My feed
Premium

Please
or
to access all these features

Get updates on how your baby develops, your body changes, and what you can expect during each week of your pregnancy by signing up to the Mumsnet Pregnancy Newsletters.

Antenatal tests

1 in 25 risk of Downs. Still reeling.

46 replies

adaloveslace · 02/12/2013 04:32

This has been the most surreal, horrible day (just to clarify - I'm in a different time zone which is about 11 hours ahead of the UK).

I am 12+5 days today with a much wanted DC3. This morning, I went for my 12 week scan and NT test, which I have been very anxious about - probably because I'm now 38 and was 30 and 31 when I had the other two. But I can't honestly say I've had any kind of feeling that everything will be okay this time round, like I remember having before.

To start with everything looked great - the baby was bouncing around on the screen, measuring right for dates, and everything was where it should be. The sonographer took the nuchal measurement and it was about 1.7mm, which is great. She took another measurement of 1.9mm I think - again, nothing to worry about.

It was took a while to find the nasal bone because the baby's hands were in front of its face, but eventually it moved, and she said there was a nasal bone there, but that it wasn't very developed. She really didn't seem concerned. I went off to the loo, and DH asked her about it again, and she said as long as it's there that's the main thing.

We went into a consultation with the doctor then, and that's when things started to get surreal. He had my bloods back and said they were all more or less normal. (One of them, I think it was the free beta HCG, was marginally low, but he said it was close enough.) But then he said that he had to mark the nasal bone as absent because it was too underdeveloped, and that as a result my combined risk of Downs - when my age was taken into account - was coming back as 1 in 25, while the risk of Trisomy 18 (Edwards) was 1 in 370.

If he had marked the nasal bone as present, my combined risk would have been 1 in 2,000ish (after I saw the 1 in 25 everything else went blank, but I think that's what he said.)

He presented us with the options - cvs, amnio or Harmony. I couldn't have the amnio until 16 weeks, the Harmony results would take 2 weeks and would still only be diagnostic, meaning that he would probably have recommended further testing if it had been positive, but he could do the cvs then and there, and we'd have the result in 2 days. We didn't even think about it for long - he said the risk of a miscarriage was 1 in 400 on average, but that he'd never had anyone miscarry. I just felt the need to know. I had and still have no idea what we'll do if we get a positive result for Downs but my anxiety levels were going through the roof and I wanted it over with.

The cvs was okay - it wasn't pleasant, but it was quick. Now we've just got to wait for the results, which should be in two days. I don't know what I'm looking for - maybe just some handholding or to hear if anyone else has been through this. It has helped to write it all down. I feel really numb - it all happened so fast, I keep thinking this was a dream and I'll wake up in a minute.

OP posts:
Report
madwomanintheatt1c · 02/12/2013 04:38

Two days is very fast, but it will feel endless, I'm sure.

Additional needs always sound scary. Fingers crossed you will get the result you want, but if not, there are many lovely mnetters with children with Down's syndrome on the sn board, so you have a ready source of support (you could search now, if you want to).

I have two NT children, and my third has a disability due to birth injury. Cerebral palsy isn't something that can be picked up in ante-natal testing. Smile

Sending you strength and calm whilst you wait. Be kind to yourself xx

Report
adaloveslace · 02/12/2013 05:12

Thank you so much madwoman. Sometimes it feels lonely being in the wrong hemisphere, so it's nice to know someone's out there. I really appreciate you replying and sending me much needed strength and calm.

What is NT, if you don't mind me asking? (Guessing neurotypical, but I may be way off?)

I have a very good friend with a gorgeous son who has the extra chromosome, and DH and I both feel we could really cope with a child with DS. It's the what happens when they grow up, especially given that we're going to be older parents, stuff that I think frightens us. In the last few years, we both have experience of children with varying degrees of special needs on both sides of our families (including one with a very mild form of cp actually, who is doing so much better than anyone anticipated - hope yours is too Smile) and in a way, I think I'm more frightened because of that. All that lovely, twinkly naivety that I had with my first is gone and all I can see are the curveballs life throws at you.

We are already at increased risk of this baby having IUGR and/or being born prematurely, so it's the idea of having a baby with DS and the added complication of a premature birth and/or all the other things that could go wrong that's going round and round in my head.

I think I need a good cry but my DCs are home from school now so I'm madly biting my lip.

OP posts:
Report
madwomanintheatt1c · 02/12/2013 05:36

Yes, neurotypical.

Hang on in there until they are in bed, and let it go for a while. Life is full of the unknown, and a whole whack of it is pretty scary. (()) and hey, if you crack, no harm done. Will dh be home soon? Maybe he can take over and get them sorted whilst you go and hide for a bit?

Are the other dcs old enough to understand that you are worried? Or will it freak them out that there is something going on?

Dd2 is doing very well, thanks - she is a star. Smile

Report
adaloveslace · 02/12/2013 05:45

So glad to hear that about your DD. The little girl in our family is wonderful too - indefatigable and always happy.

DH stayed home to work today after our scary morning and has taken DCs off swimming, so I'm alone for now. They're only 7 and 5, and have no idea I'm pregnant at all - I've invented a bad back, which has accounted nicely for all the lying around on the couch I've been doing.

OP posts:
Report
Needanewsofa · 02/12/2013 05:48

Just posting to hand hold - I am in the uk, but stupid new dog has woken me yet again . . . . Grrrrrr!!

We had a 1 in 4 probability of Edwards at the 12 week scan along with a severe birth defect diagnosis. We were given Sands leaflets and told to think seriously about stopping the pregnancy. So I know how shattered your world is feeling right now.

Remember - with all these statistics they forget to say that's a 3 in 4 probability (or 24 in 25 for you) that all is well, and that is far more positive and reassuring.

For us, our ds is now 5 years old. Yes, he did have a serious birth defect but is very well and happy after a 2 week neonate stay. No long term implications for him. And if I hadn't been strong enough and gone ahead with their suggestion of stopping it without even having tests then we wouldn't have a family at all and we would be looking at yet another horrific childless Christmas.

Take comfort from those around you and remain focused on the positive probability until those results come in. Then you can make informed decisions. Hugs to you x x x

Report
madwomanintheatt1c · 02/12/2013 05:49

That's good, you need some space and you have an excuse you can use if it all gets too much. Once they are in bed you can have a cuddle and a weep if you need to. I'm sure he's at sixes and sevens too, but probably best keeping busy!

Will you have to go back for the results, or will they call you?

Report
Aeroaddict · 02/12/2013 06:10

It sounds to me like they are just being super cautious. I'm guessing they have to put down the nasal bone as either there or not there when working out the figures, and because it is not very developed they have treated you as if it was not there. You know from what you were told in the scan, that it is there, so I'd imagine in reality your odds are much nearer to 1 in 2000. It must be horribly worrying for you, but it sounds like the odds are very much against there actually being a problem. I hope the next couple of days pass quickly for you, and the results are reassuring!

Report
adaloveslace · 02/12/2013 07:02

Gosh you're all so kind. It really means a lot to have this support. I can't talk to anyone but DH about this, and he's playing a blinder keeping the kids busy and distracted, and trying not to get upset, while I'm hiding out in my room "working". I suspect we will have a cry later madwoman. He is such a rock.

Needanewsofa - thanks for the handhold. I hope the puppy lets you get some sleep. So happy to hear that everything worked out so well for your DS. Is his birth defect no longer an issue at all? That's amazing - must have been horrific at the time though.

aeroaddict thanks so much for the sound reassurance. I'm really hoping you're right. DH says (by then I was in such shock I can't really remember anything) that the sonographer seemed really taken aback and flustered when we went back into her for the cvs, whereas she had been reassuring initially, even about the nasal bone. They don't measure it either, so it's very much an impressionistic thing. The dropdown menu which calculates the results (it really seems Orwellian and brutal to put a child's future in the hands of a computer) only allows for the nasal bone to be 'absent', 'present' or something like 'undetectable', which means the hands are in the way or whatever. So his only option was to put it down as absent, even though it was there but small. It's not much, but I'm clinging onto that.

OP posts:
Report
Needanewsofa · 02/12/2013 08:24

Hello Ada

Yes, as amazing as it sounds, he had something called an exomphalos - don't google it as there are very scary photos. His tummy wall didn't form around his umbilical cord, so his internal organs were in a transparent sac about the size of his head. But he was operated on the day after birth, and home after 13 nights in NICU - life became normal again then - well, as normal as it ever will be with kids! Wink

It sounds like your husband is kind, loving and supportive, just like mine is. The 2 of you will make sure you both get through these next few hours together, and then you'll look back on this with relief, knowing all is well. I agree with Aero - it really truly sounds like they're being ultra cautious.

Ps New dog is lovely, but she's pushing her luck at 5:00am! Wink

Report
diege · 02/12/2013 13:51

Ada so sorry you're having all this worry Sad. Something I remember from my scan at the Fetal medicine Centre in Harley street might help re: nasal bone. They see its presence as of course reassuring, but if it is there but measuring less than it 'should', your risk does increase a little but nowhere near to the extent of it being absent. From memory I think it drops to the extent your risk would be closer to 1 in 1000, so sort of half between 'good' and 'bad'. Hope this makes sense!

Report
diege · 02/12/2013 13:53

To clarify, they do indeed factor in 'there but not fully developed' on their computer programme, hence giving a 'medium' level risk to what was seen at your scan (and not 'high' as your programme gave you).

Report
SeeYouNT · 02/12/2013 13:59

oh god how scary

no real advice i am afraid but just want to say i have everything crossed your amnio results come back ok

hugs x

Report
mellicauli · 02/12/2013 14:02

I know it is all really worrying but I think you are looking at the numbers wrongly. There is a 96% chance that your child doesn't have Downs. If you put 100 pieces of paper in a hat, 4 with an x in - how would you rate your chances of pulling out an x? Low, I would have thought.

Report
Beckamaw · 02/12/2013 21:41

I know exactly how this feels, and I'm holding your hand here.
We had a 1:12 with our DD. I was 38 too. NT was 3.5mm, and they took us directly to a side room. Hmm
We opted for amnio, which was harrowing enough. Then the results were a day late, and nobody had the courtesy to call us at all.
I was a blubbing mess. They actually even asked me to keep Friday morning free to discuss 'termination options'. The fuckers!
Anyhow, amnio was clear. So they referred us to Oxford for a heart scan.
That was clear too!

DD is now 20 months and a gorgeous little ball of fun. No idea why the results were wonky, but she's entirely NT.
Smile

I won't say 'don't panic', because you'll stress until the results are in. Anyone would.
Just try to relax and focus on the positives.
Before long, you'll have another little ball of fun around the place, and all this will seem like a bad dream.

Report
mrsdoylesteapot · 02/12/2013 21:52

I went through this with DS2, we were told 1 in 11 chance of DS. We went for the amnio because I couldn't face not knowing for the whole pregnancy. Those 2 days waiting were the worst days of my life. As you said, it was the worry of what would happen as he was older that was on my mind. As it happens he was ok, but I will never ever forgot those two days, so I am also holding your hand. It's awful, there's nothing you can do but wait it out, but it will pass.

Report
SaggyOldClothCatPuss · 02/12/2013 22:46

Im 3 months ahead of you and Ive been through this. You've had the CVS which means that you just have 2 days to wait, that's good, I had 10 days to wait for CVS followed by the wait for results. In the grand scheme of things, the waiting is hell, but those days pass. Keep as busy as you can.
I was in total shock which I guess is normal, and nothing really helps, everyone says "that's an x% chance, those odds are still good, most people have great results", but you still worry.
Our initial odds were 1 in 5, upped to 1 in 3 after the CVS ultrasound, and the final results were positive for Down's.
We were totally devastated for a while, but, in the event, for us, it does get better. She's still our child, and really, prospects for people with DS are great nowadays. And there are many many worse things which could be wrong. Initially, everyone says "what about when you are old/die?" and EVERYONE thinks they are being helpful and original but personally, the future is the future. I have 2 older DCs. Anything could have happened to them in their lives, anything could happen, 30/40 years in the future is far to far to think about for me.
Im going by my experiences with the other 2, and taking life in bite sized pieces. Now to delivery, then on to about 6mo when she will need heart surgery. That's enough to be worrying about for now. Beyond that, Ill worry about later.
I really hope you get the result you want, but if you don't, Im here holding your hand. xx take care. xx

Report
adaloveslace · 03/12/2013 03:26

You're all so unbelievably kind, I'm a blubbering mess. I managed not to cry at all yesterday during the consultation or the cvs, or the awful silent drive home or the long afternoon and evening, and here I am bawling my eyes out because of the kindness of some people who chances are I will never meet. Thank you all so much. But I have to go to collect my kids from school in 50 minutes so please stop now! (snot-covered joking face)

I want to know as soon as possible but I'm terrified of the hospital calling with the results later today or tomorrow afternoon when I'm on my own with the DCs. My little boy, who is only 5, seemed really worried about me yesterday, even though I thought I was managing to put a very brave face on.

Saggy, I read your story when I was preparing myself for the NT - I think I had some kind of uneasy feeling that something like this might happen, though it was probably only based on my age and hopefully not on intuition. I was really struck by how resilient you are and how quickly you were able to focus on your DD and the fact that, no matter what her challenges, she is still your DD. I am trying very hard to feel like that. I have a close friend with a gorgeous, bright son who has DS but I can't seem able to equate what I'm feeling now to him at all.

mrsdoylesteapot, you're right this has to have been one of the worst 24 hours of my life so far. Every minute feels like ten, every half hour feels like half a day. I'm so happy you got good results at the end of it.

Beckamaw, that must all have been terrifying. I'm half hoping to get the results today - the midwife rang earlier and said sometimes they are that quick. I will survive until tomorrow but if it goes into Thursday I don't think I will cope. Enjoy your gorgeous DD. My DCs are keeping me going, as much as it's hard to act normal around them.

The thing that is really worrying me is that I googled 'absent nasal bone' yesterday (I know, I know...Dr Google is not your friend) and it does seem to be regarded as an increasingly significant marker. There weren't many happy outcomes. On the other hand, the sonographer said it was there, just not very developed. diege, I read your post about that as soon as I woke up this morning, and it got me out of bed and able to work for the morning - so thank you.

OP posts:
Report
adaloveslace · 03/12/2013 03:30

(Off to make a model funnel web spider with my seven year old for her school project this afternoon...that should keep my mind busy)

OP posts:
Report
diege · 03/12/2013 09:23

Keep strong ada, we're all here for you Thanks.

Report
SaggyOldClothCatPuss · 03/12/2013 09:48

Ada dont be fooled! it took me some time to calm down, and even now I still have plenty of bad days! I like to think it's quite natural!
Can you have a friend or someone with you tomorrow?

Report
Theas18 · 03/12/2013 09:55

remember.....

1:25 sounds awful but 24:25 chance of not Downs actually is quite positive.

Keep strong and remember this will all be sorted by next week.

What ever the result you have choices. Having a child with Downs is actually a possible choice and there are several posters around for whom this " worst thing ever" has happened and they have a child in their family who is most definitely isn't the "worst thing ever" but an amazing baby/child just as every other child is IYSWIM

Report
adaloveslace · 03/12/2013 10:13

Unfortunately not Saggy - DH has taken too much time off already this week and we've just moved to a new country, so there isn't really anyone I know well enough to talk to about this who could be around. I don't mind being alone when I hear anyway - it's better than being with the kids. It's the other stuff I have to do tomorrow that's currently stressing me. I'm due in DD's class in the morning to help with reading groups and I hadn't wanted to cancel in case the results came today (and all was fine), so I think I'll go and bring my phone and have it on silent. Is that crazy? I also have both DCs Christmas concert tomorrow and DS has a speaking part, so no matter what, I definitely can't miss that. Aargh.

Otherwise, I am feeling quite calm tonight and trying to be optimistic. Thea, my DH keeps saying the same thing about the stats but I can't quite see it in that light. For me, it's either the baby has DS or it doesn't, so it feels (wildly inaccurately) kind of 50-50. All the posts here have really helped though, so thank you all.

OP posts:
Report

Don’t want to miss threads like this?

Weekly

Sign up to our weekly round up and get all the best threads sent straight to your inbox!

Log in to update your newsletter preferences.

You've subscribed!

SaggyOldClothCatPuss · 03/12/2013 10:21

I'd go, but I'd confide in the teacher that you are waiting for some important results so that she knows you might be distracted.

Report
RachelHRD · 03/12/2013 10:35

My DD who is almost 4 had a result of 1:2 for Downs from a very detailed scan - her result from the standard scan had been 1:49. She doesn't have Downs syndrome.

I remember those two days of waiting after the CVS all too well - big hugs xx

Report
CrispyFB · 03/12/2013 14:53

Hoping you get your results sooner rather than later! Even when it's double digit risk, it still knocks you for six because it sounds so much lower than everyone else's ones in the hundreds or thousands. It's hard to remember that actually the odds are pretty good!

I waited it out until 32 weeks (went for a safe amnio at that point) for a 1 in 34. The wait was "interesting". The last few days beforehand were amongst the worst though.

What diege said about the FMC is true. I bet if you had more sophisticated software (sophisticated as in allows for "partial" or whatever) you wouldn't be nearly as terrified right now! Hold onto that thought Smile

Report
Please create an account

To comment on this thread you need to create a Mumsnet account.