Please or to access all these features

Add post

Watch this thread

Save thread

Start a new thread

Flip thread

Hide thread

My feed

Active Unanswered threads

Getting started FAQ's

Unanswered threads Acronyms Talk guidelines

Hide shortcut buttons

Talk

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.

Flip

Original poster

High nuchal measurement and baby smaller than expected - help

20 replies

daftgeranium · 03/10/2013 13:40

We had the scan today and what we thought was 12+1, but baby measured somewhere between 10+5 and 11 weeks (40 mm). Baby was moving around and its heartbeat was strong, but the nuchal measurement was 6. They refused to do bloods as they said it was too early, took us in for an ominious chat with the midwife, and have booked another appointment for full screening with a consultant next week... to be honest we are pretty much expecting this to come back as high risk,

This is my first baby at 42 and we are heartbroken :(. does anyone have any advice or experiences to share? and is the small size of the baby of any significance?

OP posts:

ShangriLaLaLa · 04/10/2013 23:38

Hello Daftgeranium

I'm an old timer here but I was looking in and saw you'd had no replies. I'm a veteran of distressing scans and fully understand the plummet of good vibes that a worrying scan can bring.

I've been here since 2004/5 ish. Seen some incredibly high nuchals come back fine on these boards. Some really 'normal' nuchals haven't turned out to be that way.

Between my DD and my DS I had 7 losses of varying kinds. DS was finally born when I was 45 and by that stage I had come to realise that it doesn't matter about anyone else's story, it's all about what's going on with you at this stage, with your own individual set of circumstances.

The best you can do is hold tight and just get through the next few days until you see the clinical team. They will give you the facts and hopefully counsel you regarding the next level of testing that's appropriate for you. That could well be a CVS which will give you an initial result regarding chromosomes quite quickly. With this clear, extra heart scans can be offered at around 18 weeks, perhaps earlier.

So, to my thinking, the worst part is this wait, this not knowing, right now. After you've connected with the Fetal Medicine Team, you'll know more and you'll feel in control. It's rubbish that you have to even have this conversation but pretty soon, you'll know more.

And it does come good. Many times. I hope it comes good for you.

Original poster

daftgeranium · 05/10/2013 08:58

Thank you for such a considered and caring reply - you are spot on, and we will wait until Wednesday..... fingers crossed for then.

OP posts:

CrispyFB · 05/10/2013 23:35

Two of my children have measured a week ahead at 12 weeks so it makes sense there are babies with no chromosomal issues that do the opposite at that stage too, to balance things out. No baby grows like textbook!

Like ShangriLaLaLa says, there have been plenty of stories here (and in other places) where things can go either way.

Just realised I replied to your other post - I see now why you were so concerned over screening so high! It is pretty much a given you will screen positive especially with your age as you'd screen positive based on that alone, but it is by no means definite that there is actually an issue.

Keep us updated!

Original poster

daftgeranium · 09/10/2013 14:49

Thank you all. I had revised scan today - not looking good, fluid has increased around the whole baby and in the lungs, evidence of exomphalos, and no nasal bone evident. Risk of Downs has come back 1:3 for both scan and bloods. The consultant told us that the probability of the baby being healthy is at most 5 - 10%.

We are struggling a bit here as I was to have a CVS as soon as possible and my partner doesn't want us to because of the risk to the baby. He also would let nature take its course no matter what, where I would consider termination if I felt it prolonged the baby's suffering to carry on.....

Thanks everyone for your support and comments, they help so much.

OP posts:

OneLittleToddleTerror · 09/10/2013 15:10

Hi, the CVS isn't actually that risky. It all comes down to how you feel about having a downs baby.

There is now a test that can sequence a foetus DNA via the mother's blood to check for chromosonal abnormality. It's called the harmony test. If you could afford £1k, it's something to consider. Again depends on whether you can afford it and your risk attitude.

I haven't had any experience with high nuchal and slow growth myself. I was greeted with an empty sac when I had my last 12 week scan. It was devastating.

Original poster

daftgeranium · 10/10/2013 10:12

Thanks for this OLTT - we have considered Harmony but consultant has advised there is a high probability of it coming back positive, and that it doesn't give as comprehensive a picture as CVS, so we are going for the latter.

sorry to hear that you've been through such a horrible experience as well. I feel that there is little hope left for us and I am already deep into grieving... it's all very sad. I think made worse by the fact that I am 42 and childless :( ShangriLa's post (above) gave me some hope on that front though....

OP posts:

snapple21 · 10/10/2013 11:22

Daft geranium sorry to hear what you are going through - thinking of you when you have the cvs. It is very sad - u had a tfmr last year - my first baby also - I was 22 and extremely suprised when it turned out baby had downs. Have you considered contacting the charity antenatal results and choices? Www.arc.org.uk I believe is the address - they are a lifeline for women facing difficult pregnancy choices.

snapple21 · 10/10/2013 11:23

I had a tfmr * sorry iPhone fat fingers.

AliBingo · 10/10/2013 11:53

Daftgeranium, very sorry to hear your news.

I have had an amnio and a CVS in the last 6 months and didn't have any problems with either procedure (although found it a bit uncomfortable especially because I am squeamish with needles). It's over very quickly.

The first was positive for T21 and I had a TFMR in March, this board has been a fantastic support for me since then, it's been so therapeutic to talk to everyone on here, I haven't felt able to talk about all this in real life as I don't know anyone who's been through anything similar.

I really hope that you get good results, and will be thinking of you.

Please keep posting if you have any questions no matter how silly or sad they seem, or even if you just want to unload.

March was a horrible time for me and at the time I couldn't see how I would ever feel normal or hopeful again, but now I am pregnant again and this time it is all fine, I am getting on a bit too as am nearly 39.

Sorry, I am not very good with words, just trying to say that there is always hope and hopefully everything will turn out ok in the end.

Ali
x

CrispyFB · 10/10/2013 16:07

I'm so sorry you are going through this. I am hoping very much your baby will fall into that 5-10% the consultant mentioned. Stranger things have happened. Thinking of you, and keep us updated.

Original poster

daftgeranium · 11/10/2013 17:45

Thanks all. Likely to get CVS results next Friday.....

OP posts:

ShangriLaLaLa · 11/10/2013 22:26

Oh DG, such a tough week ahead for you, but by Friday you will know much more.

I'm so pleased my story is of some help. I had 4 losses over 40 but still finally managed to produce the most beautiful boy at a grand old age. His birth made all the past hurt disappear immediately.

I hope the week is bearable, passes quickly and I'll be checking in to see how you go.

Original poster

daftgeranium · 15/10/2013 12:10

Update: We went in for the CVS today but sadly the baby has died at twelve and a half weeks. Have started MMC process today and likely to miscarry tomorrow. They will still do tests to find out what was wrong, these will take about 4 weeks to come back.

It's really sad but in a way we have been comforted knowing that, with a baby who was very very poorly, the little thing isn't suffering any more.

Thank you to everyone for your support and wisdom, it's really helped.

OP posts:

AliBingo · 15/10/2013 14:55

So sorry to hear such sad news DG x

CrispyFB · 15/10/2013 18:47

More hugs for this thread. I am really, really sorry.

Original poster

daftgeranium · 30/10/2013 15:24

Hello all

Just received the test results back - it was Edward's Syndrome, Trisomy 18. We have been offered blood tests to see whether there are any chromosomal abnormalities with either of us that could lead to a higher recurrence.

does anyone know anything more about Edward's Syndrome?

OP posts:

CrispyFB · 30/10/2013 20:53

I'm glad you have an answer. The only thing I know about T18 is that there is never a good outcome, ever. And that it is rare, along with T13. I hope your genetic results come back clear, I think in most cases it is just bad luck but that's not based on reading any clear research, just on what I've heard others say.

Mondaybaby · 30/10/2013 21:11

Daftgeranium, just read your posts and wanted to say how sorry I am about what you've been through. I hope, in time, that you can move forwards and feel able to try again for baby.

delphi13 · 31/10/2013 14:44

Hi Daftgeranium

Whilst not an expert on Edwards I know a little as my sister in law was pregnant with a baby with Edwards. She opted for a termination in the end as the outlook for Edwards tends to be that the baby either doesn't make it to term or dies shortly after birth. I'm sorry it's such bad news and such a difficult decision to make with your partner.

My sister in law did find it very difficult and still misses the little boy she never properly got to meet. She has found some comfort in the SANDS charity which may help you or speaking to ARC may help.

I wish you the best with everything.

In terms of Edwards being a genetic inheritance, I don't really know much about it apart from the fact that my sister in law had 2 completely healthy children before this one so wasn't affected previously.

lalamumto3 · 31/10/2013 14:51

Thinking of you, I am so sorry for your loss.

Flip