Combined test high risk Down syndrome

[Lala84]

Hello ladies,

This is my first time posting on Mumsnet but I am hoping you might be able to offer some advice / experience as I am tearing my hair out with worry and am not in a good place right now. I'm not sure if I have posted this in the right place either so please let me know if you think it should be somewhere else.

I am 32 years old and after nearly 2 years of unexplained infertility my husband (34) and I were lucky enough to fall pregnant following our first round of IVF with ICSI.

Earlier this week, at 12 weeks and 1 day we went for our 12 week scan and opted in for the nuchal measurement and combined blood tests. At the scan I was told I have a retro erred uterus and the sonographer said it was tricky to get a clear scan. She did an internal scan instead and did manage to get a nuchal measurement in the end but kept saying how tricky it was and at one point she said we would have to come back. The measurement was 1.5mm we she told us was good and she didn't see anything that worried her - no mention of nasal bone or anything.

I then happily went off to have my bloods taken and didn't expect to hear anything until a letter arrived a week or so later. We told a few close friends our happy news.....family already knew as were aware we had undergone IVF.

Unfortunately, a couple of days later, I received a call to say that due to my blood work, our baby had come back at high risk of having Down syndrome with a chance of 1 in 109. She told be my free beta hcg measured twice what it should be (so I'm guessing around 2 MoM) and my Papp-A measured 2/3 what it should (so I'm guessing around 0.66 MoM) and so despite the positive NT measurement we were considered high risk.

She ran through my options and we decided we would rather have the non-invasive pre-natal testing first rather than amnio due to miscarriage risk.

We were very lucky to be able to get an appointment today at the fetal medical centre on Harley street today to have the nuchal scan and bloods repeated and the harmony test bloods taken. It will be a 2 week wait for the results of the harmony test but the results of the nuchal test and bloods were as follows:

The lady was fab and did a very detailed scan. Unfortunately the NT measurement was higher at 2.5mm (I believe this one to be correct to the technology available and the fact is was done abdominallly which I believe is preferable as opposed to the previous internal one.) but she checked for all the other soft markers and said everything looked good...nasal bone and lots of other markets and she couldn't see anything wrong with my baby.

However, the blood tests then came back immediately, and have actually got worse to those taken 3 days ago by the nhs:
Free beta hcg: 2.16 MoM
Papp- a: 0.39 MoM

Taking the bloods, NT measurement and detailed scan the fetal medical clinic have given us a risk of 1 in 399 which is low risk but still higher than my age related risk and I am now very, very concerned that the NT measurement has increased and the bloods were worse. If the soft markers weren't taken into account then I can only think the risk based on today's findings would be much much worse than those given by the NHS earlier this week.

I know all we can do now is wait but I am sick with worry and finding it hard to stay positive. I realise there are no real questions asked here but am really wondering if anyone can offer any advice / experience on these results or similar ones. I just needed to get it off my chest and hopefully talk to other ps who have been through similar.

Thank you so much in advance xxxx

[BettyOBarley]

Hi,

I'm so sorry you are going through this as I know what a terrible wait it is.

We had a risk of 1:20 for Downs. Nuchal was 3mm and bloods were b-hcg 3.76 and papp-a was 1.1 (or thereabouts)

We went for the non-invasive testing which thankfully came back OK and I'm now 32 weeks.

It's a great sign that they didn't pick up any other markers at the scan and they do say the nuchal measurement will increase up to about 14 weeks as the baby grows so it could explain the higher measurement there.

I tried to think of things the other way, so if your risk is 1 in 399 that means only a 0.25% chance there is a problem and 99.75% chance there isn't.

Wishing all the best for you

[nennyrainbow]

As far as I know, the Harmony scan is expected to be the more accurate of the two, so you should be in with a good chance of everything being normal. 1 in nearly 400 is a low chance. If you had been given that risk at the NHS scan, it wouldn't be flagged up as high risk ( the cut-off at which you are offered an amniocentesis on the NHS is 1:150). Easy to say, but try to relax and enjoy the best of your pregnancy. Good luck!

[nennyrainbow]

Sorry, just realised you haven't yet got the Harmony test results as they take 2 weeks, so you're waiting. I really hope it goes well and you get a clear result ( and hope you find enjoyable ways to take your mind off it in the next 2 weeks). I know it's a bit of a waiting game.
I had a similar experience 3 years ago - NHS scan and blood test gave me a risk of 1:109. I didn't know much about the Harmony test at the time but was offered an amniocentesis on the NHS. The baby didn't have DS or other trisomies but, sadly, died a week after the amniocentesis, due to an infection. I also know a couple of people who have been assessed as high risk at the NHS scan but have gone on to have normal/ non-trisomy babies. Try to focus on the positive: a1 in 399 risk is a 0.25% chance - tiny!

[babynugget]

Hi lala. How are you bearing up? Horrendous place to be but please stay positive. My NT was completely normal but following bloods and taking into account other factors (My age mainly - was 35) I got the dreaded call. They talked me through what the results meant and that anything higher (or lower?) than 1:100 was considered high risk. They then hit me with my result - 1:6! My world literally stopped and I don't remember much else of what they told me after that. I was hysterical trying to tell my OH on the phone and he was desperately trying to keep me calm while making calls to get the full facts. I looked into all the options very quickly - I was much further on than you are so my options were limited. Harmony seemed much too long to wait for me and we opted for the Amnio. It was an unpleasant and terribly scary experience but the nurses were amazing, kept me calm and gave me perspective. I'm ashamed to say in the few days that passed between getting the initial 1:6 result and the amnio result I found myself trying not to think about my baby and the decisions I may have to make. I distanced myself from my pregnancy and walked around in a total haze. It was torture. My Amnio results came back within 36 hours - all clear! My DC is now 20 months old, bright as a button and a massive trouble maker. The nurses I dealt with at the screening clinic told me that the NT and bloods are never very reliable and they hate that so many parents have to deal with the worry. I hate that you are going through this and just wish you could have your results now.

[PunkrockerGirl]

I know the testing is more sophisticated now, but when I was pregnant with ds2 21 years ago,the blood test showed a 1:32 risk of Downs. Nobody had shared this with me and I went into what I thought was a normal antenatal appointment to be handed leaflets about what to expect with a Downs child.
I'm sure communication is better now and this wouldn't happen. Fwiw, ds was born healthy -I refused further testing because it wouldn't have made any difference.
Hope all goes well for you op

[Lala84]

Thank you so much for your replies, I really, really appreciate you all taking the time to do so.

It is helpful to hear such positive results/ experiences because at the moment this feels like a desperate situation. I am trying to cling on the the fact that the Fetal medicine centre has given us a revised result with better odds but can't get the fact out of my head that the NT measurement is now higher than the NHS based their risk on and so if it wasn't for the detailed scan that FMC did and the soft markers being ok then I hate to think what our risk would be based on simply my bloods and the Corrected NT measurement. Though I suppose the FMC are the experts.

Not feeling positive though my husband is trying his best to drag me out of this deep depression I have fallen into. At the Scan today the baby was so active and just rly brought home the reality we are facing at the mo. Obviously I love my child no matter what but of course I want them to be healthy and have all the opportunities to thrive in life. My husband
and I have decided not to discuss the tricky decision that may lie ahead at the mo but to wait for the harmony results and go from there. Like you say it's a waiting game now so will just have to keep everything crossed and hope for the best xxx

[quitecrunchy]

Hi lala, I had the same thing but with slightly lower NT and much higher hcg figures. Worried myself sick during the wait for the NIPT results but all was fine and the happiness I felt after getting the all clear and finding out the sex at the same time was indescribable. It is extremely likely that's the outcome you're in for too so please try to remain optimistic. I know it's easier said than done though when you're in this state of limbo.

[Sunnydays321]

Lala, sorry you are having a stressful time. But as a previous poster said the nuchal measurement does naturally increase up to 14 weeks, so it would be completely expected that it would be bigger today than the previous scan. And anything less than 3.5 is normal. Mine was almost 3 and my combined results were normal.

Also in terms of the soft markers, these are something extra They will look at on the scan for added reassurance. But as far as I know (definitely in my trust) they are not part of the combined screening. The combined results only take into account nt, bloods, age, height weight, ethnicity and whether you smoke. So the fact that the soft markers were reassuring wouldn't have affected your combined result today. I would say your 1:399 as a true reading. Which is low risk. And as PP says 99.75%chance of healthy baby! Xx

[wiltingfast]

Oh Lala, this is such a stressful time for you. I went through this a few yes ago, before harmony etc was available. The Nuchal was 4mm, can't recall the rest of the numbers but they were bad enough to prompt us to go for amino. It turned out our son has an extra X chromosome. we had him anyway as all the potential issues they talked about, it appeared to us any child could have them (speech infertility etc)

Just letting you know that even a "bad"outcome may not be that bad. It's not always Edwards or downs etc.

It was an incredibly tough period though. They wouldn't do the amino until I was c17w I think. Terrible. I'm in Ireland btw. U.K. care much more civilised.

[nannyplumislostinspace]

Lala the NT naturally increases as the baby gets larger. 2.5 is well within the normal range. From everything you have said, it sounds like the chances of your baby having T21 are very low.

[jellycat1]

Nothing helpful to add other than I've had the harmony at the FMC twice and both times the results were back in around a week rather than two so dont feel like you can't call or email them earlier if you're really anxious. Best of luck.

[Allibear]

Sounds like all will be okay :)
Babies with DS are super gorgeous and loving though, so even if it does work out like that I wouldn't worry, you're in for a treat 😘

[summerson]

Hi LaLa I am 12 weeks and have my combined test scheduled for tomorrow following IVF too. Regardless of results I have booked the Harmony test for next week anyway, for various reasons, but I wanted to share with you this bit of information I found online yesterday:

""Free beta-hCG and hCG levels tend to be about 10% higher and uE3 and PAPP-A levels about 10% lower in women who have become pregnant as a result of IVF compared with non-IVF pregnancies""

So effectively, having had IVF could be negatively impacting your T21 risk results. I'm sure you have nothing to worry about, the age odds are in your favour but appreciate it is a hugely difficult time.

Hope the Harmony results come back super speedy so you can move forward.

Take care,

[Lala84]

Just to update in case anyone else is in a similar situation and wanting to know the result. We got good news today (in just 5 days, not 2 weeks) and based on the harmony test have a 1:10,000 chance and we are happy with that and will not be proceeding with any invasive testing. We are over the moon.

I'd like to say a huge thank you for all your support and reassurance. It really is much appreciated!

Xxx

[quitecrunchy]

Glad you got good news!

[LBNM19]

That's brilliant news, congratulations on your pregnancy xx

[nennyrainbow]

Excellent! Enjoy it!

[wiltingfast]

So PLEASED

Enjoy the rest of your pregnancy now