Hi All
I had my 19 Week scan yesterday and was told that my risk of having a baby with Down Syndrome
has gone from 1 in 3100 to 1 in 182 (thickness of the neck)
Has anyone else had chances or risks like this? How has it turned out?
I was told by the synographer that everything else was perfect and there were no other indicators.
I'm having an Amniocenteses on Wednesday and i'm really nerveous about it.
Should I be scared? Does anyone have any stories or experience in this?
Massive hugs to you. This is a very scary time. I've been there - it is not fun. My story has a happy ending...
At 12 weeks my daughter had a thickened nuchal fold. Her nuchal fold measured 7mm. "Normal" is less than 1mm. When combined with my blood test results, our DS risk was 1:20. We were told that there was only a one in ten chance that she would be born at term, healthy, normal and even alive. Until recently, I had never cried as much as when I found out we might have a problem. If we made it to term, she would have some sort of massive complication - no measurement that big ever means nothing, it always (well 9 times out of 10) means something is massively wrong.
We opted for immediate CVS (similar to amnio but the sample is taken from the placenta, not the amniotic fluid) and within 48 hours we had ruled out DS as well as two other major chromosomal abnormalities.
We then had to wait 2 weeks for the full genetic screening, which was all clear. We then had to wait two weeks for a full morphology scan (16 weeks was the earliest the sonographer was willing to try) when we were cleared for any major organ issues. We then had to wait another 4 weeks for a full scan at 20 weeks to double triple check.
And then we were allowed to believe it was ok. She was the one in ten that is fine. Our Obs and our sonographer could not believe it.
It was 8 weeks of hell... every week things got a little better, looked a little brighter, and she is now an extremely bubbly, larger than life almost 3 year old. There is nothing wrong with her at all. She's our little miracle.
They eventually diagnosed a cystic hygroma, which is basically where the head develops out of sync with the rest of the body and takes a bit of time to catch up, but if you scan at the wrong time where head and body are not in proportion, there can be a hygroma present, where a bunch of fluid is pooling at the back of the neck where the spinal cord is trying to catch up to the rest of the growth, or something like that. At every subsequent scan, the measurement went down.
There are lots of other reasons why your baby's measurement might be high. Please take it easy on yourself - stay away from Google, Google is not your friend. Do not overwhelm yourself with questions of what might be - take each day as it comes, each test as it comes and work your way through. Deal with each result as you receive it and then look to the next test.
Can I ask, what happened at your 12 week scan? Did you have a scan at 12 weeks?
It is great that there we no other "soft" markers for DS.
One step at a time. We're here with you all the way.
I've got nothing relevant to say Vianna but wanted to say I feel what you are going through - it's something we all fear. But yes there are lots of happy endings to situations like this.
Thanks for your response, especially OceanPrincess!
I'm so glad to hear everything went well in the end and turned out to be a nice ending. So blessed!
I really hope this does turn out for me.
But considering you had 1 in 10 and it all turned out fine and I am 1 in 182 then I suppose it could be good too. Starting to feel a bit better
And yes there were no other "Soft Markers" the sonographer said everything else was perfect!
So hope and pray that it could be just DS with a thick neck Lol!
Can't help it but I'm so worried and scared though
I think everything OP has already said is perfect. I'll just add that a girlfriend of mine was giving a 1:3 chance of DS at her 12 week scan and that bub is now a perfectly healthy 5 year old. She had decided that she wouldn't terminate even if her baby had DS so chose not to have the amnio. Poor love spent the next six months seriously stressed, and then gave birth to a perfect baby boy.
I think that sounds a bit strange, that it was so small at 12 weeks and is now bigger? They call the 12 week scan the Nuchal Translucency test to screen for DS because it is the best time to screen for it - as the baby develops, things change... and I thought it became a less reliable indicator???
My DD2 had a normal 12 week NT measurement and it was raised at the 20 week scan but they ignored it as the 12 week scan and bloods are meant to be far more accurate for diagnosing DS. My DD had no other soft markers. I think by 20 weeks babies are often growing at different rates and may not fall within the norm.
Good luck with your Amnio, If you arent sure about the risk or if you really want an amnio get a second opinion it can't hurt and remember a 1:182 chance means 181 of those babies will be fine
I had a 1:200 chance with DS, but like some of the PPs I thought they didn't use nuchal fold as an indicator past 13weeks as it was inaccurate.
I had no soft markers at my morph scan and my doctors knew it wouldn't affect my choice for the pregnancy so nothing further was said.
i had a 1/82 chance with dd, due to my bloods, the scan at 12 weeks she looked fine (her nt was 1.5mm which my specialist says is perfect and that anything under 2mm is what she considers normal but i guess they all have different requirements which is scary) i went for the amnio and in less than 24 hrs had DS ruled out, in 2.5weeks got the all clear for all abnormalities. had the 20 week scan where they told me they would likely find a heart defect, nope nothing again, had another scan at 32 weeks as they said my bloods at 12 weeks indicated the placenta wasnt working well and that dd would be small and preterm. again all a huge worry over nothing, she was way above average at 32 weeks and they then said woops looks like your having abig baby. so yep another good story here, they get it wrong so much.
my specialist said she would never take a nuchal thickness measurement after 12wks6days as it is completely innacurate. But as we've already etablished they all have different ideas and requirements.
goodluck i hope everythings fine, please post whenever you need to chat or vent.
We had a 1:3 chance of DD having an abnormality that would take her life, doctors was nearly confirming it via ultrasound and telling us to our face that she was going to die. We still opted to not have the amnio because we'd done our research and had faith. And DD is perfectly normal.
Sending plenty of hugs.
i was under the impression that the nuchal fold measurements were less accurate after the 13/14 weeks as well we had a 1:290 risk for DS at the 12 week scan this time - my bloods pushed it up - and i had a cvs. the results came back fine & nothing out of the ordinary was identified at the 20 week morphology scan as well.
sending lots of as you wait for the amnio - the waiting is really tough. but do stay away from google & come & vent here anytime.
My dd's nuchal was 3.3 and were told she would be incomatible with life, we had CVS done and then cardiac scans and was watched very closely. An extremely stressful, heartbreaking place to be in. I am sorry you are going through this now. My DD is very healthy, just was put through hell during the pregnancy.
THANK YOU ALL!
I really appreciate all your comments and stories.
I went to see my OB yesterday and she went through ALL the results of the 2nd Trimester scan
and said everything else was perfect and there were no other soft indicators. And the fact that the results from my first scan and blood tests
came out really positive then these should be indicators of a good result.
She said she would be nerveous but confident. And also said she would be surprised if the amnio came out positive.
So my Amnio is on Wednesday and I am paying for them to do the "Fish Test" so I get the results of some (including DS) within 24 hours.
So thanks to your posts and my chat with my OB and a genetic cousellor I feel better.
Still I think its going to be a restless couple of nights/days!
Hi Vienna,
I am sorry for the scare you are going through, but as you can see you're not alone! I agree with what the others have said - they usually only check the nuchal measurement between 11 and 13 weeks because that is the best time to check for DS.
I was given a nuchal measurement of 2.7 and some of my blood tests indicated a high risk for DS, so I was told there was a 1:15 chance which I was really scared of as I'm 30 and thought that wasn't very old! I initially wasn't going to go through with the amnio or CVS as I didn't want to risk a miscarriage (I've had 2 already). But after talking with the genetic counsellor, I thought I would go ahead with it because he said he hadn't heard of any incidents of miscarriage due to infection after an amnio at the hospital he worked at. I think the thing with the risk is that about one in two hundred women will miscarry in the second trimester, and the risk is the same for women who do or don't have an amnio. Anyway, I went through with it even though I was terrified as I really didn't want to spend the rest of my pregnancy not knowing, I wanted to prepare so that I could give this bub the best chance if it were to be born with DS. I was phoned and told that the baby doesn't have DS, such a relief! You will most likely be given the same answer, especially as there are no other markers and your 12 week scan was fine.
So the needle part really isn't bad, I thought it would be way worse! It's kind of like a blood test, it pinches as it goes through your skin, and then hurts a little as it goes through the uterus. Then you might feel like you have sore abs for the next day, just like you've done too many sit-ups. Nothing unbearable and not period-like or anything like that which is good. I would recommend you take the day and the following day off work just to take it easy as you don't want to over-do it.
Good luck! I will be thinking of you... Let us know how you get on.
Cobie
xoxo
Hi All,
Firstly, Thank you all for your support and messages!
I had my amniocentecis on Wednesday! It hurt a little but was over so quickly I didnt get the chance to think about it!
It hurt a little afterwards and yesterday just left like having period pain and a bit uncomfortable.
So we had the "Fish Test" which is like the rapid version. They give you the results in 24 hours. Essentially, when they take the amnio fluid they check every single chromosomes
Now this can take about 2 weeks. But for the Fish Test they check and confirm results from 3 Chromosomes one of which is for DS
So we got the results yesterday and there is no detection on DS or 2 other abnormalities!
so happy to hear that you got some good news it's fantastic to be able to get those FISH results as well, i think i would have gone slightly crazy if i hadn't had those!!
hope you can relax & enjoy the rest of your PG and xmas
Soooo Scared :(
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This is a very scary time. I've been there - it is not fun. My story has a happy ending...
we had a 1:290 risk for DS at the 12 week scan this time - my bloods pushed it up - and i had a cvs. the results came back fine & nothing out of the ordinary was identified at the 20 week morphology scan as well. 
it's fantastic to be able to get those FISH results as well, i think i would have gone slightly crazy if i hadn't had those!!
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