Abnormalities-Results-Termination

[LifeandMe]

I cannot seem to find answers anywhere, ill cut to the chase.
Im currently pregnant 13 weeks pregnant.

At 6 weeks we went for a privet scan which went well, we then booked another at 10 weeks, again that went well.

2 weeks later we had our official NHS scan at 10 am which we were then told that the baby has some underlying abnormalities

• Fluid around the neck
• Organs seems to be out around the tummy area
• Heart was not quite in the right place
• Potential cleft lip

OK .......

She said her findings are pointing towards Edwards syndrome.
They took a quick blood sample and told us they will book us in with further test that same day at 3pm
We came back and I had further blood works.
We were then called into another scanning room from which the senior doctor explained what the previous one had found, and she will also be checking, she then mentioned that it was high for downs syndrome based on blood work.
she said these thing happen a lot and its to do with the splitting of cells and its very unlikely it would happen again.

She checked and said she can see abnormalities, but she will be calling the consultant to also check.

He came in and checked and said there are abnormalities, we have two options, one is to carry on or terminate. (alot more detailed that this but I’d be typing all day)

We had already made our minds up at this point. they explained if it were any one of the three chromosome abnormalities, downs, Edwards or Patau's then we fall into the 1 percent bracket so its very rare, if its not and it another chromosome abnormality then its even less than 1 percent for it accruing again.

So, based on our decision we also decided to have the CVS (Chorionic villus sampling) to find out exactly. Its known to have a 1 percent chance of causing miscarriages but as our choice was made it made no difference.

That was done and they told us in three days we would get first results and the a few weeks later get a more detailed one.

This part is where im very confused.
The results came back Negative for Edwards, Plateau, and downs syndrome.

This now means the other checks will be for other chromosome abnormalities or genetic factors.
(I have a healthy 8-year-old with no family history)
(My partner has no children, but he also doesn’t have any family history)
We are both 33 (young)

I’m wanting to know if anyone has been in this situation and what did they did or what were the results if they do not mind sharing of course

Could the doctors be wrong?
Should I get a second scan/opinion.

I’m very aware situations like this occur and a large extent of woman miscarry before knowing but I know and its all very confusing.

Sorry you've had such worrying news.
Could you go private and get a panorama test including the micro deletions? It should cost about £600 depending on where you live. I can recommend somewhere if you are midlands based.

I have no experience in your situation but just wanted to say I'm so sorry you are having to go through all this worry and I hope it works out ok.

Anecdotally, I would say get a second opinion. A friend of mine was advised to terminate her pregnancy by the NHS, they said the scans show the baby would be severely disabled. They decided against this advice and had the baby anyway. They now have a healthy 8 month old daughter. There was a small issue with her heart which she required a surgery when she was 3 months old but been a perfectly normal baby aside from this. I know their case is rare but it makes me feel it's worth getting a second opinion from elsewhere

I would also go with a second opinion x

I've been in this situation.
We had a high nuchal measurement. 5.3mm. No other issues seen. We had the nipt which came back as low risk for the main 3. Eventually had the amnio which showed our baby had a rare deletion of chromosome 2 and we had a termination for medical reasons.
Have a healthy 4yo and am 32 weeks pregnant with (hopefully) no issues showing so far.

Im so sorry you're in this position. Are you still awaiting the full cvs results? That may show the issue if so.
Our consultant said its rare for issues to show up and be nothing. Normally its a heart problem or chromosomal problem.

Sorry you’re going through this OP.
I’m not sure a second opinion is a good idea - usually it’s good to keep having follow ups with the same team because they know you and how your baby has been looking in scan, and in general the services for this are pretty good within the NHS. That’s assuming you’re under fetal medicine already, which it sounds like. If you don’t have confidence in the doctors you have seen then a second opinion may help you - but it might also be worth waiting a little bit before you do that. Of course no scan can ever predict the exact effect on baby - but usually the doctors will do their best to explain to you what the likely outcomes would be.

There is no need to consider paying privately for a panorama test (as a PP suggested) - the CVS will give a much more detailed and reliable result than panorama could, and the results will be back in the same time frame.

I’m not sure if you meant your decision was already made to terminate based on the scan findings - you can still choose to do that regardless of the CVS result, if that’s what’s right for you. It’s not clear from your post exactly how severe the physical problems are - but I assume that’s been discussed with you as well.

It seems that you are confused enough about things that it would be maybe worth waiting a little bit though - typically the full CVS result takes about 2 weeks to come back. Have you got a follow up appointment with MFM? Ideally you could wait for the result, have another scan at that time (15-16 weeks) where a lot more detail will be seen, and then another discussion with the team about what it all means for your baby? You’ll still have the same options then. In particular you can usually see a lot more detail about the heart by 16 weeks which could be helpful for your decision.

I know you’ll be feeling like you just want the answers straight away, and you want everything to be clear - but sometimes it just takes time for things to become clear. It can feel like the longest wait in the world.

I’m not in the UK but hopefully someone else can help with recommendations for support networks - I have seen ARC recommended on these threads before.

You also should have the option of calling the Fetal medicine service again for more discussion if you feel that will help prior to your full results coming through.

Best of luck with your decisions, the right one will come.

Thank you @Treaclepie19 for your message,

Congratulations on your pregnancy

I received the first half of the results that tests for Edwards, downs and Patues, all came back negative Tuesday just gone.
im now waiting for the other half which is from the CVS procedure and should tell us exactly what he/she had but will take about 3 weeks they said.

i have my termination booked for Sunday.
as it was not only confirmed verbally that if baby was born he or she would be born with severe disabilities and was recommended but our choice at the end.

getting the results will put us at ease as to what was exactly not quite right and although they said the chance of this happening again are very slim, its just a case of as its happened before you then have it on your mind.
im glad all is well with you, its nice to near positive news.

I'm sorry to hear this 😔 we've been in a similar position, where the scan showed physical indicators and based on the CVS, our daughter was diagnosed with Turners Syndrome and we chose to terminate for medical reasons at 16 weeks.

Ours was a bit unique as most Turners babies naturally miscarry before this point. We were told that it was a 0.04% chance of this happening and that there is no increased risk of recurrence.

As pp have said, the full array normally takes around 2 weeks. With all of the physical indicators you've listed, it sounds unlikely that it's just a mistake, whereas a high NT on its own can sometimes just be a fluke.

I would wholly recommend contacting ARC as they specialise in this and can walk you through the TFMR process and aftercare.

Not quite in your situation - but they test for the common chromosome issues before hand. So they will have 'grown' the chromosome 13, 18 and 21 first (for Patau, Edward and Downs) from the blood sample. That's the results you got back.

For the full test, they will be growing the rest of the chromosomes. Looks like there will be an extra material/ommision on one of these instead, hence it's taking more time.

@TenThousandSpoons0

Thank you very much for your message, im definitely confused and something else words cant seem to fill.

i had the cvs and they should be here in a few weeks and like you said will give a more detailed explanation.

As for what they said baby had, its was very vague in it self, they said baby heart wasn't quite in the right place but as i'm 12 weeks baby heart is so small its difficult to see and then there is a growth on stomach so looked like the bowls were on the outside. baby was quite small as well and fluid around the neck.
im booked for a termination already and ill have no choice but to wait

@otterbaby

I'm sorry to hear this 😔 we've been in a similar position, where the scan showed physical indicators and based on the CVS, our daughter was diagnosed with Turners Syndrome and we chose to terminate for medical reasons at 16 weeks.

Ours was a bit unique as most Turners babies naturally miscarry before this point. We were told that it was a 0.04% chance of this happening and that there is no increased risk of recurrence.

As pp have said, the full array normally takes around 2 weeks. With all of the physical indicators you've listed, it sounds unlikely that it's just a mistake, whereas a high NT on its own can sometimes just be a fluke.

I would wholly recommend contacting ARC as they specialise in this and can walk you through the TFMR process and aftercare.

Thank you for your message @otterbaby like you said about the miscarry, i really thought i would miscarry and with the cvs as well but now ill have to wait to find out exactly.

its comforting knowing im not on my own and hearing of other stories.
i do trust the doctors and consultants we saw, like @TenThousandSpoons0 said, the nhs are good. i guess it was curiosity speaking as well with slight hope.

ive never heard of turners but the lady said there are over 200 checks being carried out so its a waiting game now. thanks again for your message :)

You do have a choice though - if you feel that the physical abnormalities are enough for a decision and you are comfortable with that, then you don’t need to wait for the full results. It sounds like perhaps that was the choice you had made already?

Really it’s just you and your partner need to be at peace with whatever decision you make. If you’re confident in your decision based on what you’ve seen already, then that is the right thing for you. But if it takes a few more weeks and some more information before you’re at peace with your decision, then that’s okay too. No one else can decide for you.
Often where I am if a couple is certain of wanting a termination, then genetic testing is done after delivery rather than by CVS. Just to illustrate there’s no absolute requirement for a genetic diagnosis in order to make your decision.

I should also add that if your decision is to continue, that’s also ok! You shouldn’t feel pressured into anything either way.