High risk of Downs

[KMinty]

Hi,

I've had my combined screening test today (13 weeks 5 days). I had good bloods but on the scan the baby has a tricuspid regurgitation or leaky heart valve. Everything else was good, although the nuchal fold was on the highside(2.7mm). The heart problem took the risk of downs syndrome up to 1 in 100. They tried to do CVS but the placenta is at the back of the womb and they couldn't get to it. I'm having to wait for amnio in 10 days, and am terrified.

Anyone got any advice, had a similar experience?

[lljkk]

No relevant personal experience but sorry to hear that you're going thru this. It sounds like you still have a 99% chance of no Downs. Those would be considered pretty darn good odds in most realms of life.

Good luck.

[helenlouisey]

Hi KMinty, I'm so sorry to hear you're going through this. I had a similar experience but my risk of Downs and Edwards Syndrome was given as 1:2 for both. Unfortunately following a CVS it was confirmed as Edwards Syndrome.

I had to wait 4 days after my initial scan to have the CVS and then a further 2 days for the results and I have to say the waiting was very difficult. Although your risk factor is classified as high risk, remember that 99 out of 100 women in your shoes will have a perfectly healthy baby, so try to cling on to that while you wait.

Did they say how long the results of the amnio would take to come through once it has been done? Some hospitals and if you get it done privately, it can be fast tracked to 2 days rather than 2 weeks.

Good luck and try and keep as busy as you can over the next 10 days, I took quite a bit of time off work as just found it impossible to concentrate and the time went so slowly when I was there. Maybe you could take some time off and spend it with family and friends?

Helenlouisey

[bezzyk]

My daughter was 1 in 85 chance of Down's after triple blood test. Had the amnio and all was fine. She now almost 3 years old, very active and intelligent little girl.

Waiting is horrendous, but what lljkk says is very relevant. 99% chance that everything is fine. And as I kept saying when I was going through this, 'I wouldn't bet on that horse'

Good luck
Bkx

[KMinty]

Thanks so much for the support. It was just such a shock. We were really exited at 9am waiting for the scan, then the day just sort of spiralled downwards.

I have a 15 month old so I'm trying to keep positive for him and remember how blessed I am.

I'm in London, with UCH, so they did everything today, and they said the results from the amnio would take 2 days.

DH says the statistics are on our side, but I can't stop thinking the worst case scenario.

I have quite a high pressure job, and have already had to cancel a big job on the only day the hospital could do the amnio, so that just adds to the stress I think. I have probably the biggest week in my career so far next week and am terrified I won't be able to concentrate. I think I might just have to take the keep busy advice and throw myself into work.

God, the what ifs are the worst. I haven't felt like this since baby no 1 was really sick his first 2 weeks.

[fifitot]

How old are you? Your age is the starting point for the risk assessment. You probably know this.

[busierbee]

Kminty
I have also had high risks but mine were much much higher - 1 in 7 and 1 in 2. If it is any comfort, in my extensive analysis of testing and abnormalities, the majority of cases of DS in particular are found in women whose odds are 1 in ten or higher. Having said that I also know many women whose odds have been one in ten and have gone on to have healthy babies.
If your bloods are good, which they are, mine were not, and the nasal bone is present, and your nuchal measurement good (which it is) then you are in an even stronger position.
I am no expert but leaky heart valves do mend themselves sometimes and if not many are able to be dealt with very easily after birth.
If you have the strength then throwing yourself int work may be just the ticket.
I was also at UCH - you could not choose a better hospital.
Good luck and do ask any questions - someone here will have an answer.
Bee xxxx

[KMinty]

I'm 33. The hospital said that it's solely the heart defect that put my stats up.

The nose is good, the nuchal was at the high end but within normal range (2.7, but so was other baby) and the other test (something to do with the liver and blood-flow) was fine too.

Apparently one blood was excellent, the other not, but combined the numbers came out ok.

I could never imagine how this felt until now, so it's really good to have someone to splurge to who understands. DH being a treasure but you you should have seen his face when they got the speculum out... the CVS was a complete disaster because I have a tilted womb and in fact was absolute agony. I really felt for him trying to soothe me when I was writhing.

Thank you so much for your support.

Again.

[fifitot]

Good luck. It's a horrible time isn't it?

[Cicatrice]

I had 1:115 and had amnio. All was well. But it was a terrible terrible weekend till the results came back.

Amnio wasn't as bad as I had expected, though it freeakd DH out big time.

I hope everything goes well for you.

[mydoorisalwaysopen]

Risk for DS1 was given as 1:8. Had a CVS (vaginally as the baby was in the way of the placenta). Waited two days for the results - which were fine. I remember very well the worry. I hope everything works out for you.

[KMinty]

Thanks all,

It's the waiting. That's why when they couldn't get to the placenta internally I still wanted to stay to see if they could get in from my tummy, though DH thought I'd had enough. Only 9 days until the amnio now and another couple after that for results.

Feel very numb. Trying not to let my little one see or sense it, but very hard.

[eidsvold]

Yes - told if my child was born without ds it would be incredibly rare. They detected the heart defect at 20 weeks pregnant. She was born with ds and after some cardiac surgery is living life to the full. While there is some developmental delay - she participates fully in life - mainstream school where she has friends and a fab time. She is included and feels included. She attends dance classes, swimming, surfing and actually seems to have a better social life than I do.

You may not know this but a raised nuchal fold can actually also be an indicator of a heart defect (amongst other conditions) - on its own that is not related to down syndrome.

If you want some more information - contact the Down Syndrome Association of the UK - they have some very current and balanced information regarding down syndrome. We found the organisation a brilliant place for information.

my dd at 1 yo fabulous pic of dd1

[eidsvold]

sorry forgot to add - she is now 7 1/2

[eidsvold]

UK down syndrome association

[fifitot]

She's a gorgeus little girl.

[KMinty]

She is lovely. I'm glad she's doing well, you must be very proud.

I have a lot of experience of DS, in family and close friends, and know first hand how beautiful everyone is, but also know that the condition affects everyone differently, and that it could mean that I can't even get to term. I'm starting to curse modern medicine.

[KMinty]

I had my amnio on Monday and got the results yesterday. I spent the last 2 weeks worrying over nothing!

Just wanted to say thank you to all of you who offered your support. It really helped in a time of confusion and worry like I've never had before.

xx

[NumptyMum]

I'm so pleased you got good results - waiting for them is so difficult. Hopefully now you can relax and breathe again .

[helenlouisey]

That's great news, relax and enjoy the rest of your pregnancy

[Loulou2008]

Hi KMinty, I wanted to know whether the Tricuspid Regurgitation corrected itself or not. I am currently in the same situation you were in. They told me at the FMC that it could go away by 20 weeks. The CVS turned out fine but I'm worried about the valve.

[eidsvold]

actually I just realised she is 8 1/2 - where did that year go :)