Good NT, awful bloods, one soft marker

[Granny07]

Hello everyone - I've started a new thread on this topic as I would be really grateful if anyone out there could please offer some support or reassurance or anecdotal evidence?

First of all, I'm not pregnant myself, just very, very worried about my daughter and her husband and what they are going through. (I've gently suggested they speak to ARC, but at the moment they are just shutting it all off until after amnio next week)

Has anyone else had a similar history (T21 pattern with awful bloods and this specific soft marker, and what was the eventual outcome?)

After a long time of TTC my daughter has had a difficult first pregnancy right from the start - spotting then some horrendous bleeding with clots, through weeks 4 - 8. However, we paid for some private scans at week 8 to assess situation as she couldn't get an NHS scan until next day after a particularly horrendous bleed. At that scan, foetus observed, moving beautifully and heart beat and CRL all ok for gestational age. Also noted was an empty sac sitting in uterus, which also showed some suspicion of a bicornuate uterus (very, very mild). So, just beginning to relax, after 4 weeks of no more bleeding, and her triple screen (at 12 weeks) has been horribly skewed by her bloods and also her age (34). (PAPP-a only 0.3 and HCG 4.8). NT good at 1.00mm. Risk for T21 was 1:15, so of course very upsetting. They didn't have CVS because of raised risk of miscarriage (some clots still there).

So, we arranged another private scan ( at 13+3) to assess soft markers: Nasal bone present, Regurgitation OK. NT ok. (1.4 now) BUT - reverse flow present - definitely, thoroughly checked. Oh dear. Risk of T21 now increased to 1:7, as uterine arteries checked and although one slightly raised, other ok. (So not likely to be placental issue, which is another potential cause of this blood result patterning I believe)

I am just wondering whether anyone else has seen research about why this blood result patterning might have been skewed:
An empty sac = ? vanishing twin (not spotted at NHS 12 week scan, just the private one at 10 weeks)?
Gilbert's Syndrome, which my daughter has, (elevated bilirubin intefering with assay)?
Mostly vegetarian diet intefering with assay?
Presence of blood in uterus?
I had P.E.T with elder daughter (could be familial poor placental function)?

Or are we clutching at straws? The risk is as it is of course - as everyone knows, if you are the 1 in whatever 'x' is, you are still the one - and until amnio next week we will just have to wait. But waiting and wondering is awful. (And I feel so guilty as I suggested the additional private scan as I though it would reduce the risk and help their perception of a better outcome!)

Sorry, I don't have any advice, but the 'antenatal tests and choices' forum on here might have people with more experience. Good luck to all your family.

I don't know about the reverse flow marker, but my blood tests came back with 1:10 risk of Down's, caused mainly by low PAPP-A. I had an amnio at 16 weeks and it came back clear, thank God. One thing: it was an NHS hospital and yet the result came back the very next day, despite me being told it would be 3-5 days. I really hope it turns out ok for your daughter.

Yes, try the Antenatal Tests and Choices section - they are very helpful over there.

Thank you very much everlong - have seen your post on other thread!

And thank you for your good wishes TooImmatureTurtleDoves also - yes, the low PAPP-a is a real contributor, I know. (Did you go on to have a 'normal' pregnancy or did you have any placental issues?)

I can well imagine the relief of getting the clear - brilliant news for you, and so happy that you did, and so many people do, get the all clear. I am hoping that my daughter will follow your experience and get the results back so quickly, whatever the result.

Thought I'd just post again in case anyone picks this thread up. My daughter had her amnio on Tuesday 17th January - and the rapid results were back after 24 hours - chromosomally normal (well, for T21, T18 and T13, so the ones that we were worried about). Wonderful - but how much stress have we gone through?!

Incidentally, the consultant who did amnio said 'well with NT results like that it won't be a Down's'....!!!!

I just wanted to say thank you for posting the update... I am in a similar situation - 14w pregnant with number 4, NT 1.2 but PAPP-A 0.29 and hCG was 2. I am having an amnio in 2 weeks and have tried to keep myself sane with thinking that with a good NT then trisomies are less likely. Like your daughter, I had an empty sac seen at 6w which could account for the high hCG but the sonographer didn't seem to have a good look for it at 12w. Anyway, what I wanted to say was thank you for a little bit of hope.
Suzy x

So pleased that your daughter got the result she hoped for, Granny - like SoozyWoozy I'm really encouraged by these positive outcomes. I hope the rest of the pregnancy is straight-forward and stress-free, it sounds likes she's had her share of worry.
(I am in almost exactly the same position as you, SoozyWoozy - best of luck, pal - I can think of nothing but my upcoming amnio - eek!)

Many hugs and much good luck to both of you (SoozyWoozy and passthebiccies) - my advice is to keep yourselves distracted, big time, however you can - it was the only way our family got through the waiting. (I bought my daughter a Kindle and she engrossed herself in my current favourites - Game of Thrones' series! And my lovely son-in-law took her on lots of little outings when they weren't at work!).

But please update the thread with your experiences as I know it will provide support to others in the same horrible position.

Incidentally, I did loads of research and apparently there are lots of things that can potentially affect the HCG assay - various sorts of antibodies (flu vaccination anyone?), as well as pet / mice antibodies (my daughter's cat frequently brings in dead mice), earlier bleeding, as well as 'vanishing twin', and just personal chemistry.