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Pregnancy

Talk about every stage of pregnancy, from early symptoms to preparing for birth.

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

66 replies

needtobeanonforabit · 27/02/2017 16:25

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

OP posts:
SummerHouse · 04/03/2017 08:06

I got an indicator for downs at 20 week scan called echogenic bowel plus very small measurements. Didn't have amnio and spend the next five months preparing for a baby with downs. My mantra was "I will make this ok". I also owed my sanity to an amazing pregnancy yoga class. I was mentally stronger than I have ever been and ended up with a drug free birth.

Guess what. He didn't have downs.

Weirdly the next 8 months I fell apart a little. Very anxious possibly PND just waiting for whatever was wrong to show itself. He is 4 now and perfect, brilliant, clever, kind little boy.

But I still remember on my knees crying on the kitchen floor offering up deals to god. Horrible time. But i would do it all again.

Good luck op. I just know you are going to have a perfect baby. Flowers

HN42 · 04/03/2017 12:14

My NT was 3mm on one of my twins and was the only basis I was given for giving me a risk of 1 in 85. Harmony test came back with 1 in 10000 risk for both twins so all turned out fine in the end.

Try to think positive over the weekend, I had to wait about 10 days for my results and was the most excruciatingly long 10 days I've ever known but distraction and playing upbeat music helped give me a bit more of a positive mindset in those last few days of waiting for results.

needtobeanonforabit · 05/03/2017 22:53

Yes, I've spent a lot of time doing the same summerhouse Blush.

SarahOoh that is exactly how understand it from the hospital too.

My HCG was double the normal level, this combined with the lower pap-a result and the 3mm nucal measurement is apparently where they have calculated my risk from, as midwife says these are all indicative of Down's?

No other contributing factors, 32yo with a BMI of 22 so apparently neither of these were also factors.

Hopefully tomorrow will bring with it some results.

In the meantime, thank you for the link on DS, off to have a look now. I think a lot of it is the fear of the unknown.

OP posts:
Flowerydems · 05/03/2017 23:05

Sorry was reading your post and all my thoughts are with you but we were given good odds with the nuchal but in the end our baby turned out to have a rare chromosomal abnormality anyway.

If you get offered have a good think about amnio. I declined but then ds went through a whole year of blood tests to find the root of the cause. Would have rather I had that than him suffering.

Whatever happens remember it's not the end of the world. You sound like you're ready for anything but these things can happen at any age or at any time. Enjoy the rest of the pregnancy regardless, I felt so on edge/anxious that I didn't and I regret it every day. Very few things are untreatable these days and the ones that are are well known. I wish you well

needtobeanonforabit · 07/03/2017 18:53

Just thought I would update this thread to say that we had the most wonderful news today - Harmony test came back as 99.99% certainty of no abnormalities (as close as they will say to negative) 🎉 We've decided we're happy with that and aren't going to risk baby with an amnio/CVS to confirm as they seem pretty sure.

They also told us that we are having a baby GIRL! 💜❤️💜

Thank you to everyone for their support, it has meant a great deal to me xx

OP posts:
danTDM · 07/03/2017 19:10

Stranger here shedding a tear. I am so happy for you Flowers

SorrelSoup · 07/03/2017 19:14

I've just found your thread and was hoping for a positive ending! Great news!

SallyGinnamon · 07/03/2017 19:17

Delighted for you! Wine(champagne!)

TheLegendOfBeans · 07/03/2017 19:24

This thread has made me well up a bit.

And congrats on Team Pink xx

Youallpissmeoff · 07/03/2017 20:29

Mine was only from nuchal. The measurement was 3.7mm and I had a 1:120 risk.

I went ahead with a CVS and heart scan. DC didn't have DS but he does have complex SN which obv werent picked up.

It is scary OP. Look after yourself xx

Youallpissmeoff · 07/03/2017 20:38

Sorry. My post was s bit late!
Marvellous news anyway. I hope the rest of your pg is more relaxing xxx

LastMangoInPeckham · 07/03/2017 21:37

Lovely news

Enjoy the rest of your pregnancy xx

RMC123 · 07/03/2017 22:10

Fab news. So remember that relief when you find out everything is ok,having gone through the very same thing 16 years ago. Enjoy your pregnancy x

Applebite · 07/03/2017 22:17

Flowers Smile

JonesyAndTheSalad · 08/03/2017 03:03

Flowers That's absolutely lovely news OP! Congratulations! Grin

primaryboodle · 08/03/2017 07:42

Fantastic so pleased for you :) congratulations! Go and spread the baby news :)

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