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Did your high risk result for Down's syndrome result in a baby with DS?

(67 Posts)
needtobeanonforabit Mon 27-Feb-17 16:25:10

Coming to the end of my 2nd trimester we received the sad news today that I am high risk for our baby having Downs at 1:44, the neck measurement at our 12week scan was also 3mm. Threshold for normal range is apparently 1:297 and below 3.5mm.

Booked into have the Harmony blood test, and if this comes back as positive still, we will opt for the CVS for a more conclusive result. I don't know yet that we would even act on it if it did come back as conclusively for Down's. I don't know enough about Down's to be making an informed decision at this stage and I don't know that I could bring myself to do it anyway, but I just feel that I need to know one way or another.

So my question is, if you also had a high risk given to you in the NHS initial blood work for chromosome abnormalities at 12 weeks, what was the figure and what was the result?

Thanks in advance to anyone who is happy to share,

From a very frightened first timer :-( x

needtobeanonforabit Mon 27-Feb-17 16:26:09

Coming to the end of my FIRST trimester that should read, not 2nd, sorry blush

Alicekeach Mon 27-Feb-17 16:26:29

My risk was 1 in 70 from the NHS. Harmony came back 1 in 10,000 and baby was fine. It's a worrying time, I remember it well.

Mooseville Mon 27-Feb-17 16:49:17

We were 1:10 with a nuchal of 2.9

All clear on the harmony. I feel for you as it's such a worrying time. The best you can do is try to forget about it until you get the results as the discussing backwards and forwards what we'd do drive us crazy.
You don't say how old you are, but what I found from all my googling is the older you are the more false positives there are with the combined test. Up to 60% at 40+! That's a lot if women being given very worrying news for no reason...

ILoveMyMonkey Mon 27-Feb-17 17:07:16

My risk was 1:40. This was based on my blood tests, the nuchal measurement was normal. This was before the harmony test was available so we opted to have an amniocentesis not because we were considering abortion (we'd decided we would keep the baby no matter what the result) but, like you, because we needed to know and prepare for a possible DS outcome. All turned out ok and my son did not have DS. It was a very scary and emotional time though. After the amniocentesis results I realised that the percentage chance of a 1:40 is only 2.5% which with didn't seem like quite such a big deal or as scary.

I hope your tests go well and that all is clear. Be kind to yourself, the wait is the worst part I think. flowers

needtobeanonforabit Mon 27-Feb-17 17:09:10

Thanks both. I am absolutely beside myself and feel such a monster too for feeling this way sad

Mooseville I'm 32 so older but not classed as higher risk I didn't think?

In my googling, I also found several people who had high risk results at this stage but a healthy baby born making reference to having had a high HCG level ... Does anyone know if this is relevant? Just wondering because I have suffered quite badly with morning sickness which I think indicates high HCG? (Is that what makes you sick?)

needtobeanonforabit Mon 27-Feb-17 17:11:24

Thanks too ilovemymonkey - cross posted, sorry blush

The wait is definitely the worse bit already. For those that had the Harmony, do you remember how long you had to wait for the result? I'm having it done tomorrow at my local NHS hospital.

ILoveMyMonkey Mon 27-Feb-17 17:13:43

Don't be sorry.

In terms of the HCG I'm not sure but I did read, after our scare, that bleeding in the first trimester can affect the blood test results and I had a massive bleed at 7 weeks so maybe there's something in it.

Hopefully you won't have to wait long for your results.

RyanStartedTheFire Mon 27-Feb-17 17:20:09

I had a 1 in 150 chance with a massive NT (about 5mm) and my DD did have a chromosomal abnormality. I actually found a lot more people with smaller numbers than me had babies that were absolutely fine.

If you need advice as you go forward OP, in regard to CVS/amnio. I'm happy to advise as much as I can flowers so sorry you have to go through this.

EggysMom Mon 27-Feb-17 17:38:40

I had a 1-in-5 chance of DS, and declined further testing so was given more scans/monitoring by specialists. They took some measurements and they thought a short femur length also suggested DS.

Nah, his short femur was because he was a very small baby! He was born premature at 29+1, weighed just 1lb6oz.

He doesn't have DS. He is deaf, autistic, non-verbal, significant learning delay ... but not Downs.

Stitchosaurus Mon 27-Feb-17 17:45:01

I had a 1 in 56 chance and the nuchal measurement was 6.1mm...as it was so high, they seemed pretty certain it was Down syndrome...but actually DS didn't have that, any chromosome issues or heart problems.

I still have no idea what caused such a huge reading. My bloods were fine and brought my risk down.

Good luck - as you've said, the waiting is the worst part

Applebite Mon 27-Feb-17 17:47:57

My friend was 1 in 3! She had an amnio and her son does not have DS.

If you imagine a bag with 43 white balls in and 1 black ball, and you have to put in your hand without looking and pull out the black ball, how likely would it be? Try and focus on that until you get your results - lots of luck and flowers for the worry

PuffinDodger Mon 27-Feb-17 17:50:40

I had a 10% chance of a different condition (not DS) the GP reminded me that that meant a 90% chance of no problem which helped. (She didn't have the condition.)

needtobeanonforabit Mon 27-Feb-17 20:13:16

If you imagine a bag with 43 white balls in and 1 black ball, and you have to put in your hand without looking and pull out the black ball, how likely would it be?

Thank you Applebite, that actually really helped x

I have googled and apparently it takes 7 days for the harmony test results hmm ... It's going to be a looooong 7 days.

Robinredface Mon 27-Feb-17 20:17:42

Our baby had a nuchal measurement of 3.8mm which was high risk in itself, we went for nipt there and then. It turned out that our baby did have trisomy 21.
The risk combined with bloods came back at the same time as 1/6, unfortunately we were that 1. It's a horrible thing to have to go through.

SallyGinnamon Mon 27-Feb-17 20:22:03

Can't remember the numbers after nuchal scan but was high risk. I had amniocentesis (DD is 13) which came back pretty much clear. DD doesn't have DS.

NeverAShadowOfDoubt Mon 27-Feb-17 20:30:01

I had NIPT done (it was the Iona test) done at 13 weeks due to one of my twins having an increased nuchal measurement of 6.1mm. Combined bloods came back with high risk of 1:14 compared to 1:28,000 for his twin sister. We obviously were very concerned but my NIPT came back a week later as very low risk 1:1,000,000. I later had a 3rd trimester amniocentesis for other reasons which came back all clear. He is now 8 weeks old and perfect!

Patriciathestripper1 Mon 27-Feb-17 20:30:10

I was 43 when fell pregnant with Dd (now 10)
I was on the high percentage so went for amino and everything was fine. Good luck with your pregnancy flowers

Notsure1234 Mon 27-Feb-17 20:43:23

I was 1:133 for ds, went for the cvs and all clear. Ds does not have ds. He had a normal nuchal result and I was only 25 but my bloods gave the higher risk. I had low Papp-a which caused it and took baby aspirin for the rest of my pregnancy to aid placental function.

Just had my scan and screening for dc2 today so waiting anxiously for the results again.

Oysterbabe Mon 27-Feb-17 20:56:12

One of my good friends got a risk factor of 1:3500 and her DD has DS. I don't think the combined test is very good TBH. Best of luck to you flowers

BlytheofWindyWillows Mon 27-Feb-17 21:32:18

I have been on both sides, my pregnancy with DD1 was low risk, she has Down's syndrome. I'm now 19 weeks pregnant with DD2 and was given a 1 in 5 for Down's syndrome with a nuchal measurement of 3.2mm. The CVS came back clear. I wish you the best of luck and if you have any questions i'll do my best to answer them.

Whyisitsodifficult Mon 27-Feb-17 21:37:42

My 3rd pregnancy at the age of 38 came back with a result of 1:27, I can't remember any of the other numbers. We had a cvs and all came back as fine and she is. My heart goes out to you as I know how worrying all the waiting can be, best of luck.

Swifey Mon 27-Feb-17 21:45:32

I haven't read the whole thread, but just wanted to give you a bit of info, hope I'm not repeating someone else.

There is a test called the Nifty test, it's a private test although I think the NHS are starting to use it. It gives you a definite diagnosis of downs or not, only using a blood test. It was about £500 but so worth it. The private clinics are across the country, but I have been to London and Cardiff and both were lovely. I did it because I was older, and because my db and sil had a downs baby, and they didn't know until he was born. The initial shock was absolutely awful and they didn't have a clue about DS. Now dn is a gorgeous 3 year old. Anyway, pm me if you want anymore info. Lots of luck flowers

needtobeanonforabit Tue 28-Feb-17 07:39:46

Thank you to everyone for your kind messages of support. I'm really struggling with all this and it helps.

swifey I'm having the Harmony blood test today which is the private NIPT test and I think the same as what you describe.

Izzadoraduncancan Tue 28-Feb-17 07:45:38

I had a 1:18 high risk outcome for DS based on NS and blood test. I was only 22 at the time. DS is now 20 years old and studying Maths at university.
It was so very stressful. I had the harmony blood test for my last 2 babies and I would recommend it highly.
Wishing you the best

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