'High risk' (1:85) chance of downs - hand hold please

[gimmeadoughnut123]

Hi

I had a call from our hospital last night to say I am considered high risk for downs. I am 25 so age isn't a factor. They said 1 in 85 which means 1.1% of downs and basically 99% of a healthy little bubba.

There's no way we will go for any of the testing that carries miscarriage risks with it, but I am torn as to if we should have the harmony test. It's £250 at the hospital or £400 private. We would probably wait 2 weeks for results because of Christmas.

We have both said even if the baby had downs we would not terminate.

They didn't give me my measurements so not 100% on my markers but she did say my PAPP A in my blood was low so I would get extra scans anyway. I've googled and apparently if your measurements are ok often there's nothing wrong with baby just from bloods. But I don't know them. They did say during my 12w scan that everything looked ok.

Can I have a hand hold and some positive stories? What would you do? Harmony test or accept what will be will be?
I wish I had my measurements - now need to wait until Monday!!

Sorry to hear your news but remember it is still highly likely your baby will be completely healthy. If it were me I would have the harmony test just so I could prepare myself fully for all possibilities.

I know they say 'high' but 1.1% chance is very low really. If someone said you had a 1.1% chance of wining the lottery you wouldn't go out and start spending.
I haven't been in your situation but I think I would want to know either way, chances are that your baby does not have DS and you will know for sure but if it comes back positive you have the time to prepare yourselves and do any necessary research whilst you still have a bit of time before the baby arrives.

Hi - I’m 34 weeks pregnant now and had the exact same risk after our 12 week scan. I’m 28 so a little older but still not carrying age factor risk. Our measurements were 4.7 NT which is pretty high. We were sent for a second scan the following week at a more specialised hospital and it had gone down to 3.6. We chose to go with CVS as we preferred to have a definitive result rather than another probability score. And CVS screens for all abnormalities not just the three major ones which harmoney does, so we would have discovered if he had any heart conditions etc. We live in London and didn’t think we would be able to financially copy with a baby who might have special needs as we need both salaries to pay rent so it was a factor for us. The miscarriage risk was very low at our hospital as it’s one of the best and most specialised in the country, plus we were told a lot of babies who sadly don’t make it had conditions not compatible with life. But that having been said I totally understand your decision to not want that, particularly if the result won’t impact any decisions.

In any case the results came back clear. Since then we have had a lot of additional scans and the baby is thriving - he’s a huge healthy boy.

This is such a dreadful anxious time... if I had any advice it’s that people find it hard to support you and don’t know what to say so you might find that you and your partner just want to be quite insular - I read that ARC is a great service for support.

Thinking of you ❤️❤️

I’ve had a harmony test twice. The first time because we had a high result like you, second time as soon as I found out I was pregnant again we booked one as I was a few years older and age first time round was one of my risk factors.

Typically my test results from NHS came back all fine but by then we’d had it done! I did say to my partner I wouldn’t terminate but I do have very anxiety and I just needed to know.

As PP said we found the ARC helpline absolutely fantastic.

Thanks guys. After a sleepless night I have decided I would like to harmony test. I don't want to be studying my babies face when it is born to work out if it has DS, and if I get high risk again then I have time to come to terms with it.

Annoyingly no private places near us have space until January. So at the moment it means waiting until Monday to call the hospital to see when they can. I thought private might get me quicker results than the hospital but maybe not.

I feel totally selfish. If it does have DS it can still play and live a very happy life. I've been able to feel it move for the first time today and this has just totally clouded everything.

Husband does not want the harmony test and says what will be will be, but hey, I didn't want any of the screening at all.

I'm also questioning my measurements from the 12w scan as baby was moving a LOT. Wondering if this has all just come from my PAPP A count.
Why did I get left with all this over a weekend when the maternity unit is shut???

That sounds so stressful for you... did they not give you your measurements at the time? We were offered the harmony test or CVS straight away.... will they definitely make you wait?

I don’t think you can tell on the scan visually any problems unfortunately... I could be totally wrong but I’m not sure they know unless they actually do blood work or look at the cells....

I'd do harmony through the hospital- I did -
found out sat am- and I just had the blood taken Monday morning, posted it special delivery and waited nervously. Low papp-A as well. Turned out fine, took my mini aspirin daily, baby measured big throughout on scans, and was induced at 38+2 due to measuring big - no issues with placenta or pre eclampsia.

My view was that we wanted to be prepared - so if there were issues we'd plan birth in the right place - hence harmony test rather than wait and see. We also decided to find out the sex as its included.

Hope all is ok and you get the support/answers you need. My measurements from 12 week scan are in my notes, sonographer slid a sheet in there which included any findings so check your notes xx

I would get the harmony as well. Remember, if the harmony test is high risk (which is an almost certainly of a positive) that many babies with DS have significant additional needs so it will help you prepare and also ensure you have several extra scans to check the baby’s heart is functioning as it should - if not, you may need to give birth in a specialised hospital as some babies need very urgent heart surgery and it is safer for you to travel to give birth and stay there for the surgery than for them to travel as babies.

Also sonographers are very used to measuring active babies and take multiple measurements; it’s not just one nuchal measurement during the scan that is used but several and then the highest one is used for the test results.

Your dating scan paperwork should tell you what the measurement was.

I think you’re making the right decision- even if the result doesn’t matter to you in terms of outcomes I’d prefer to know upfront rather than spend the next 6.5 months with (the very small) possibility weighing on your mind.

Whatever the result you can deal with it and look forward to meeting your baby.

Just read better. Points for your husband

My view on DS crystallized during the wait for Harmony results...

1. 20 week scan would be crucial- some of the co-morbities would make me question quality of life but "Just" DS wouldn't.

1. If a child were likely to have issues I wanted to give them the best possible chance. Finding out at birth could compromise that - if indicated you can plan where (ie major regional hospital), hospital can take extra precautions in labour- more monitoring, paediatric Drs in the room for birth rather than being checked by a midwife with several patients to deal with. Planned induction or CS might be indicated as well.

1. Knowledge is power. If you know you can start planning to get support in place, before the fog of just stumbling from decision to decision while operating on minimal broken sleep...

The actual test for NHS organised harmony was just one blood test (special tube). So very easily squeezed in by my massively overstretched and in special measures trust... the specialised bit is extracting and assessing the DNA which takes a decent amount of time (and I think is largely computerised)

Hope this helps a bit.

I didn't even think to look in my notes!! I'm an idiot. But I can't remember where I have put them in all this flurry. Think they're n the car, under a pram we have been given...Will go out when it's stopped chucking it down and hunt them down.

I have had a good chat with DH this morning and we are both focussing on the fact that 1.1% of absolutely minute, with a 98.9% chance that it won't have downs. Staying positive! But will still have harmony anyway.

Excuse the typos, I have no patience for my phone this morning, MN keeps freezing on it.

Hey. Just thought I would share my experience with you. I'm 29 years old and I'm 37 weeks pregnant now. During the summer we came back as high risk with 1:65. I didn't for a minute think we could be high risk as as far as I was aware we didn't fit any of the categories.
Like you we didn't want to get an amnio as that comes with risk of miscarriage. We opted to have the harmony test purely because we wanted to be prepared. Down's syndrome can come with a whole host of problems, mainly heart problems and we just wanted to be prepared. Even if it came back positive we knew we didn't want to terminate.
The harmony test came back within a couple of days although we were told two weeks. It came back all clear. And although it was a relief, I was prepared should it have come back positive.
Hope it doesn't take too long to come back

Thanks jellyfish, that help me relax!!

So I have just got my measurements out of the car. 13 + 2, CRL of 70.8mm and NT of 2.9mm. Which seems fine to me?!
So I am assume they are purely putting me as high risk due to low PAPP A. I have read that blood work alone with no measurement issues is never a huge give away. Can I stop panicking?

DH is now saying if the baby looked fine he would prefer not to go ahead with harmony.

Hi - those measurements are definitely lower than mine so that’s positive for you! I would just say it’s not about how the baby looks on the scan - the risk can be to the babies heart and you wouldn’t be able to see this - there aren’t visual markers. Did the consultants give you any advice?

I had a slightly lower risk than you and didn’t end up doing the harmony test. Mine was mostly due to low PAPP-A as well. My baby didn’t have downs but did have IUGR and I had eclampsia. We’re both fine now. Similar happened to a friend who got a higher risk due to low PAPP-A, no downs but other problems with the pregnancy. Also both fine now.

@le42 no she was at home and only called me as I was crying on the phone go the admin staff. She said to consider if we wanted further tests and just said about my PAPP A being low. Didn't say what made it up other than that.

@gimmeadoughnut123 sorry to hear you’re going through this. I am currently 15+3, and in the same position. Had bloods and scan at 12 weeks scan was fine measurements the same or slightly lower than yours but bloods showed high risk for downs and Edwards mainly due to low PAPP A. I decided not to have the invasive tests or harmony test but have been offered an additional scan at 16 weeks with a medical consultant so I can decide after that what I wish to do.

I hope everything is fine for you and baby is healthy and hope the harmony test gives you the answers you need sending lots of hugs 💐💐

My result came back 1:40. I had an amniocentesis which was negative and she is now a very healthy 13 year old.

Sorry should have said I was 21 at the time

My risk was 1 in 50 with just low papp-a for what it's worth, but I am older.

I don't understand why your husband is against the Harmony test - but is happy with the combined test you just had and the 20 week scan.

I had a 1:52 risk. I had amnio (I was 36 and wanted to know for sure just to know) and it was negative.