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High risk for DS based on 12 week scan UPDATED
Did anyone else refuse further testing?

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#1 HairyMaclary

Posted 14 January 2013 - 05:53 PM

Saw my ob for our 12 week checkup this morning and when we saw him he hadn't received the report from our NT scan yet, he just had the films that we brought in.  He looked at them and said everything looked fine, nuchal measurements (there are 2 since we're having twins) were low risk.  We couldn't have the blood test because we are having twins since the hormone levels would be very high anyway.  Because I have a history of having a dodgy cervix (needed a stitch with DS1 but was fine with DS2) and the twins share a placenta, we are going to need fortnightly scans until about 32 weeks.  So when we left his office this morning we knew we were considered to be a "high risk" pregnancy but so far everything was going as well as it could.

Then I got a call from the Ob this afternoon to say that he got the report and I am officially classified as high risk for Down Syndrome based on the results, but only just (I think my risk was around 1:280/290 and the high risk cut off is 1:300).  He said that if I'd had the blood test it most likely would have taken me out of the high risk category since the NT measurements were fine, but since I couldn't have the blood test it is mostly based on my age.  No soft markers for DS were picked up in the scan either.  

He ran through our options and the risks (amnio vs CVS), and the risks are higher for amnios with twins because they have to take a sample from each sac.  I asked what happens if we choose to do nothing.  He said that is our choice and is fine too.  He said that I'll be having so many scans that if anything is picked up we can deal with it then.

I called DH and we talked about it.  We both agreed that as the risk of miscarriage for either procedure is higher than our risk of the babies having DS, we wouldn't go ahead with the tests.  Also, we would be highly unlikely to terminate anyway based on the results.  Plus nothing else is pointing towards DS aside from my age.

Has anyone else been told that they were high risk for DS based on the 12 week scan and opted not to have further testing?  I'm not looking to be talked into or out of our decision because we're happy with our choice, but it would be nice to talk to others who have been in the same situation.

Edited by HairyMaclary, 23 July 2013 - 06:57 PM.

#2 redmum77

Posted 14 January 2013 - 06:04 PM

Hi there,
Its not nice to deal with uncertainty sad.gif I was deemed high risk with this pregnancy from the 12 week blood test. Scan was all fine. By high risk though I was 1:85. We decided to have a CVS at 14 weeks. It came back clear but I leaked amniotic fluid and nearly lost the baby. Worst night of my life! So I heartily support your move to leave things be, especially as your results are only age related (thats what mine would have been on age alone).

I sympathise with the need to be comfortable with your decision, there is so much to think about. I hope they gave you a good genetic councillor, ours was great and very non-judgemental. I hope all goes well with the rest of the pregnancy original.gif

#3 katbalou

Posted 14 January 2013 - 06:13 PM

With DS3, I had a high risk NT result of 1:5.  After the scan, my results were on a par with normal for my age at the time (42), so I knew I classified high risk already.  But when the bloods came back, it made the picture far worse.

It threw us for a bit of a loop, but after we discussed it, we realised that any diagnostic test results wouldn't change our decision to go ahead with the pregnancy, so it made no sense (for us) to put the pregnancy at risk to find out.

It was a very smooth pregnancy in all physical respects, but a little fraught mentally.  I just did a lot of research, and was quite comforted by that.

I remembered posting about it at the time (it was the way I found EB actually) - and we started a thread about it, which ran for a while - but I'm not sure if it still exists?

Good luck with your pregnancy, and try to relax.

Edited by katbalou, 14 January 2013 - 06:18 PM.

#4 Super Cat

Posted 14 January 2013 - 06:30 PM

Sorry to hear you're going through this. I know exactly how you're feeling right now. We got a risk of 1:114 with DS. My maternal age was 39 so, it was supposed to be high but it was still higher than we expected. We opted for no invasive tests, only more scans. That decision bought us a lot of grief from some people who really couldn't understand why we would not have the amnio. Most people were really supportive though but we did have to distance ourselves from some people for a while.

Our situation will of course be different to yours as Ds was a singleton pregnancy and he ended up being IUGR. But, in the end he did not have Down Syndrome. I started a support group back then in the 'Pregnancy Tips and Questions' subforum because I couldn't find anyone else who didn't go on to have an amnio or CVS. The group has largely died off I think but there may be others still out there who can add support.

#5 livvie7586

Posted 14 January 2013 - 06:38 PM

OP, i thought (and don't go quoting me on this) that NT results with twins were really to be taken with a grain of salt, that they weren't as reliable as with singletons, and were usually skewed to have high results?

someone in the twin forum would know more

#6 HairyMaclary

Posted 14 January 2013 - 06:49 PM

OP, i thought (and don't go quoting me on this) that NT results with twins were really to be taken with a grain of salt, that they weren't as reliable as with singletons, and were usually skewed to have high results?

That might be to do with the blood tests, which is why my Ob didn't order them.  The results I'm referring to are the measurements of the fluid at the back of the neck, both of which came back in the low risk range.

Thanks for the replies.  It is good to know that we are not the only ones who have made that choice.  After I posted this I got a call from my SIL and had a chat to her about it.  They were also considered high risk since she was 40, but opted not to have any testing done either for the same reasons as us.  I also spoke to my mum and a close friend, both of whom felt that we were doing the right thing.  So at least we have support around us.

I have to admit that I'm not too worried about it.  As you can see from my sig, we know exactly what it is like to have a child with special needs and we also know that the odds don't guarantee anything.  His condition has an incidence of 1:20,000 and occurs randomly - someone has to be that one and it turned out to be us!  Having identical twins is also a random, spontaneous thing that happens in 1 in 300 pregnancies and of course we are the 1 there too!  I guess we are going to have to play the odds again and hope they go in our favour this time.

#7 Cyaira

Posted 14 January 2013 - 06:58 PM

Hi Hairy, consider coming and joining us in our High Risk NT results support group: http://www.essentialbaby.com.au/forums/ind...30&start=30 lovely bunch of ladies.

Reading through the threads might be helpful.

I had a risk of 1/294 and opted for no amino but we are being monitored with extra ultrasounds. All looks normal so far, almost 31 weeks. Singleton pregnancy though.

#8 yoohooyou

Posted 14 January 2013 - 07:04 PM

I got exactly the same risk assessment as you OP at our 12 week scan and decided to do nothing. It is so borderline and we knew that we wouldn't do anything anyway. As my OB said my risk based on maternal age was 1:109 so the risk had really gone down even though it didn't look as good as it could.

A few friends thought we were crazy not to get further testing and while I did consider it carefully for about two hours my ever optomistic DH told me to remember that 1:290 means exactly that - 289 babies will be fine and if we do get the 1 then we will deal with it when it happens.

At the 20 week scan the NT results look perfect. I'm 24 weeks now so time will tell.

#9 hanz33

Posted 16 January 2013 - 06:15 AM

I wish you all the best

#10 imamumto3

Posted 16 January 2013 - 06:25 AM

my results were high with my first, it was the bloods that threw the result out, the scan looked fine.  the dr at the ultrasound place said she wouldn't advise further testing as it had been so hard to conceive in the first place, it wasn't worth the risk

#11 magicalmum

Posted 16 January 2013 - 09:39 AM

We also declined amnio after high risk results. Our story is a little different (and sad so may be sensitive for some readers, sorry).
One of our twins had very high risk results after NT. By the time the amnio was due, it was obvious our baby had a lot of abnormalities and would likely pass away during pregnancy or quickly after birth. We decided not to do amnio at all, as it wouldn't change the outcome, and we wanted to decrease any risk at all of losing our other twin, or causing preterm labour due to intervention. It's a really personal decision and you have to go with what your gut tells you, my DH and I just feel lucky that we're both on the same page with these decisions.
No one can tell you what is right or wrong as there is no right answer. Of course, if you choose to change your decision down the track you can get the test done later.

#12 Lainskii

Posted 16 January 2013 - 12:04 PM

My first pregnancy, we were 1:270 (ish - can't remember exact figure), we decided to not do any further tests as the risk for miscarriage was higher and like you our scan results were good. They checked for 'soft markers' at further scans and everything was ok.

For my second pregnancy my risk was 1:33, even though it was my blood tests that brought the risk up, scan looked good, we decided to have an amnio as we wanted to know one way or another. DS was fine.

You also have to remember that it is statistics and just because you have a great ratio doesn't always mean there are no issues. During one of my many scans for the last pregnancy, the sonographer said they recently had a client whose risk was 1:4000 (and something) so they obviously didn't test and unfortunately they were the 1.

Good luck with your decision and the rest of your pregnancy.

#13 beabea

Posted 16 January 2013 - 12:19 PM

I had a friend who was given a risk of 1:250. This was their one-shot at IVF and they only got one embryo, so of course she was loathe to take any risks! She opted against further testing, reasoning that there was a 249/250 chance that the kid was just fine and that further scans could help reassure her of that.

Towards the end of the pregnancy she did find the doubt creeping back in nonetheless, so she had to keep reminding herself that followup scans now showed her to be low risk and that the risk was never that high in the first place - a lot of deep breathing! Her son is absolutely fine today.

#14 Justaduck

Posted 16 January 2013 - 10:22 PM

Yes - My bloods were through the roof - hcg was 6.01MoM (normal .05-1.0). At 23 I was given 1:207 chance of DD having down syndrome.
We opted for no amnio - we didn't want to risk a chance of miscarriage when our child could be (and is) perfectly 'normal' just for our curiosity.
I will tell you though it is NOT easy and will be on your mind for most of the pregnancy.
My advice - go to a specialist fetal medicine unit for your 19week scan, not just your local Qld Xray. (If in Brisbane I advice for Dr Carmody at Sunnybank). They are trained specifially in pregnancy related ultrasounds. Most of the general places are trained in ultrasound, so s/he might scan you, then scan the next persons leg for a blood clot.
Based on that scan, they were able to lower my risk by 3 fold (1:624) which is the maximum. I was then closely monitored with growth scans (32 & 37 weeks).
I cried waiting to go into theatre because it was the moment of truth.
Please feel free to PM me at anytime if you have concerns

#15 Mum_of_five

Posted 16 January 2013 - 10:31 PM

My results were 1 in 11 based on age and bloods, the ultrasound showed no soft markers at 12 weeks..Dh and i opted not to have an amnio because we would keep bubs regardless and we didnt like the risk of misscarriage.. I had a misscarriage with my first and just couldnt take the risk...

I had a T2 us at 20 weeks and all came back with no markers... Our bubs is 3 weeks old and is healthy with no abnormailites... During labour i  wanted bubs out just so i could see her and know that she was fine. I had growth scans from 25 weeks and even though i was told that no scans showed anything, like another mum posted,  the doubts creep in during birth...

Edited by mum2bof5, 16 January 2013 - 10:39 PM.

#16 Bebepo

Posted 20 January 2013 - 09:12 PM

I had my NT scan last week and risk for trisomy 21 came back to be 1:133. At the age of 35 my background fish is 1:300. My obs and the fetal medicine dr both reassured me that the scan looks normal and the present of nasal bone was reassuring sign, it was my blood result that pushed the risk higher.This is my first preg after a few ivf cycle, so obviously the risk of miscarriage with Cvs and amino worries us.
We have opt to do the NIFP testing next week. This is a fairly new test whereby they collect maternal blood, send it to USA, and test it looking for fetal DNA in maternal blood. Suppose to be 99% sensitive for trisomy 21. It cost a lot (a$2000) but we figured out that if the result comes back favorable it will save the risk of having invasive tests. It will take 2 weeks for the result to come back.
I am not sure if this test will work for twins preg but theoretically it should.Maybe ask your obs about this option if u can justify the cost.
All the best with your twins preg.

#17 bearandmoosmum

Posted 21 January 2013 - 02:00 PM

I to am also worrying. I had the DS blood test done 2 weeks ago and am having the scan done tomorrow. But last week I got a call from the receptionists saying I need to make an appointment with my Dr about the blood results but obviously they won't tell me anything over the phone. I was so nervous as my appointment is now on Wednesday that I went to the walk in clinic and got my blood results faxed through and got a Dr to go over them with me. The Dr told me he doesn't know why I would be called in when I haven't had the scan yet and he can not see anything wrong with the results. But I can't help worrying why they need to see me. It's my 3rd baby and I am 26(27 next month). I had the DS scan for both my previous babies and never got called in to see the Dr about the blood results.
I am so worried as it took us 2 yrs to conceive this baby and I just want it to all be fine :-( I have to results of the bloods if anyone knows if they mean anything?

Free B HCG   25.16 IU/L
PAPP - A   0.94 IU/L

If anyone can shed some light on what those blood results mean, that would be great

#18 rainycat

Posted 21 January 2013 - 02:17 PM

Hi, i haven't had a chance to read the other replies.
My 12 week scan didn't show any soft markers but combined with my blood test my risk of Down Syndrome was about 1:90 for each baby. It was a shock at the time as I was so elated after the scan.
We opted out of any further testing as we decided the chance of miscarriage with either twin was too high and we had already decided we were keeping both no matter what!
I was stressed and upset at the time but was able to keep it at the back of my mind until the day they were born.
I kept telling myself that those odds weren't too bad.
All other scans (and there were lots) didn't pick up anything to be worried about.
If it happened again I would of done exactly the same thing.
My twins are now 3 and all was okay.
Good luck!

#19 mummacat12

Posted 21 January 2013 - 02:40 PM

Hi all,

I have my fingers crossed for everyone.

Like so many I went in a few weeks ago for the NT scan on cloud 9 and came out in tears!

The measurement at 13 weeks was high at 3.2mm but my bloods were fine and nasal bone present which put us at chances of 1:323 rather than 1:600 (although I am 30 and thought it should be out of 900 but didn't think to ask at the time).

The Doctor started rambling on about the further tests before we were even given our results and we had waited over an hour past our original appointment time so I didn't really take much in.

Like others I have gone through ups and downs and still trying to make myself believe that this is low risk. They told us to come back for a 16 week scan to check the neck measurements (though I thought too late?).

Anyhow just wanted to say that we didn't decided on further testing as I am stressed enough with this and don't want to stress about putting bubs at risk, but I completely support anyone that does. and although the worry hasn't gone away I feel I cam coping alot better each day as I feel this bub needs its mummy's full attention and love no matter what and I will never stop being its mummy!

#20 greenthumbs

Posted 21 January 2013 - 04:23 PM

Yes, our scan and bloods came back at 1:146. We decided against further testing as we wouldn't have acted on the results.

It was a tough few weeks after the scan, but the worry did abate eventually. It would rear its head occasionally, but we're glad with our decision. During the pregnancy we did have extra scans especially on his heart. I had 'high-risk, declined further testing' in big writing right at the top of my yellow card which p!$$ed me off, but otherwise everything was relatively normal.

Little man is now 17mths old and does not have any syndromes. Next time we probably won't even have the NT scan in the first place.

#21 mombasa

Posted 22 January 2013 - 08:33 AM

We were told with DD2 that our risk for DS was 1:30 and while we did have an amnio, our results came back clear, best of luck for the remainder of your pregnancy, I think it's a lose/lose situation, we were criticised for having the testing and met couples who opted out and were also given a hard time sad.gif DD2 was also a cervical suture baby original.gif She is a happy healthy four year old now.

Congratulations on your twins as well original.gif

#22 YellowTulip

Posted 22 January 2013 - 08:19 PM

Hi all,
I am so glad to have found this thread. DH and I went for our scan last week and although we were on a high seeing our baby we left at an all time low. I am 29 and my result came back 1:39 based on my Papp-a levels. We have booked for an amnio next week, and it has taken us a lot of debating as to whether we would even have the amnio. I guess we finally came to our decision so we could prepare ourselves, as I already know what it is like to have DS in the family ( my younger half sister is DS) and want to rule it out or get ready for what lies ahead.
I am trying to remain optimistic, and know that I will be taken care of with further scans and bloods even if there is nothing wrong after the amnio, but it does place doubt in your mind!
Good luck to everyone with their final results!

#23 HairyMaclary

Posted 23 July 2013 - 06:56 PM

Just wanted to update in case anyone comes across this thread and wonders how it worked out.  

Our girls arrived at 36w3d weighing 3.2kg and 2.7kg.  Both healthy, no signs of any chromosomal abnormalities  smile1.gif

Here is a photo of our beautiful girls

#24 Windingvines

Posted 23 July 2013 - 07:02 PM

Adorable. Congrats  eexcite.gif

#25 Ritaroo

Posted 23 July 2013 - 07:28 PM

So adorable. Congratulations!

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