1/15 downs risk based on bloods, all positive stories welcome

[grobagsforever]

Am in shock. Scan yesterday for DC2. Nuchal of 2.2 so ok. But HCG was 3.6 MoM and Pappa A 0.25 which lead to risk of 1/15. I am 33. I n so frightened as bloods were normal with my DD so it's not like I'm just one of those people with crazy bloods. Was sent to FMC for CVS same day and now face 3 or 5 day wait. All positive stories welcome please, especially anyone who had this with DC2. No soft markers seen, I think we have a nasal bone.

Try not to panic. Friend had 1:12 risk and all was ok. I had 1:2500 risk with my dd and around 1:200 with my ds, and panicked. But amnio showed all was ok. Try to fill the waiting time with lovely things. Even 1:15 means there is so much more chance that your baby is fine, and the nasal bone and nuchal measurement are also really positive. I remember doing all sorts of searching at the time and reading that risk levels are really flawed and that you're better focusing on nuchal measurement/ soft markers etc. Good luck.

Thank you black daisies. Trying to pull myself together as we have house guests coming soon. Such a dark time.

I know exactly how you're feeling. I'm 25 and am expecting my first baby in May. My OH and I went for our 12 week scan, all looked great no soft markers or anything. Nuchal measurement was 1.5 and nasal bone was there. Got my blood results back and had a 1 in 5 risk!! My bloods were crazy (hcg 4.4 papp-a 0.12) which is why we got such a high risk.

I had the CVS done 2 days later which was the Wednesday and waited the longest 48 hours to get the results on the Friday. Thankfully everything was clear for the main 3 and we just needed to wait on the final breakdown in 2 weeks. Again the longest 2 weeks you can imagine!

Everything came back absolutely fine and we found out we are expecting a baby girl :). Had my 20 week scan last week and everything is looking great so far!

I'll say don't worry but I know what I was like when we were waiting. As black daisies said, try to fill with your time with other lovely things :)

Good luck!

I'd also say, stay away from Google!!! I found the most helpful information came from people who had actually experienced it which was right here on MN :)

I had something a bit like this.

First child only offered nuchal, normal. Second time got offered nuchal and bloods, both normal, risk somewhere in the mid 1000s.

This time, HCG was through the roof. Over 4MoM. Nuchal similar to yours. Papp-A was actually slightly high. Gave me a 1/100 risk.

So, like you, I've had normal bloods before and crazy ones this time (though only on one marker).

I was so far along by the time they notified me that I had amnio straight away. All is fine. Am 24 weeks now.

HTH a bit. It's a tough wait.

Thank you so much for adding your stories peguin and immac, they are very comforting. just seen new year in and hoping so much it brings good news. I think I will always remember this new year whatever happens.

First two DC fine, but didn't do bloodwork.

DC3 was 1 in 34 thanks to PAPP-A of 0.21MoM and 1.89MoM bHCG. He has typical chromosomes after I waited it out for a late "safe" amnio at 32 weeks. I was 34.

This DC, I'm 37 now, was 1 in 5 thanks almost entirely to the bloodwork, although the nuchal was borderline high (but bloodwork only would have been 1 in 16) Normal PAPP-A, but 5.43MoM for the bHCG. FMC say the high bHCG is most probably due to the bleeding I had. According to Harmony she has typical chromosomes and all the scans have checked out so far (am now 28ish weeks)

One thing I would suggest if your midwife/consultant hasn't already is to make sure you get a growth scan at 28-32 weeks as low PAPP-A and high bHCG can be indicative of potential placenta issues.. rare, but a higher risk than usual. So long as you have the scan, if there are any issues they can consider early delivery, so the overall long term risk to the baby is low. But not having that scan and there is an issue could potentially lead to problems.

Hang on to the fact your baby is 85% likely to have typical chromosomes! And from my experience of hanging around on forums like these (and over on Babycentre where there is quite a high traffic one devoted to amnios etc) that it was very rare indeed for a "bloods only" high risk screening to result in a baby with non typical chromosomes. Usually there was something else seen on the scan, or a noticeably thickened nuchal fold.

Good luck with the wait and your result!

I know how you feel grobags and it's awful. There's nothing anyone can say until you get the results of the cvs that will really help, but I took comfort in the positive stories there. A lot of people do seem to get high risk results based on their bloodwork, especially if they've had bleeding in early pregnancy.

I had a 1 in 25 risk of Downs for my much wanted DC3 a few weeks back - based on an underdeveloped nasal bone and despite normal nuchal and bloods - and had the CVS the same day.

All the results came back normal but it was the toughest, loneliest 48 hours of my life. I know what you're going through right now but all I can promise is that it will be more bearable once you know. This too will pass.

Thank you crispy and ada lovelace for adding your stories, it does help. I will certainly ask for growth scans. This is certainly the darkest time, I really hope we get results Friday and don't have to wait til Monday. I did manage to sleep last night through sheer exhaustion.

It's awful feeling so stressed, I'm so sorry you're going through it. I don't know if this helps at all but I was a 1 in 5 risk and we did have a bit with DS. I would say that it's a totally positive outcome and he is a fantastic addition to our family. He has 2 older siblings. I know you have to make decisions that are right for you but if I can help in any way then please PM me. You may find that if you get a bit more info and if your baby does have DS then it may not be the disaster that you think....

Sorry for typos!!

This may not be very helpful but I have two friends with DC with Down Syndrome. One was diagnosed at birth which was a tremendous shock to his parents who would have terminated. The other was known from the 20 week scan but parents would never have terminated. One is now 3, the other 2, and both are the happiest, most well-adjusted little boys you could hope to meet. Neither has any health problems- no heart issues for example. One is a bit more prone to colds etc than the average child, the other is strong as an ox. Most are meeting all their milestones a little late, but meeting them and doing very well.

Just to say that even if you the 1 in 5 rather than the much more likely 4 in 5, it is not necessarily doom and gloom.

Probably not the type of positive news you're looking for but I agree with duchesse. In the far less likely event that the news is bad, it's far from the end of the world. My youngest ds, aged six, has Down Syndrome and at the moment he's cuddled up beside me eating toast and playing with his Nintendo ds. He has no heart problems, no bowel problems and is basically as healthy as a horse apart from a slight weakness in his chest, which he's growing out of. He started mainstream school this year, and he's doing well. He's a happy, lively, mischievous, very sociable little boy, very like his brothers, and is the heart of our family. Just giving my perspective, and wishing you all the best.

1 in 15 can also be seen as a 93% chance that all is OK.

We had a similar result from the bloods with DS. I found it reassuring to look at the numbers in this way. It means the same thing but sounds much better and I felt it helped me put the numbers in perspective.

We had a CVS and all was fine. Waiting for the results was awful though, I convinced myself that DS would have had Downs. Sending you ((((((hugs))))))

Thank you everyone. Wishing the weather was bettet so we could get out and distract ourselves!

First boy, all fine.

2nd child 1:71 risk of downs. Nuchal was fine it was the bloods that weren't.

I waited for an amnio because of the slightly less risky procedure. All came back fine and DS2 is now a bouncing 15 month old.

It is a horrible thing to go through. I wish you all the best. Please keep posting on here if we can help distract you.

Thank you not miss. That is reassuring. It has come as such a shock after sailing through everything with DD. Definitely the worse few days of my life. I know DS children can be wonderful but I don't think it's a challenge I'm up to. I think DP is leaning towards keeping the pregnancy in the event of bad news and I'm terrified the decision will pull us apart.

grobag, ultimately it's your body and your decision. I know that the friends who would have terminated have completely changed their minds about termination for abnormalities since having their DS, and I suspect that without the religious considerations for the other friend, she would have had a termination due to the make-up of her family (she is also caring for her DM who has Alzheimer's and it's very very hard work for her).

I know what you mean about the shock. I was totally expecting the results to come back as normal and I think I cried down the phone at the midwife who called me to say they weren't.

I know it's easier said than done, but please try not to think about the consequences until you have the results, you could be spending an awful lot of energy worrying about nothing.

I had a tri test early in my second pregnancy which came back with a one in five possibility of Down's syndrome. It was a real shock, as No issues raised with DD1 and I was just in the middle of separating from exP. I spent a lot of time thinking over the choices (it seemed at the time that 1/5 equalled certainty) but decided that baby and I would hang in there regardless. She's 7 now, and fine- love her to bits.

You're right not miss but I can't really think about anything else. Thank you for story mirivy.

I know grobags, I said 'try'! Please just look after yourself and the baby as best you can whilst you're 'in limbo' (I use the term as that's how I felt when I was in your position).

I would agree. Do try. This pregnancy was unplanned (obviously we decided to go ahead given my post above) and what I found was that facing the reality of an unplanned pregnancy was totally different to how in the abstract I might have responded. So with the amnio I really tried to consciously block out the thinking and think "I won't know unless it happens".

Be gentle on yourself and lots of distraction.

Hi, sorry to read you are going through this, I was in a very similar position in 2010. DS1 was 1:8000 risk but when pregnant with DS2 I got a 1:15 risk. My Papp-a was 0.39 MoM and bHCG was 1.65 MoM, nuchal 2.6 and I was 35.

I had a CVS and got the all clear. He's fast asleep upstairs as I type this.

It's such a horrible time, I remember it well. There's only a 7% chance of Down syndrome, not odds you'd be likely to bet on. x

Grobags, just thought of something I wanted to add. The consultant who counselled us about the risks said that, in his experience, it's people with a 1 in 2 result and abnormal results in their bloodwork, nuchal and soft markers who tend to get a positive result for Downs. He was confident we'd be fine with a 1 in 25. I know that sounds sort of axiomatic - 24 times in 25 he'd have been right in our case but there's still the fear that you could be the 1 in 25 - but I DID find it slightly comforting.

As other posters have said, a diagnosis of DS is not necessarily the worst thing - I have a close friend with a son who has the extra chromosome and I am mad about him. But even so, I found it difficult to relate my feelings about my baby to him, so I know how hard it is. Only you can make the right decision for you.