markers. I chose TFMR. The autopsy confirmed this. DH and I then had a blood test to check for karyotyping to check whether it had been a genetic translocation from one of us- it wasn't, Just a random event apparently. Although a later consultant said it was likely due to my old eggs!

If you are in the UK, you should have been entitled to leave for IVF. Was your manager aware you were going through this? I had rounds of IVF in the UK after further losses to the one mentioned above. Happy to answer any questions about anything. Remember that this isn't your fault and you aren't alone OP xxx

O@Missmarymack2 Thanks for sharing. Usually the MC for T21 happens in the first trimester and beginning of second so definitely not uncommon. I just hate having to be that person at work. The one who was pregnant and then she wasn’t.

@JC03745 Thanks for your story. I did get leave for IVF but I had to let my manager know the reason as sometimes I’d have to leave at short notice for bloods and scans. Also, I have hyperpermesis since 6 weeks and had to disclose to my manager as there was no other way to explain the sickness. Following my 12 weeks scan, as the person doing it said it was all well and offered pictures. I then thought I had the all clear to share with others which I did excitidly whilst waiting for my report to be completed. I was then asked to come to a room 2 hours later where he then highlighted the risk concerns. Clearly he noticed them while doing the scan and should have been transparent. I then would not have told anyone. I just feel super cheated by my experience. I’m not sure what decision we will make.

So sorry to hear you are going through this. But remember you don't have a definite diagnosis yet. I have read many stories of pregnancies that turned out to be perfectly healthy despite scans and tests.

I am that person in work though, twice in 9 months. All I can advise is don't worry what others think. I'm sure you will have lots of support should it come to this. Going back afterwards was difficult, people didn't really know what to say, I had to take the lead and just act as normal as I could. I didnt want to talk about it in work anyway. Things were back to normal within a week or so if my return.

Sending strength x

I'm so sorry you went through this. When I had my scan at almost 12 weeks for NIPT, the person didn't say alot other than hmm, yes, hmm etc. I could hear the heartbeat because she put the audio on to record it. In hindsight, I do recall her saying the scan was taking a bit longer than normal as she was just doing a few others measurements. It was my 1st pregnancy, so had no idea anything was different to normal. We decided to wait until the NIPT results came back, which was only a few days. I'd actually had a family gathering the night before my results and was going to tell family- but decided to wait. I can understand in your case why you'd have told people though. I'm sure if you felt comfortable telling them before the formal results then they are family/friends that would support you no matter the outcome?

@Schoolrunmum81 I am sorry to hear of your experiences. It’s not easy. I will try to adapt to work again. I’m just feeling ashamed, I can’t understand why.

I know it’s not over until it’s over but there are too many odds stacked against us. The NIPT is super accurate for T21 and the medical team seem confident the CVS will just confirm the NIPT result. Their exact words.

@JC03745 I understand they don’t want to alarm you during the scan as that may interfere with them completing it accordingly. However, he could have mentioned it to me after he had finished instead of everything looked normal when it actually didn’t. I do believe I’d be supported no matter what I decide. However, I won’t continue to share my journey with them behind this point as it’s too personal.

@PurpleRayne89 going back to work my colleagues who knew I had lost a pregnancy were very kind and supportive. I was actually glad of the support in a way. I would suggest not telling them any details while you decide what to do. I was vague about the details but my gp gave me a cert for pregnancy related sick leave. I was too distraught to work going through it to be honest

@Missmarymack2 Thank you for the advice. I don’t plan to share the details with anyone. It’s hard enough as it is. I’d feel judged either way. What was the pregnancy related certificate? I will be asking my GP. I feel I would benefit from counselling as going from IVF to this I need help making sense of it all. Right now it’s just a cluster of things I don’t understand.

@PurpleRayne89 the gp just wrote pregnancy problems on the cert, where I work pregnancy related sick leave is classed different. I had phoned her and told her about the nipt result and I asked for the cert and that’s what she wrote, there was no way I could have faced going to work I was off for over a month between nipt and getting surgery. I did have some counselling too afterwards which I found beneficial.

Just want to say how sorry I am to read this, you have nothing to be ashamed of. It's a quirk of nature. Give yourself time to heal and go easy on yourself x

I'm truly sorry. I didnt have a NIPT. Scan at 13 weeks showed abnormalities which she was very honest about, following day we had a more detailed scan with a fetal medicine consultant who confirmed an extensive cystic hygroma and other severe abnormalities likely caused by T21. CVS was offered but she was pretty convinced of her diagnosis and gave baby just a 10% chance of survival. We chose not to go through anymore and TFMR the following week at 14 weeks and 1 day. We then had cord cells tested which confirmed T21.

You have nothing to be ashamed of. Any decision made is made out of love. It's never an easy decision. T21 can come with a lot of health issues. Had our baby beat the odds and survived he also had bilateral talipes and a 50% chance of a heart defect. For us we didn't want him to suffer. I've been honest with anyone who has asked and not once been judged. It's easier said than done but don't be too hard on yourself. You are doing what is right for you and your family.

I really feel for you as you have gone through IVF to get here. We have a 10 year old through IVF so I know how hard it is. Just remember to be kind to yourself, one day at a time x

@Missmarymack2 Ok, I will start having some conversations around it all. I definitely need some time away from work right now. My job is pretty intense.

@mrspresents Thank you. It’s a challenging time 😞

@Schoolrunmum81 Thanks for sharing. How did you cope during the time it was all happening? IVF is a gruelling journey. Just for it to come to this. I think with T21 you just don’t know how severe it’ll be so it’s a roll of the dice. That’s another thing I’m grappling with. It’s the guilt! My 3 year old son has been kissing my stomach saying it’s taking too long. I just feel awful!

Just to say I’m so so sorry you’re going through this @PurpleRayne89 - I know we’ve been on a few infertility boards together and was really rooting for you to have a successful round, so I can’t imagine how devastated you and your partner must be. As for work and friends and family - don’t give a thought to it. You handle it how you want/need to - you don’t owe anyone any explanations as to what’s happened. There’s no shame or anything wrong in not carrying on with a pregnancy you don’t feel equipped for. That’s no one’s business but your own.
This is no one’s fault, and I would have told people exactly like you, so don’t blame yourself - it’s just a cruel twist of fate. Take the time you need, grieve for your baby and the future you planned. You will get there (and I really look forward to seeing that post on here in the future). ❤️ Sending you and your partner all the love and strength.

Thanks @HopefulllHolly i feel like I have the worst luck in the galaxy at this point!

Hospital called and confirmed T21. It’s the news I was expecting!

@PurpleRayne89 so sorry. I hope you are minding yourself.

@Missmarymack2 Thank you. Having a nightmare day, someone broke into my car and stole both pairs of prescription glasses so now I can’t even drive anywhere 😓

@PurpleRayne89 oh gosh that is awful 😞

So sorry. I know how awful that phonecall can be, even when you are expecting it.

I had a tfmr for T21 after 2 missed miscarriages, I also felt like I was so unlucky and it was so unfair. My 13 week scan when fine and no markers were picked up, this left me feeling safe sharing the pregnancy. 2 days later I got the call from my midwife to say that my bloods had come back high risk.

I was off work from the phonecall until 2/3 weeks after the surgery. It was horrible going back but everyone was respectful. I told everyone it was pregnancy loss and only told a select few the real reason. It's such a tough situation to navigate.

I was 39 at this point and had been trying for years. In the end we decided to do IVF with a tested embryo. We only managed one good embryo so I am glad we went down this route. I am now nearly 42 and a couple of weeks away from finally (hopefully!) giving birth.

Sending you lots of love and peace whilst you navigate the next few weeks and months.