Please or to access all these features

Antenatal tests

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.

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:
MrsT2007 · 03/12/2013 16:57

I've been there too; I waited 5 days for my CVS results. It felt like a week of my life had just been removed. Such an odd, unnerving time.

Really hope all is ok. We knew things were 'wrong' as when we went for CVS the detailed scan showed serious heart & bowel problems, and soft markers for Downs. The consultant did prepare us for the fact our baby had serious health problems and when the results came back we did opt for TFMR.

The waiting is the worst bit. Big hugs to you xxx

adaloveslace · 04/12/2013 03:40

Thank you all so much for the support and kindness and propping up over the last two days. I am so cheered for the state of humanity when perfect strangers can rally round like this.

I just wanted to share the brilliant news that I finally just got the FISH cvs results (after calling and begging) and no abnormalities were found! All the tears I've been holding in since Monday came out and I sobbed and sobbed down the phone to the austere sounding lady who gave me the results. I also found out we are having a beautiful little girl Envy

I'm so conscious of how close I came to a different result and I feel like these last two days have changed my attitude on so many things forever.

Saggy, thanks in particular for sharing your story and all the handholding, and I'll continue following your journey and that of your beautiful daughter. Thanks

MrsT2007, DH and I had genuinely no idea what we'd do if the results were bad. It's such an impossible, heartbreaking situation, there's no right or wrong answer. All you can do is try to decide on what is the best option for you and your family, I think.

Thanks again Crispy, Rachel and everyone who shared their story. Hope this thread turns up some day for someone else in a similar position and reassures them that an absent/underdeveloped nasal bone is not necessarily as definite a marker as it can seem.

Off to my little ones' Christmas concert now - can't think of a nicer way to celebrate. Smile

OP posts:
Thumbwitch · 04/12/2013 04:41

Just read this through, Ada - so pleased that you got the all clear.
If you don't mind saying, where have you moved to? I am in NSW, Australia, so if you're anywhere near, PM me if you don't want to say it on open board.
We have a reasonably active MN meet up group, so if you need to meet up with some more expats, here we are! Just let me know. And if you're not in Aus, no worries.

Saggy - didn't know that about your own baby but you seem to be doing very well on the acceptance front so I won't commiserate as that would possibly be rude. Much love anyway. x

madwomanintheatt1c · 04/12/2013 05:22

That's great news Ada. Have a merry Christmas x

And much love to you saggy. Keep an eye out for that stuff creeping on you though - it's quite common to manage really well and then a few years down the road find a bump or two. Hugs to you and yours x

SaggyOldClothCatPuss · 04/12/2013 08:39

Don't worry. I'm old and cynical really. I'm certain life has much more shit to throw at me! Confused Wink

SaggyOldClothCatPuss · 04/12/2013 08:40

Ada, thats the best news I've heard all day. x Smile Smile Smile Smile Smile Smile

Dillydollydaydream · 04/12/2013 08:47

Great news! Enjoy your day

Perspective21 · 04/12/2013 08:59

Ada, so pleased for you, you can relax a bit now xx

Saggy, so pleased to see you there, just to say, this morning my son is not at nursery, we've seen the big girls off to school...he's in his robot PJS looking adorable as ever, I'm on second coffee of the day, contemplating a little shopping list. Later we will have supermarket cafe lunch as a treat to ourselves. We will bump into some of the same people we see each week, they will chat to him by name and tell him his smiley face has made their day.

So you will have bumps along the way but you will still have completely ordinary and lovely times with your daughter. There's a bit of drama and heartbreak and appointments along the way, but mostly, it's a super ordinary life...and you will feel extraordinarily lucky to have it...I know you will...
Much love for a Merry Christmas xx

Aeroaddict · 04/12/2013 09:29

So pleased to see it was good news! Grin

MrsT2007 · 04/12/2013 09:44

Great news xx

This time last year I was waiting to get to 12 week scan and tests. The wonderful nurses at ante-natal testing pushed and pushed because of my history & we got the all clear on Christmas Eve & I will be forever grateful for that.

Said baby is currently rolling on her play mat.....all the heartache & worry was worth it in the end xxx

womma · 04/12/2013 09:47

I'm a lurker, but had to say what wonderful news Ada! Very pleased indeed for you and your family.

CrispyFB · 04/12/2013 10:04

Awww - I'm so glad you can relax a bit at last and you got the news you were hoping for! Congratulations on your baby girl!!

WifeofGru · 04/12/2013 12:57

Popping over fro the June antenatal boards. Wonderful news Ada
Was thinking of you since Monday.

diege · 04/12/2013 13:04

Great news Ada xx

lostlove · 04/12/2013 13:45

Hurray! Congratulations, ada Flowers

Needanewsofa · 04/12/2013 19:05

Just got in from work and had to check here straight away - been thinking of you for the last few days. Brilliant, fantastic news!!! Now relax and enjoy Christmas x x x

adaloveslace · 05/12/2013 03:05

Thanks again guys! Waves at Gru

I just noticed that my post from the other day somehow has an angry little avatar with a green face at the bit where I said we're having a girl - pretty sure it was a love heart on my phone! Just to clarify, I am feeling anything but angry or green at the prospect of a healthy little girl x

OP posts:
mrsdoylesteapot · 05/12/2013 21:21

What brilliant news xx

adaloveslace · 06/12/2013 04:07

Just another little update to say the full results of the microarray CGH came back today (only five days after cvs) and no abnormalities were detected. It tests for 250 genetic disorders, so I am incredibly relieved. And really, really shattered. Thanks again everyone - you're all lovely.

OP posts:
Thumbwitch · 06/12/2013 12:49

Great news, Ada! Xmas Smile

And the little green face is for envy, not angry, although I can see why you'd think that! Don't know how you got there from a loveheart though?! Xmas Confused

RachelHRD · 07/12/2013 20:54

Great news Ada!!

New posts on this thread. Refresh page