Having CVS test and very worried

[Zigzag19]

Hi everyone,

Just had the results back from my 12 week NHS screening and it's said baby has a 1 in 10 risk of Downs syndrome. This has come as quite a shock to say the least. I'll be 33 at term, and having done a bit of research into my results (bHCG 1.88 MoM, NT 2.9mm, Papp-A 0.72) I don't think they are that extreme, so I'm confused where the very high risk has come from. I've read with Downs you often have elevated bHCG but lower Papp-A, but my Papp-A result was much lower with my DS1 who is all healthy (and he had a v low risk result for the 12 week screening). I've also read some papers which seem to say female fetuses can lead to these higher results...surely if that was the case they should account for that?

We've decided to have a CVS test which I'm very anxious if I'm making the right decision about given the risks it holds (I'll be 13w on the day), hoping I can get some clearer answers about the above figures before the test but everyone at the hospital I've asked so far has been pretty useless just saying they've calculated it as high risk.

Wondering if anyone has similar experiences they are willing to share and also the outcomes? I'm trying to stay positive but also can't help but worry. Sorry for the long message but would be very grateful for any responses, xx

[Sussexmidwife]

@Zigzag19 have you got a copy of the actual result? They haven’t got a mistake in your age have they? I am happy to have look if you want to PM me - screening & fetal medicine are my “specialist subjects”’ !
Your initial thoughts make sense, but it may just be that all 3 features being slightly off lead to this mathematical calculation
Have you considered NIPT?

[Simz01]

Hi @Zigzag19

I posted regarding similar findings. I am pregnant with fraternal twins and one twin had NT of also 2.9mm and no nasal bone visible. The consultant said there was a risk of Downs or other abnormality based on this.

I did the CVS a couple weeks ago - it came back clear and I have since heard that 2.9mm is not really that high. The CVS itself was fine for me, but i did have a consultant i trusted and had done the procedure many times before. It was quick (and i had to do twice for twins), more uncomfortable than painful.

My bloods were not conclusive (Harmony) due to not enough fetal DNA, hence went to CVS straight away
Happy to answer any questions

[Zigzag19]

@Sussexmidwife yes I have a copy and my age is correct on the form. Happy to share any other info, what else would you look at?
Yes we have thought about NIPT but decided it might not put us at ease and so would likely go for the CVS anyway.
@Simz01 thanks for sharing your experience, yes the sonographer told me anything under 3.5mm was considered low so I wasn't too worried about that measurement until now. I haven't been able to find out anything about the person performing the cvs yet as I've been referred to a different hospital but hoping I can quiz them before the procedure. Feel like I'm having to trust them without knowing anything about their experience at the moment!

[Zigzag19]

Bumping thread in case anyone else has recent experience they can share.
I'm booked in for the cvs first thing tomorrow and the nerves are really starting to build up! X

[LeonieMacaroni]

I recently had a cvs for twins so double the risk and I was absolutely terrified! The actual procedure was over fairly quickly I just had to have it twice which was unpleasant as I knew what was coming second time around. Personally I found it did hurt (everyone had told me it would just be uncomfortable) but I had 2 within about an inch of each other and it was so close to my belly button I think it was a bit of an unfortunate place. I also felt very bruised and sore for a good few days afterwards and had 2 visible bruises for several weeks.

I got my results back the next day with the all clear which was a massive relief! Hope it goes as well for you tomorrow

[Simz01]

@Zigzag19 good luck tomorrow. The good thing is that it is over quick. I think the thought and anticipation is worse - am glad it is first thing for you. I didn’t look either , which helped me a lot. They should do a scan to hear the heartbeats after. Wish you lots of luck xx

[HarrietM87]

Good luck OP. I would guess that your results are based on your bloods rather than your NT measurement (which is within the normal range). Average is 1 so you’ve got lower than average Papp A and higher than average (quite a bit higher) hcg. I’m not a dr but I understand it’s that combo that increases the risk. With your son if Papp A was low but hcg normal it wouldn’t have the same risk profile.

Wishing you the best of luck - odds still very much in your favour.

[Robs20]

I had a 1:30 risk of downs with one of my twins. I am 30. The high risk factor was caused by a NT of 3.8mm. I was booked in for a cvs but after a detailed anatomy scan the consultant advised nipt and if that was high risk, an amnio (I would have been too late in pregnancy for a cvs). Nipt came back as low risk so I also had cardiac scans as the high NT can also be a sign of a cardiac defect.
Can you have a nipt first (as that poses no risk to you/ baby)?

[Robs20]

PS I was convinced something would be wrong - I have healthy 19 week old twins. Remember the chances are 9/10 that things are ok.

[Zigzag19]

Thanks everyone, your responses have been helpful and have helped calm me a bit. I'm crossing my fingers and just look forward to this agonising wait being over.
@Simz01 I won't be looking either I don't think!
Glad everyone here had a positive outcome, x

[lightlypoached]

Hello. I don't have recent experience but my baby DS with a high probability is now a strapping 6 foot 17 year old. CVS was much easier than I expected. It's scary but it can work out well.

[Zigzag19]

Hi everyone, just back home after having the procedure this morning. It was a little more uncomfortable than I'd prepared myself for but also I think it was worse not being able to have DH in there with me due to covid. Anyway we're hopeful for a positive outcome and should here the results on Monday, x

[Simz01]

@Zigzag19 how are you doing ? X

[Zigzag19]

@Simz01 thanks so much for asking, we got our results back yesterday afternoon and they were all clear, it's such a relief. It's still not fully sunk in yet though and I think it's going to take a while for the anxiety to go away, x

[Simz01]

@Zigzag19 I am so glad ! It must be such a relief. I totally understand , I was the same after my CVS - relieved but still anxious, but getting more relaxed. I’m just waiting for the micro array now x

[Zigzag19]

@Simz01 is that the full karyotype testing? If so we weren't offered that, I think because my screening results were only high risk for downs and the PCR test covers that..but maybe it just varies by trust, I'm not sure. I would have liked it just for added reasurrance of anything else that might be causing the raised blood serum levels. Hope you dont have to wait much longer for your results, do you expect them soon? x

[Simz01]

@Zigzag19 I think ours was very similar from scan due to high NT and nasal bone, so was high risk for downs or other trisomy. They didn’t actually offer the micro array / karyotyping from cvs (ie the next set of results) but I am actually going to pay for it.

They will do a heart scan as that could be the other reason. Both are due in a couple weeks, so keeping my fingers crossed x

They should be able to preserve the sample though (just incase) anything comes up on 20 week scan so it’s available for other testing (again just incase) so we don’t have to go through such testing again. Just FYI and maybe worth asking them to keep xx

[Zigzag19]

@Simz01 oh I hadn't thought of that as an option, we just asked about whether we would have it and they were quite blunt saying it wasn't needed, so we thought that was that! Good to know its an option, depending how long they preserve the sample of course.
Hope the heart scan goes well and all your results come back quickly and are good news, x

[Simz01]

I am sure you won’t need it @Zigzag19, so wouldn’t worry. We were also told it’s unlikely. I think this scan and the panic from that just made me very anxious lately so thought we may as well pay and do these eps with twins. Thank you so much , hopefully everything done in a couple weeks. Hope you are more relaxed now - we need to start enjoying our pregnancies xx

[Zigzag19]

@Simz01 that's totally understandable, especially with the added worry that expecting twins must bring. Thanks yes trying to be! Booked a private scan earlier for just under 3 wks time so DH can finally see baby, which gives me something to look forward to and breaks up the wait for the anomaly scan. X

[Rainbowmamma23]

Hello all ♥️ bumping this in a desperate hope someone might respond or have any info. Have had our screen results back today with a high risk of Down's syndrome (1:49, I think she said 2.5 MoM but I'm not 100%... it was a blur). I think I'm going to go straight for the cvs instead of harmony test

[Simz01]

Hello, I did have the cvs test after worrying 12 week scan. I just want to say the probability of anything going wrong is very low especially if you have the right doctor doing the test (mine had 0% miscarriage history for cvs and amnios).

It was very straightforward for me (and I had twins, so technically was more complex procedure). Happy to answer any questions

[Rainbowmamma23]

@Simz01 thank you, that's really reassuring! Do you mind me asking what your hcg levels were before the test?♥️

Did you have any cramping/bleeding afterwards?xx

[Simz01]

@Rainbowmamma23 im sorry, I don’t know what the hcg levels were, but did the test pretty early on.

i actually didn’t have any cramping or bleeding, cramping just for a few hours later but nothing very noticeable. My doctor was very quick with it all, it was a smooth process for me, and it gave me the results I needed to go forward.

i hope you are doing ok x

[Simz01]

@Rainbowmamma23 are there any other factors , how was your scan ? X