38 weeks after 1:10 combined test result, suddenly terrified of birth and wishing I had amnio.

[Artichook]

My combined nuchal resulted in a 1:10 risk factor for Downs. This was mainly due to the nuchal measurement as my bloods were good. There were no other soft markers.

Instead of a diagnostic test I opted to have the Harmony test as it was risk free. It gave us a great 1:10,000 result. The private clinic also re-fed the nuchal measurement and got a much better result. We were comforted.

The 20 week scan looked great, no soft markers.

Now I'm 38 weeks and scared of the birth as I keep imagining the moment my baby appears and the doctors having to break it to us that he does have disabilities. I'm having terrible dreams.

I seem to have lost confidence in Harmony, there was a thread on here about some false negatives and that is what started me worrying again.

I'm not sure why I'm posting, I guess I just needed to get this off my chest.

[christinarossetti]

What a difficult situation for you. Would it help to contact your midwife, explain your anxieties and request a scan?

When's your next midwife appointment?

[Artichook]

Thanks for your post Christi. I don't think another scan would tell us a thing at this stage. The 20 week scan was all good and by this point the baby is so squashed I'm not sure what they would be able to see. I just have to sit it out but it is so hard in the middle of the night.

[FattyMcChubster]

If it helps at all, I think if you didn't have this to worry about it would only be something else. At this point the realisation of what is about to happen is so overwhelming. The birth, the baby, the responsibility can all feel so huge.
Is there anyway you can look into a relaxation class or something similar?
Wishing you all the best for you and your family.

[ghislaine]

I know this might sound a bit extreme, but you can still have an amnio at this stage of you really want to know. Obviously you had your reasons for declining it at the time, but those reasons don't bind you for the whole pregnancy. The risk of course is not miscarriage but going into labour prematurely, which presumably wouldn't be too much of a problem at 38 weeks. When I had my second cvs I got the results the very next day.

I decided not to have cvs this (third) pregnancy and had the Harmony test instead. The day before I got the results I read that thread about false negatives over and over. I'm still not entirely convinced I did the right thing by declining cvs but the consultant who counselled me about my choices said that of the 6-7000 women who've had Harmony so far in the UK, and of those who got a clear result, none of them has had a chromosomal abnormality come up at the anomaly scan.

[Artichook]

That statistic is really comforting ghislaine. Can I ask whether your consultant was private or NHS? My private consultant was so positive about Harmony but the NHS consultant was much more sceptical. I can't decide whether he had really reason to be sceptical or just had to be because the NHS does not offer the test.

[ghislaine]

I saw the same consultant on the NHS and privately. I have had a previous termination for Down syndrome, so in this pregnancy I first had a private consultation with this consultant at around 9 weeks (who'd been involved in both my previous affected pregnancy and my last clear one) to ask about the Harmony test vs cvs. He was very enthusiastic about Harmony, told me he knows the people at Ariosa, and, when I asked him then about false negatives, said that they cannot give a 100% certainty guarantee to the results due to some regulatory issues. He was the one that told me the NHS is starting clinical trials of Harmony later in the year. He also said that for T13 and T18, these are usually apparent at the screening scan because they present with characteristic physical abnormalities (bearing in mind that he works at a massive research-based teaching hospital - other hospitals might not have people who have the same expertise or experience with fetal abnormalities).

Then I saw him again on the NHS when I had my actual scan and we revisited the whole conversation again. This time I felt less inclined to go for cvs as my scan was clear and my bloods were ok and it's at that point he made the comment about detection at anomaly scans. So I had the blood part of the Harmony test that afternoon at his private clinic. They used my NHS scan results.

[Roshbegosh]

At 38weeks don't you need to wait and see. What would you do about a result confirming Downs at this stage anyway?
You have had good advice and reassurance along the way. They aren't supposed to look for soft markers now at the 20 week scan but should do more thorough assessment for structural abnormalities eg heart.

[ghislaine]

I don't presume to speak for artichook, but I would imagine that if she found out before the birth that her baby did have DS, it would give her and her family a little time to prepare for that, and to bring an end to the position she's currently in where she keeps "imagining the moment my baby appears and the doctors having to break it to us that he does have disabilities. I'm having terrible dreams."

Best of luck to you artichook.