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Down syndrome test: Nasal bone

4 replies

SKP86 · 29/05/2020 11:14

Hi all,

I'm new on this forum, and thought I'd ask if anyone can shed any light on my issue or if anyone has been through this too.

I'm 21 weeks with baby number 2. I had the combined test for down syndrome at 12/13 weeks and came back as low risk at 1:7000 (I'm 33, healthy, non smoker etc btw).

I had my 20 week scan last week and they couldn't see the nasal bone, and an absent nasal bone means higher risk for downs. I had a private scan done the next day as I was so worried, and the sonographer reckoned that she could see it, though not clearly.

I was called back to get a scan done again at the hospital with a consultant, and she couldn't see the nasal bone either. Obviously I was so worried at this point. I was told to walk around so the baby moved position, came back and a doctor was now there. They did the scan again, and looked at the baby's face from the top view, and then said they could see the bone, but the nasal bones were widely spaced and short which is why they looked absent The doctor said this increased my chances of down to around 1:700, but I was still classified as low risk. I had the NIPT blood test for confirmation and am anxiously awaiting the results.

I am of indian origin.

Does anyone at all have any opinions of this?? I am so worried, and really need peace of mind.

Many thanks in advance xx

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SKP86 · 29/05/2020 11:15

Sorry - forgot to add that everything else on the baby looked normal and all measurements were fine.

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TinklyLittleLaugh · 29/05/2020 11:17

Presumably your hospital also offers actual definitive testing, though not without risk. Would that be an option for you?

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SKP86 · 29/05/2020 11:21

@TinklyLittleLaugh

Presumably your hospital also offers actual definitive testing, though not without risk. Would that be an option for you?

Yes, I had the NIPT harmony blood test which is very accurate. Am awaiting the result but just so worried.

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TinklyLittleLaugh · 29/05/2020 13:11

Yes its very stress I know. I had a high score on the blood test with my youngest child and I was 41. It was a very stress time for us (moving house etc) and I was convinced I would lose the baby if I had an amnio.

A very kind doctor spent a lot of time scanning us and concluded there were no markers. But I felt so stressed for the rest of my pregnancy; I don't think I even slept.

In retrospect I should have just had the test because I think we would have struggled with a child with Down. At the time though, all my protective instincts just kicked in.

Wishing you all the best.