Bad first trimester screening results and very worried

[grace11]

I'm 12 wks pregnant and had my first trimester screening yesterday and I'm really struggling with the results. I've been told I have a 1:17 chance of trisomy 13. The issue wasn't with the nuchal translucency (which is 1mm), but a high heart rate (180 bpm) and no nasal bone obviously present. This combined with my age (36) and bloods (hcg - 0.5 mom & papp - 0.6 mom) has made me very high risk. I've chosen to go with the harmony test as I have a hematoma and can't risk an invasive procedure and have no idea how to get through these next days waiting. Has anyone else had similar results - any positives endings? Any advice on how to get through the next days (I'm off work as too tearful)? The way the hospital handled the situation didn't help - total panic when they couldn't find the nasal bone and basically kept saying how sorry they were as if it was all over.

[minipie]

ok, deep breath and hand hold. 1 in 17 means there is 94% chance your baby does not have trisomy 13.

I had 1:42 so a little lower but still high. I had a CVS (no harmony back then) and yes the wait was pretty horrible. I was all clear in the end. There will be plenty of women who had a 1:17 result and got the all clear (in fact 94% of them )

that does sound like bad handling by the hospital - it does sound like an overreaction. Perhaps it was someone very junior who hadn't seen it before, or perhaps they were panicking because they realised they'd told you in a bad way... dunno. By the way many hospitals don't even check for the nasal bone, as it's not considered a very reliable marker - just in case that reassures you at all.

very best of luck. when do you expect the results?

[grace11]

Thanks so much for your reassurance minipie, it's just horrible - had nightmares about it last night. This pregnancy has been an uphill struggle with a massive bleed at 7 weeks & another at 9 weeks from a hematoma, so this was the last thing I was suspecting at the scan - thought it would all be about the hematoma (which they totally ignored). I do suspect the sonographer was junior as she had to get two other colleagues to help her try and find the nasal bone - she was obsessed with it! Made me walk around for 10 minutes to change baby's position & did an internal scan with lots of heavy prodding - the atmosphere in the scan room just became manic. I get the results some time next week - they will call me randomly which isn't ideal.

[minipie]

Mmm yes random call isn't ideal. But I guess it's the only way if you want the results as soon as they are ready. Fingers crossed for you - the stats are on your side.

[clairemiss79]

Hi grace. I just wanted to let you know that I missed my 12 week scan but was given a risk factor of greater than 1:5 on my bloods alone. I asked the screening midwife if she would do a scan - I was 13 weeks - to see if there is a nasal bone present and she told me that our health authority doesn't look for nasal bone because sometimes it can be difficult to find and is by no means a definite indicator. She said they don't use it as a measure because often it can be present but sonographers can't see it.
So I opted for a NIFTY which took 2 weeks and came back with a 1 in 13 million chance. I totally sympathise with your situation because I was also in a complete emotional state. However you must remember that 1 in 17 actually means 1 in 17 and your NT is really positive. There is a large chance your baby will be fine.
I found the nhs so negative about the results. They didn't reassure me at all but going to the private clinic for the test was a godsend.
Fingers massively crossed for you xx

[LBNM19]

Hi i had a 1 in 4 chance of a genetic condition and got good results. Wishing you the very best xx the chances are you baby hasn't got trisomy 13 the waiting is awful x

[grace11]

Thank you Claire and LBNM19 - it's so good to hear you faced a similar situation and had a happy ending. I decided to get a private nuchal done at the Fetal Medicine Centre last night as I'd read such good things on here about it and sadly my risk has increased to 1:11 because they found a reverse wave/blood flow from the liver. It's almost getting ridiculous! But at least the Dr was very nice about it all and reassured me... In a mad panic I tried to book a CVS today but have since calmed down and am going to wait for the Harmony which should come back by Monday - booked in for CVS on Thursday anyway just in case. How I long to be one of those mums-to-be who breezes out of the scan room without a clue about all this chaos and stress!

[minipie]

I had that too grace - I also went to the FMC for a second opinion and they found the reverse venous whatever it is (forget the name). 1:11 is still over 90% chance you will be fine. Hope the Harmony comes back clear for you.

[grace11]

Thanks minipie, that's really good news - just when things feel bad enough they add a new marker I've never even heard of! Even before the scan my background risk was high - 1:150 or something. Just wonder what you have to do/be to get out of these low numbers? Does anyone know how important weight is in these calculations? I'm underweight - according to them - and just wondering if that's adding to the cocktail of bad things. I actually lied yesterday and said I was heavier than I am so I imagine my results would have been even worse if I'd knocked a few lbs off.

[minipie]

I've no idea about weight sorry. AFAIK the results are mostly based on your age (older=higher), blood tests (IIRC the "ideal" is a result of 1 for hCg and Papp-A, I had much lower on both, more like 0.4 I think) and the nuchal fold measurement at the scan. There may be some other things that go into the mix like nasal bone and reverse venous thingy but many hospitals don't even look at these.

It's mostly completely unrelated to you or anything you could have done. Many women get totally different results with each pregnancy. The blood tests results can even vary day to day.

Try not to drive yourself mad (easier said than done I know). There is nothing more you can do at this stage except wait. Can you try to distract yourself with something that will occupy your brain?

[grace11]

Yes, true - my blood results came out better yesterday at 0.8 for Papp-A as opposed to 0.4 before. I'm at work today so I guess I should get on with stuff here! I'm taking Monday off though when the results come through. Thanks for your support x

[daluze]

Fingers crossed for you. I had reverse flow something markers - two of them, but can't even remember what they were called, and with everything else being perfect, they alone increased risk to 1:7! However, my boy (now 17 months) is absolutely healthy. I had CVS which excluded chromosomal abnormalities, and extra heart scans - but all blood flow things resolved by 20 weeks. Really wish you get good news on Monday!

[grace11]

Thanks daluze - must have been an absolute nightmare for you at the time but such a happy ending!

[grace11]

Heard from hospital today and Harmony test came back very low risk. I'm over the moon but I can't help wondering after all that stress and the markers etc. why they aren't bothered at all now - no extra scans offered or anything. They think the CVS is unnecessary but the high risk was for trisomy 13 and the detection rate on Harmony is not 99%. I am really really happy, don't get me wrong, but just after that complete nightmare you can't help but hold on to some of the worry.

[daluze]

So happy for you! Worries never really end... until the baby is born, but then the new worries start! But I hope you can relax a bit now and enjoy the rest of your pregnancy.

[Tranquilitybaby]

I'm glad your results are good! I can imagine that you still feel up in the air air, from extreme to worry to pretty much all ok, must be v emotional x

[grace11]

Thank you daluze and Tranquilitybaby - yes, it's so hard to just flip to being relaxed. The scan markers still bug me - I'll try and give myself a rest from worrying for a bit though! x

[challis1987]

Hi guys may not be totalky relevant but me n partner had a 1-103 risk of downs but after more intense scan and.discovering nasal bridge bone wasnrt visible and now rocker foot/feet could be.trisomy 13 or 18, as you can imagine news was quite hard.to take in, someone mentioned a harmony test what is it as my partner will not have the invasive test done with the risk of misscariage we was looking at booking a 3d scan at the fetal medicene center to look at the feet etc for ourselves

[challis1987]

We are now 14 weeks any.advice or personal experiences appreciated