Amniocentesis - t21 positive result - heartbreak

[Lsut03]

I've recently just had 2 weeks of hell, following my 12 week scan and combined screening (14 weeks at scan) after much struggle to get the baby in a good position, after laughing and joking about how stubborn he/she is they informed me at the end that my baby had a raised nuchal fluid measurement of 4mm. I was ushered into a room alone to wait a screening nurse/midwife to explain all the possibilities and reasoning for this. I was a wreck. The staff in the screening team at this particular hospital are a credit to them and have been exceptionally helpful throughout this awful time. They told me I'd need to have my bloods taken to confirm whether I was high/low risk. I was in shock but I'm 26 years old surely everything would be fine.

6 days later I had the call to confirm I had a 1 in 40 chance of my baby having T21 down syndrome. Which roughly meant around a 2.4% chance. Me and my partner discussed this and swiftly opted for the amniocentesis to confirm, the wait time for the NIPT and how I am as a person I needed a confirmed diagnosis. So I could hopefully start to enjoy my pregnancy again or atleast worry less.

We were referred to another hopsital with a fetal medicine unit, where a consultant carried out an indepth scan and the procedure. I personally found it very uncomfortable unsure if its due to a previous c-section but my belly was so sore afterwards. They took more bloods and we were sent away, advised we'd receive the results within 3 working days.

Which brought us to yesterday 16th November, working day number 3. Never had I been so anxious, waiting waiting waiting for the call to tell me everything was fine, how could I possibly be in the 2%?! Private number called at 4:15 and confirmed they had found an extra chromosome and it was 99% sure my baby has t21, they also advised the leg growth was behind from the rest of the baby and the heart doesn't look to be developing as it should. They can refer me for a fetal echo if I wish, I broke down on the phone and all I wanted to do was have the call be over I didn't want to hear anymore. How could this be happening to me, to us, my baby. I left work and rang my partner we sobbed for hours and hours and went over it in our heads, I've barely slept I just can't seem to switch off.

We're going back to the hopsital today to speak with the screening team in person about our options, can't believe I'm saying this but we feel for our family and the baby that a termination is what's best. I'm already 16 weeks and my heart is breaking every second, I feel so pregnant but know my baby isn't okay. I keep trying to find a reason why this has happened to us but there's no reason and absolutely nothing I can do.

If anyone wants to know I will post more about what happens next after we've seen the team at our local hospital. I have so many questions, that I couldn't muster on that phonecall last night. I feel broken, lost and just needed to write it all down.

I've tried to look for similar situations as mine, someone my age or with a nuchal translucency that was of similar size or a percentage of only 2.4% who still had a positive results for downs. I can't find anything, maybe people don't want to share these situations and I understand. But I wish I'd been able to read something like this as well as all the amazing happy good news stories. What I so wish mine was. :(

Thank you for reading

I'm so sorry you are having to deal with this, OP. Pregnancy should be a happy time of anticipation, and it is so cruel when those hopes are destroyed.
You need time and support to come to terms with all this, so you can make the right decision for you and your existing child(ren).
Down syndrome is very often accompanied by serious heart or gut abnormalities, and is not purely a learning disability. It does sound as though there are heart problems with your fetus.
Nobody would judge you for deciding it is better not to proceed. Condemning a baby to major open heart surgery and a lifetime of learning disability, ill health, and a shorter life expectancy, with increased risks of both early Alzheimer's and leukaemia, plus increased susceptibility to respiratory infection and a six times greater risk of dying of Covid, as opposed to a termination, is an awful position to be in.
Only you can make that decision, but may I send you a hand hold (and a hug) while you are considering your options.

What a shock that has been for you.
I can only comment on the amniocentesis. I had one thirty years ago after a high result in bloods for Spina Bifida. I was 22 weeks and found the days after the amino quite painful. It took about 3 or 4 days to settle down and I was careful not to left anything heavy for a couple of weeks. It sounds like what you are feeling physically. I had to wait three weeks for the result. It was agonising.

I didn’t feel happy until she was born. She was fine apart from a small dimple at the base of her spine which her brother and I have. My sister has scoliosis which increased the chances. I had already decided to go ahead with the pregnancy because I was 25 weeks by the time we got the results but wanted to prepare the family and myself. This was criticised by a nurse.
I can’t advise you as so much has moved on medically since then but it might be worth contacting the Down’s Syndrome Association for advise and they may have some counselling available to you. There may be someone with a similar situation that is able to talk to you. Otherwise I think asking for some counselling through the hospital as it will have been difficult to take in everything initially.

I will keep you in my prayers.

I’ve no words of advice, I’m so, so sorry .

Thank you for your kind words. Me and my partner went back to the hospital yesterday and made the difficult decision to move forward with terminating the pregnancy. I had a medical abortion when I was young girl for personal reasons and this was highly traumatic due to a severe allergic reaction and hemmorhaged resulting in a surgical. It is one of my worst memories, so based on this I opted for a surgical. The screening midwife advised that my hopsital doesn't carry them out after 14 weeks and that I would need to contact BPAS.

They rang me back today advising that they only have an appointment for in 3 weeks time at a hospital 4 hours away. I feel lost, I can't even drive myself to the appointment or back due to the nature nor can I have my partner with me. I can't ask anyone to do the 8 hour trip each way to take me.

I feel lost, I've rang back my screening midwife from my local hospital hysterical. The thought of being another 3 weeks pregnant is just too much to deal with. My screening midwife is speaking with a consultant to see if there is alternative medicines that could be used for a medical. I feel like I've been literally left with no other choice, both options petrify me.

I'm scared for my baby, what will another 3 weeks mean for it. I'm scared for myself mentally waiting or going through one of my worst memories as a teenager all over again as an adult. Only this time with a pregnancy I wanted so much, we all wanted so much to be okay.

I don't expect anyone to say anything, I just find it helps being able to write down what's happening when I don't feel ready to speak to anyone who knows me personally right now.

I hope and pray an alternative option comes up soon, I can't take much more of this.

I can't imagine how hard this is for you.
Use this thread as your sounding board, I'm sure there will always be people to reply.

sending love.

I have no experience of this situation, OP but I just wanted to send my best wishes. It's an awful situation for you to be in, I hope the hospital manage to find a solution that doesn't mean waiting 3 weeks before you go ahead

This is terrible. You shouldn’t be in this horrendous situation. Are there no private hospitals that could help you any earlier? I def don’t think you should be having a medical termination under these circumstances. I’m so sorry this is happening to you

I'm so sorry OP

I know someone who had to TFMR and they had to go via BPAS in the end as well as NHS wasn't offering surgical at 16 weeks due to covid. They also had to travel a long way to have it done

Is there no way your partner drive you the 4 hours each way?

I had a surgical TFMR at 17 weeks for a chromosome issue that would mean the baby would die either during pregnancy or soon after. I also was referred to BPAS and had my surgery alone in London.

If you wish to PM me please do and I’ll try to guide you as best I can xx

Oh OP what a horrible shock for you. I really do feel for you.

I have been in a couple of different situations that mean I can empathise a little with you. Firstly my child was born with T21 unexpectedly. I was 29 and the nuchal scan had come back low risk. I did not deal with this well and my baby was subsequently placed for adoption. This has obviously had a profound impact on my and their lives.

Then a later baby had a nuchal fold of 6mm and by this time I was older and combined with my age the risk of t21 was less than 2:1. I had the testing and amazingly it was clear. I then had a ton of other scans and tests and echocardiogram etc as enlarged nuchal can also indicate heart problems. Everything was clear. That child is now at school and all is well.

None of this any help to you. Just wanted to say I kind of understand (although not the same I know) and I would have made the same decision if I had been in your position

Just an update, I ended up going for the medical at my local hospital due to the wait time for the surgical. My local hospital were extremely careful with me and considerate baring in mind my previous allergic reaction and treaded very cautiously due to a previous section.

They gave me mifepristone on Tuesday this week at around lunch time and asked me to return on Wednesday evening for the start of the second tablet misoprostol. They started me off with just 50mg every 4 hours x 5. This did nothing, next day 100mg every 4 hours x 5, I had some awful cramping like pains that lasted a few hours requested pain relief. Fell asleep and nothing had progressed.

I woke up so tired and fed up, been apart from my dearest son since Tuesday morning. I missed him so much. A consultant reviewed my case and decided to up me to 200mg every 3 hours instead (still half the recommended dose) after the third dose i was quickly shot into an intense excruciating active labour. Which lasted 6.5 hours with gas and air, my baby girl was born sleeping at half past 1 today.

She is perfect, it's not for everyone and I thought it wouldn't be for me but the time i got to spend just looking at her this morning I feel has really helped me personally.

I won't lie to you, the labour was awful I nearly blacked out from the pain (17 weeks and 3 day baby) second trimester medical abortion. I had to be taken into surgery this morning to remove retained placenta under GA.

I'm exhausted, going through the waves of emotions but so thankful in the end I got to meet my baby and say goodbye. I just wanted to put an honest record of what I've been through. Going through, I'm physically on the mend but I can imagine mentally only just beginning to.

Thanks for the kind words from previous commenters, really appreciated and I'm very thankful for what I do have ❤

@Lsut03 i hope you are doing ok. Thank you for posting this. I’m in the same position now and it’s been very helpful to read

Hey, I'm glad it's helped in someway. Sorry you are going through it too. All I can say is it does get easier with time. Hang in there