High risk Down's Syndrome pregnancy

[Southy7]

Hi mums/dads/parents-to-be,

My wife and I recently discovered she is pregnant and we've been over the moon, believing it would never happen. My wife is 38 years old and we have today received alarming news from our 12 week NHS scan. The midwife called to say that the results show we have a 1 in 31 chance of the baby having Down's Syndrome which had terrified us. We have booked for an appointment for a Harmony test (NIPT) tomorrow evening which we understand is far more accurate, testing the DNA found present in the mother's blood and not factoring in her age.

We would love to hear from those of you whom have had similar test results with the NHS and those of you that may be able to offer insight and advice surrounding this scary news. FYI the NHS results show low chance of Edward's and Patau's (1 in 26,333).

I feel devastated at the moment, being one to dwell on bad news all too easily. Conversely my wife, although very concerned, is putting on a much braver face.

I look forward to your responses.

Thank you,

Southy7 😞

FWIW the call we received today with the results really shocked us since the sonographer seemed very confident we'd have nothing to worry about, having measured the neck of the baby on the ultrasound, adding that it was within normal parameters in conversation with us.

Hi there. I was 41 when I had ds2, so was expecting a high risk. It came back as 1:2, which was somewhat starker than I had been expecting. There was no NIPT test at the time, but we continued with the pregnancy.

I understand your feelings completely. When I had ds1, two years earlier I had been very frightened of my high risk. With ds2 I had had time to do a lot of research, and was a lot less frightened - there is a lot of misinformation out there, but also a lot of positive things to read about children with Down's. It doesn't have to be the fearful diagnosis which you might think.

Wishing you well with your NIPT test and your future journey.

I had an amnio at 20 weeks, when expecting, aged 44. I was told I had a risk of one in 40, but it was fine.

And, surprisingly, the procedure was completely pain free.

I got a 1:18 earlier this year. Had the non invasive tear and got a very low risk.l result back. Am now 28 weeks and all seems ok.

I was given odds of 1:5 due to a high NT measurement. We did the harmony test. Extremely reliable and we were happy to trust the results.

One week later results showed 1:10,000
DD was born with no issues.

@Mintjulia did you skip the NIPT to have an amnio? When they say it is a diagnostic test I take it they mean it provides a simple yes or no to Down's? But there's a 1% risk of miscarriage which scares us. And does the amnio carry a certain percentage failure rate? We've been told the CVS invasive test also carries a 1% risk of miscarriage and a 2 to 3% failure rate.

@Paperyfish do you recall and are willing to share what the "very low risk" was figures wise?

@Notverygrownup thank you very much for the thoughtful message 🙂

You are welcome.

When and if you need to, you might want to read something like these sites
positive about Down's

the ups of Down's

At the time (2008), the amnio was the only accurate test available, and my consultant advised me to go for it, for the peace of mind. I'd had a trouble free pregnancy and felt the risk was worth it.

@Madeforthis so do you think that results similar to yours would fully negate consideration for one of the diagnostic invasive tests?

We decided that we were happy to trust the reliability of the test. We didn't have any further testing. It's not a diagnostic test but it's highly accurate.

I had had a previous miscarriage and didn't want to take any chance at all.

Remember even a 1:31 result is a very low percentage risk.

If the results had came back high risk we would have had an amnio to be 100%

I had a 1 in 50 chance and ended up having an amnio as I just wanted to know for certain - the not knowing was too difficult for me. The pregnancy was immediately after a 17 week miscarriage so I was terrified of the 1 percent miscarriage risk. But I was told to look at the data specifically for the person performing the amnio and in my instance they had never had an amnio result in miscarriage in 7 years so that was my decision made. This was in 2007 before there was another option/ test available. I remember the 3 day wait for the amnio result was very hard. My daughter is now 13 and doesn't have down syndrome. I wish you all the best tomorrow.

It went from 1:18 to 1: 1000000
It’s the lowest risk rating they give, I believe.

My result came back as 1:11 which was a complete shock as previous pregnancy has been low risk. We refused all diagnostic tests due to the risk of miscarriage (having had two previously we weren't risking another). DS is now 3 and we have no concerns in that respect.

@Paperyfish that must have been the most amazing news receiving those new results!

@Bohoboo I had no idea that you could gain access to such data on individuals. Thanks for the message.

@Madeforthis the wait after tomorrow's test will be excruciating. 7 to 10 working days we're told. Fingers crossed.

The higher age bracket is a big factor in calculating risk, so it may not be the case.

@Haggertyjane yes that's what we're hopeful is the main driving force behind the high risk number we've been given. We've examined the paperwork handed over by the sonographer and it looks like our NT measurement is 2.4 so there must be something on the blood work that's causing it to rise because apparently anything under a measurement of 3.5 is considered normal.

Hi there- everything crossed for you, I've actually just started a new thread today (I'm brand new to this so forgive me for jumping in) as I'm 41 and have just had a scan which measured 4.5mm NT at only 10+4. I had the NIPT the same day (2 days ago) and awaiting the results. The consultant seemed very alarmed though so I am already feeling devastated. Does your wife have any other children? I think that is what I am finding the hardest, this really was my last chance to be a mum.
Hoping for a more positive outcome for you both.

@mikey4 sorry for the late reply. I'm not getting notifications for some reason. So we've had our NIPT on Thursday the 7th and are now playing the waiting game. Been told it's 7 to 10 working days for a result. Guess you've been told similar as they likely use the same laboratories? Praying for good news or we'll have more waiting for an amnio and results.
My wife has never had children. I sincerely hope you get a good result from your NIPT. Our NIPT sonographer said that people can have higher NT readings and still have perfectly healthy babies without any syndromes so please don't lose hope. I'll add you to my prayers.

Thank you so much, our clinic actually told us 3-5 working days so this coming Wednesday should be the latest we hear. I just felt that as soon as the consultant saw the NT and told us anything over 3.5mm is cause for concern they rushed us out almost. I’m sure I’m being overly sensitive but the NT coupled with my age and never having had a successful pregnancy makes me just think the worst, and actually not even knowing what ‘the worst’ is. This was a very much wanted pregnancy and I’m trying to hold out some hope as worrying my stress is making things worse. Anyway so sorry for going on and I truly hope all works out for you. Love and prayers to you both 🙏

My DD is now 9, when I went for my 12 week scan the hospital we went to did not routinely measure the nuchal fold. I had a blood test at 16 weeks and received a phone call from the hospital that we were 1:31 risk for Down's. The nurse who rang tried to book me in for an amnio (there were no other diagnostic options at that time) that afternoon but I refused and said I needed to speak to my DH.

We saw a consultant at the hospital the next day who was truly awful in his attitude towards children / people with Down's: that they would be a drain on the NHS and we would have no life. He told be that I only had a limited amount of time left to have an abortion. He took it as a done deal that no one would carry on with a pregnancy if they knew their baby had Down's.

My DH and I both worked with people with disabilities, many of whom had Down's. I was almost 38 and it had taken a long time for me to fall pregnant, so the amnio was not a risk I was willing to take.

Further scans raised the risk to 1:7 due to femur length and distance between her eyes.

My DD is your average 9 year old with long legs and an attitude. Chromosomal tests done at birth were all clear.

When you receive the results only you two can decide what is best for your family. And trust your own feelings and instincts. When I thought of having the amnio I felt anxious and upset, when I thought of not having the amnio I felt calm and relieved. That was the deciding factor in our choice.

@gingeristhenewblack43 so you had the same initial results as us with 1 in 31. We've discussed it and so far we think we will have an amnio if the NIPT results come back high risk too. As to what qualifies as high risk from an NIPT result I'm not sure but hopefully that will be made clear in the results we receive. I understand that the NIPT also gives probability results too so there is always a risk.
A 1 in 100 risk of miscarriage with an amnio scares us so we will need to discuss that in due course.
I'm very happy for you that you made the brave choice to go ahead without placing the pregnancy at risk with an amnio and that it paid off for you. That's fantastic and you must have been over the moon.
I'm also sorry that you had such a bad experience with your consultant.
The waiting game is an exercise in frustration as it's all my wife and I can think about.

@mikey4 only if you're comfortable doing so, please feel free to share your results when you get them.
I don't want to stress you further but with your NIPT being done at 10+4 I assume the consultant warned you of a chance of the need for a redraw where they fail to get enough of the baby's DNA in the mother's blood sample necessitating another blood test? They warned us that the chances of this increased the closer to 10 weeks you were, with 10 weeks being the absolute minimum term a mother could be at before the NIPT is conducted. Any further test would of course be free of charge of. It would mean having to wait all over again though. Fingers crossed you get your results by Wednesday and that those results are everything you are praying for.

Our downs test came back as 1:21, mainly due to the NT measurement which was 3.3mm, did the NIPT and came back 1:5500. Edwards and Patau were always very low risk. 20 week scan went perfectly and now 25 weeks with my healthy boy!
When we had our 12 week post-scan meeting, the midwifes do act like it is a done deal and it can only go one way (I suppose they have to to try and avoid giving you false hope) but it is the most draining experience ever. Wishing you all the best!

I was in this exact position this time last year, except my results were a 1:6 chance. I had a harmony test, which came back inconclusive! I refused any invasive procedures and prepared myself for the ds diagnosis at birth. I now have a little 7 month old baby girl who does not have ds.

They called today and my girl (they confirmed that) has a 'greater than 99/100 chance' of Edwards T18.
We are devastated. We have been advised to have CVS which I will but almost think what's the point, sorry for the negativity, but now facing the decision of local NHS (I'm terrified that everyone I know who has been near a hospital lately seems to end up with an awful Covid story) or drive 120 mile Monday morning to London the FMC. I am usually an advocate of seeking the best expertise you can but when this all seems so pointless I just don't know.
I'm really sorry to post such a negative message.