3.7 NT And 1:5 downs from screening

[Han1234]

Hi

just wondered if I could get some advice or if anyone had had a similar result.

in my 12 week scan I got a measurement of 3.7mm NT, which I was told is just slightly over the cut off point of what’s classed as under normal range (3.5mm), was referred to a consultant scan the next day who found no further abnormalities at this point and she said everything looked “reassuring”.

had the blood screening results back from the midwife yesterday which were 1:117 for Edward’s and Pataeus so 0.8% chance and 1 in 5 for Downs so a 20% chance.

i was quite surprised by the 1 in 5 I didn’t expect it.

Ive checked on my badger notes and it says the Papp-a level from my blood test is 1.11, I’ve been non stop googling which I know is bad but it seems like a low result of the Papp-a level is linked to the chromosome problems so anything under 0.5?

so I am scared why the results have come back so high risk… I am 34 so not super old but I wonder if age plus the measure has put the risk higher up…

i’m also not eligible for the next blood test as the pregnancy was originally a twin one, so it’s not reliable otherwise I’d of had that.

i don’t feel right about the amnio as i know there is a risk (although extremely small) and my partner is really not keen on me getting it, it also wouldn’t change the outcome for us if the baby does have DS we would still continue the pregnancy.

Not really sure what I am asking tbh but i just think I am struggling with the unknown… just wanted to see if anyone had had similar results… I think if maybe at the 16 week scan it showed some other health concerns (which is what I’m mostly worried about that if the baby has anything wrong that’s going to massively impact its life) I would think about the amnio more so we could be more prepped for what is coming the babies way?

I didn’t think second baby would be this stressful!!

Are you in the UK ? Is NIPPT not available ?

It is available but as it was a twin pregnancy they won’t do it, something to do with DNA from the twin that didn’t survive effecting the result I think??

This was me a not long ago. The longest 8 weeks of my life getting all these tests done.

The NT was 3.8mm. Bloods came back 1 in 5 for DS and 1 in 83 for patau and Edward's.

I have amino at 16 weeks. All clear.

Had my 20 week scan yesterday and all looks fine.

This is a lot more common than you probably think.....all the ones I've read about tend to be boys too!

Ahh yes that makes sense good luck.

I am to be honest reading a lot of the same stuff online too!

I just really am unsure about the amnio I don’t know why, my partner doesn’t want me to get it all but they’ve arranged for someone to be there with the consultant for my 16 week scan if I decide I do want to get it so just got a few more weeks to make a decision.

the anxiety of the unknown I just know will eat me up!!

oh boys really??? I wonder why that is!

It might just be coincidence the boy thing but I haven't seen many of these cases that are girls, especially on here!

The specialist told me it's a 1 in 200 chance of miscarriage but they actually think it's not even as many as that, they just aren't allowed to say so. That's what she told me anyway.

I had a slightly similar story. 3.3mm NT, so just under the rescan limit on the NHS and 1 in less than 5 chance of Downs Syndrome. I was 36, so in the older mum camp.

My Papp-A level was close to normal but I had 3x the level of hCG, which was pushing my risk factor up. Do you know what your hCG level is? I think it’s the gap between hCG and Papp-a that they’re really looking at.

Apparently, by itself a high hCG level doesn’t mean much, but it does skew the screening results. I’ve also seen it associated with girls interestingly, opposite to previous poster - and I ended up having a girl, who is 10 months now, and your average healthy baby.

I had the NIPPT which convinced me not to have the amnio - it must be v harder for you to decide without that option. Might be worth talking to ARC who have a freephone number for antenatal results and will likely have better info about the amnio or CVS options. I spoke to them and it was a real lifeline while I was waiting for results and struggling.

Good luck 🌸

I have a similar story as had 1:5 chance of Down syndrome and couldn't have NIPT due to starting as a twin pregnancy.

I had the amino as needed to know for sure and it came back clear but the wait was horrendous. The amnio was fine and I would do the same thing if faced with that situation again.

Oh and to all the posters saying about it likely to be a boy... my 9 week old DD is currently snoring away on my chest 🤣

Hmm yeah I read about the HCG being high. It I can only see the PAPP-A on my results I should maybe ask the midwife for more details! I did have a really good and informative phonecall with ARC after I posted this by was really helpful, glad I got in touch with them.

im glad everything turned out well for you! :)

Aw I’m glad everything turned out well, I do have the amnio booked in but they said I can just decide on the day if I want to do it or not so I will see how the scan goes!

I’ve had two pregnancies and aminos both times, they were both fine. I followed the hospital advice to rest up etc for two weeks after, the wait was worse than the amnio.

Are you sure about the NIPT/Twin thing? Going back over 8 years now but: my second pregnancy was originally twins, seen on scan at circa 8 weeks after bleeding (both viable at that point). By 9 weeks one twin had passed away and at my 12 week scan only one baby was viable. Anyway my scan/bloods/NT etc have odds of 1:3 for DS and I went on to have a NITP to confirm. Like you I wasn't willing to risk amnio (tiny risk but still) given we knew we would continue the pregnancy. NIPT was positive and I have a gorgeous 8 year old daughter with Down's Syndrome. Not sure if that is helpful to you or not, sorry. Best wishes anyway and happy to talk if you like.

Hi, thank you for your reply.

yeah they were adamant the NIPT wasn’t possible so I wonder if maybe the rules about it have changed over the years?

I know I’ve read so many positive stories about the amnio but there’s just something that’s making me really not want to do it, especially since the result regardless wouldn’t change anything for us and we would continue the pregnancy like you’ve said… the only reason for me would be just so I know for sure either way? And I suppose so I can stop speculating but it just seems like it’s not enough reason to do it unless something clearly shows on the scan that is going to impact on the babies health in a big way that we would be better off being prepped for if that makes sense?

@Han1234 I'm sorry to hear that the rules have changed. Well, I'm sure they changed for good reason but it's a shame anyway. 8 (nearly 9) years ago when I had mine the NIPT was very new and there was some question mark over whether I could get it done on the NHS so we did consider what we would do if not (we couldn't afford private) and I just didn't want the amnio but it's really a personal choice. Having DS confirmed really was a blessing though for my mental health rather than waiting.

However, once a diagnosis is confirmed you do get a lot of extra scans - could you discuss with your midwife, or consultant even better if you have one - if you could qualify for some extra scans anyway to check all is well? Then knowing there is a chance the baby has DS will give you a chance to get your head around it; and as long as there are no major underlying health issues spotted on the scans then you can deal with everything else after the birth? Gentle hugs anyway, I remember the agony of waiting.

Yeah I think a clear answer either way would be helpful, so I can really understand why many people do get the amnio, especially when it’s their only option maybe.

I am already booked in for an extra scan at 16 weeks anyway so i will see how that one goes and i am just really hoping all looks well in terms of heart etc. and no glaringly obvious health issues. I’ve also got the detailed heart scan at 20 weeks as well so will try take it each scan at a time.

I have a similar story too...

13 week scan - NT levels were 3.8mm. Everything else looked fine. Got referred to John Radcliffe

14 weeks - Results came back 1:18 chance of DS. Edwards and Pateus 1:2600. Planned to do a CVS but couldn't due to the placenta positioning.

15 weeks - Had the amniocentesis. Heart scan looked good. Nasal bone confirmed. Baby growing nicely.

4 days later results came back from the Amnio as all clear. This is when we were told we are having a girl.

16 weeks - Additional results came back clear.

20 weeks - Heart scan and baby measuring well. Get sign off from John Radcliffe hospital and back with my local hospital.

Currently 22 weeks pregnant and feeling positive. Little girl is kicking away in there

Aw that sounds really positive, does feel very similar to me, all fetal echo at Leeds Hospital was good, 20 week anatomy scan all looking good heart again no issues, no other signs of concern.

only thing I didn’t get was the amniocentesis but I think as I mentioned before we were happy to not have it whilst everything was looking good on the scans, still a bit of uncertainty but I feel much more positive now.

was told I could have the amnio again further towards the end of we were more worried again but everything is looking good on the scans we’ve had.

Hi. Sorry if this is a delayed response but it may help newbies who come on to check for updates. 33 years old. We’ve experienced similar: my results were:

hCG : 6.31 MoM (yes, insanely high - this made me insanely sick and bed bound for 2 months)
papp-a 0.32 (very low - high risk of preeclampsia, preterm birth, late miscarriage etc. )
NT 1.0mm (perfect)

this indicated 1 in 5 chance of Down syndrome. NIPT was positive. CVS positive. We TFMR.

the CVS was totally fine - dental procedures are worse than what the CVS was for me. A tiny scratch like a blood test then one second of pressure that’s it.

@Han1234 - how did you get on?

Hi, all was fine after all the worries and tests, baby boy was born without any health issues as far as we are aware, nothing chromosone related x