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Original poster

High risk downs result

26 replies

Amy9417 · 22/05/2019 17:25

Hey everyone, first time posting🙊

So I had my 12 week dating scan 2 days ago and also did the chromosome screening tests.
The NT was 2.3mm, so within the normal range but to me still slightly high? Then I had a phone call about my blood results yesterday saying that my downs risk is 1:107. My bHCG was 1.24 and PAPP-A was 0.44, she said the reason my risk is high is because the hcg and papp-a numbers have such a big gap in between.
They offered me a cvs test which I really want to do just to get a definite answer but at the same time the small risk of miscarrying scares the hell out of me! Has anyone else had this?

OP posts:
ReganSomerset · 22/05/2019 17:29

Maybe do the harmony test first? It takes a couple of weeks for the results to get back to you though.

What's the percentage chance of miscarriage versus the chance of downs syndrome? And what would you do if the baby did have downs?

Original poster
Amy9417 · 22/05/2019 17:39

I really want to do the harmony test but it's really quite pricey! And the midwife said the risk of miscarriage from a CVS is less than 1%, if it came back that my baby had downs I would still continue with the pregnancy as I couldn't bring myself to abort it. I'd just want to know just so that I can be prepared for it

OP posts:
Rachyabbadabbadoo · 22/05/2019 17:43

I had similar a few years ago, my risk was 1:75, and I don't mind admitting that I was in a complete state. However, please try and remember it's not a diagnostic test, it just gives you what the odds are. My midwife kept saying "the chances are everything will be fine" and I kept repeating this in my head. I went for an amnio, and I was given the all clear. I honestly don't know what I would have done if it hadn't been ok, and was encouraged by the medical team to take each step as it came, and not to think too far ahead. Also, my result, if converted to a percentage was 0.01% or similar, which sounds much less scary! I hope it all works out for you x

Original poster
Amy9417 · 22/05/2019 17:50

That's all I keep saying in my head "odds are in my favour" but I can't help but think the worst! It's such a difficult decision to make, I just don't want to put my baby at risk! Especially if I went for the CVS and the results came back fine and then ended up losing my baby as a result I would hate myself forever! My head says one thing, my heart says another😞

OP posts:
chocatoo · 22/05/2019 17:55

My DD is now an adult. I had an amniocentesis test because I needed to know with 100% certainty so I could enjoy the rest of the pregnancy or get my head round it if necessary. Nurse explained that altho the percentage of miscarriage was x, the percentage of the consultant who did mine was much lower as she was very experienced. Hope all is well for you.

supermommyof4 · 22/05/2019 17:57

Personally i didn't go for the amnio because i knew in my heart I didn't care and would still have the baby. My way of looking at it was this, i have plenty of time to prepare and research further ahead if my child had indeed had downs syndrome, still needs the same love and care as any other baby and we just learn as we go dont we? As any parent does, no one has a manual so its all the same.

lightlypoached · 22/05/2019 17:58

I had this (16 years ago). Had the cvs which was fine with the test itself taking a few minutes (results taking between a few days and 2 weeks). Turns out we (dc and I ) both have a dodgy chromosome and after genetic counselling it all ended up fine. Dc is now a strapping 16 Yo.

Turns out the dodgy chromosome runs in my family.

Cvs miscarriage risk varies by doctor so ask for their personal 'success' rate 1st if that's a big worry.

It's all very stressful and upsetting so sending you good calming vibes.
Thanks
Good luck.

stucknoue · 22/05/2019 17:59

If you wouldn't abort I would simply ask for detailed scans at 20 weeks including an echocardiogram because the biggest risk with downs is heart problems - this could influence your decision

lovemylkids43 · 22/05/2019 18:00

I had this test done .. I had a 1 in 200 chance of downs of my child so like you wanted a definitive answer however wouldn't of made a difference .. my bloods were also showing something I had the test and baby was absolutely fine

Sculpin · 22/05/2019 18:04

I had a 1 in 200 risk. I just wanted to know one way or another, so I had an amnio which showed the baby didn't have downs. Good luck with your decision OP.

SentosaCove · 22/05/2019 18:05

I have had 2 amnios. The odds of miscarriage are also skewed because they are based on worldwide figures and include countries with much lower levels of care. Again, as others have said, check the consultants figures.

DC1 was 1/35 odds due to nuchal fold, age and blood tests. Came back all fine. DC2 odds were 1/3500-ish but had to have an amnio at 27 weeks due to other potential issue spotted at 25 weeks. All came back OK.

The anticipation of the amnio and the build up to it is far worse than the actual procedure. If you go ahead with it and are able to have some kind of distraction then it will be over before you know it. A good doctor won't go ahead with it unless the baby is relaxed and they go as far away from the baby as possible when doing the procedure.

Take care. Hope it all goes well.

Aberforthsgoat · 22/05/2019 18:09

I had this and did the harmony - however when I got my first result from nhs I didn’t get told the break down of hormone levels. When I had the harmony she said the Papp-a had completely skewed my result and my actual result was 1:7000 when They did it as they take into consideration more factors.
My level of Papp-a was the same as yours btw but I can’t remember what my hcg level was

Littlebelina · 22/05/2019 18:14

If you are not going to abort would an NIPT test (one variant is the harmony) be an option? It's still screening (so not definite) but is thought be 99% accurate for Down's syndrome. It is not cheap at around 400 quid through private clinics but consists of a blood test (looking for fetal DNA present in the mother's blood)and another scan so there is no risk to your baby.

As another poster says if you don't have the CVS you should get offered more detailed scans at later time points which may throw up more soft or hard markers for down syndrome (heart conditions being one of them). Perhaps give ARC a call as they can talk you through all the tests, I've heard people say they are good.

I had an amnio with dd1 as she had a heart condition and we wanted to check there wasn't a chromosome issue as well (there wasn't). The thought of it was worse than the reality, a little crampy as the needle went in and rested for a day or so afterwards.

tomtom1999xx · 22/05/2019 18:15

Op:
I had a 1.82 risk of downs ( 12 years ago ) so no blood tests available back then.
It was based on my NT scan - which funnily enough was only 2.3 same as yours, but with my age it pushed me into the ‘high risk’ band.
I had the CVS because I just had to know for sure.
7 days after the CVS I miscarried a perfectly healthy baby, the baby did not have Down’s syndrome.
I have to live with that decision for the rest of my life.
I wouldn’t do it if I were you.

ReganSomerset · 22/05/2019 18:16

I'm another that wouldn't have the cvs if I knew I wasn't going to abort. I would presume the worst and hope for the best. I'd tell everyone it was a possibility, read up on it extensively, get them to look very closely at the 20 week scan and go from there.

tomtom1999xx · 22/05/2019 18:19

Oh, & I had it down at a large teaching hospital where their miscarriage rate was only .5%.

ReganSomerset · 22/05/2019 18:23

Sorry for your loss @tomtom1999xx

tomtom1999xx · 22/05/2019 18:26

Thank you.
x

CherryPavlova · 22/05/2019 18:32

I only had AFP testing then a choice to have amniocentesis testing when I was pregnant. I was told my son was a very high risk of a trisomy abnormality by a phone call from my obstetrician on a Sunday evening.
Luckily I had a lovely wise GP who told us to spend time thinking about what we’d do if amniocentesis showed an even higher risk. Would we terminate for a Down Syndrome probability? We searched our souls and decided we wouldn’t so didn’t go ahead with amniocentesis.
I spent a good few weeks thinking I was carrying a baby with Down syndrome but luckily the statistics were not right in our case. He was a perfectly healthy baby boy.
I think you have to be clear what you would do with the information before you decide to go ahead with further testing.

Original poster
Amy9417 · 22/05/2019 18:39

Thankyou for your comments everyone, and @tomtom1999xx I’m so sorry for your loss. That’s my biggest fear I think, having it done and then ending up losing a perfectly healthy baby.. I really would like to do the NIPT as I just don’t feel confident enough to have the CVS, as much as I’d like a definite answer i think it scares me too much. Such a shame I don’t have a spare £400 lying aroundSad they’ve booked me an early anomaly scan at 18 weeks so I guess i’ll just see what the outcome of that will be! X

OP posts:
Heratnumber7 · 22/05/2019 19:03

I think whether or not you have the test would depend on what you plan to do if the results confirm Downs.
If you'd have the baby anyway, then there's not much point in taking the risk that goes along with having the test.

Before you decide, could you find an opportunity to talk to people who have Downs and/or their parents?

Angelinthenightx · 22/05/2019 19:07

Hi i wouldnt get it done if your going to keep your baby no matter what then it isnt worth the risk,i know u will have lots of worries but the risk is there if u get the test. Xxx

ruralcat · 22/05/2019 19:13

If you plan to keep the baby regardless of the result there is the option to have the amnio later in the pregnancy when the risk is premature birth (at a gestation with very good outcomes) vs miscarriage. We were given that choice but decided against it in the end and waited until she was born, healthy despite markers on the scan.

JackiePaper · 22/05/2019 19:13

Just remember the NIPT is also a screening test, it doesn’t give you a definite answer. I have known it be wrong, both ways. Good luck with whatever you decide x

gingeristhenewblack43 · 22/05/2019 19:47

My 16 week blood results came back as 1:31. I was very highly pressured to have an amnio and abort. It broke my heart that the NHS professionals felt this way about a baby with the possibility of having Downs.

I refused the amnio and switched hospitals. Furthers scans raised the risk to 1:7.

I had a planned c-section as the scans showed duodrenal atresia (bowel blockage).

I now have a healthy 7 year old who does not have Downs, she does have some minor bowel issues that are managed with medication.

When I was in a similar place to you the thought of having the amnio and risking a miscarriage caused me a lot of anxiety and distress. The thought of continuing with the pregnancy made me feel calm. That was the main factor in my decision.

You need to take some time and space to establish your own thoughts and feelings before you make any decision on what to do

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