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Support Group for High Risk NT Results #44

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#51 HappyWomble

Posted 26 February 2014 - 11:29 PM

Jadach - so pleased to hear that your results came back normal. I hope the full results are the same. :D

#52 nellieb

Posted 01 March 2014 - 08:06 AM

Hi all - I can't tell you how helpful and informative I have found this thread and its predecessors in my mad googling since my NT scan yesterday. I tend to be more an EB lurker than poster, but I should have known to turn to EB for information and experiences before googling!

I had my scan yesterday at 13+5 and my bloods done last Monday at 13+1.

My NT measurement was 2.3mm and the baby had a prominent nasal bone. My risk based on these was just under 1:1000.

However, one of my blood results meant my overall risk for trisomy21 increased to 1:225 which puts me into the increased risk category.

I'm not sure which blood level it was - the sonographer explained it as the level produced by the pregnancy itself rather than the placenta so I assumed initially it was the bHCG level, but after googling I'm really not sure. Does anyone know?

I'm going back on Monday to meet with the genetic counsellors and to (hopefully) get the blood work done for the NIPT. Given my odds are less than the odds of a miscarriage with a CVS I think it's the better option for me - although, like everyone else in this position, the thought of the wait makes me want to hibernate for two weeks.

I know my odds are still good compared to a lot of people, but it's still a shock to be in this position so I can't tell you how much I appreciate finding a supportive group of women who have been through or are going through the same thing.

Edited to clarify my risk was for T21

Edited by nellieb, 01 March 2014 - 08:57 AM.

#53 Justaduck

Posted 04 March 2014 - 06:50 PM

Hi NellieB,
Just wanted to let you know I had a similar story with DD1. NT 2mm (12w5d), scan was perfect but it was my bloods that gave me a 1:207 risk for Down Syndrome. My Hcg as 6.01MoM, Pappa was around 0.8MoM.

The blood test wasn't around when I was pregnant with her and like you, we didn't want the risk of the amnio when the odds of losing her were greater than the odds of there being something wrong. It was hugely stressful for the next 27wks until she was born worrying about her, but we got her chromosomes tested at birth and they are all normal :)

I'm not sure exactly about your question with the hormones, but I was told by the specialist that I was likely to have elevated HCG levels in future pregnancies if that helps indicate one way or the other? Although I did have elevated Hcg with DD2 it was "only" 3.59MoM and she is fine also.

The thing to keep in mind with the hcg is that they may wish to keep a closer eye on you in the third trimester (I have to have a growth scan at 32wks and 37wks if there is something questionable at 32wks and CTGs from 36wks) as elevated hcg CAN be linked to issues such as IUGR and placental deterioration. Again, both my girls have been fine in these areas. DD2 had tachycardia but it was possibly linked to me having it as well.

Hoping for great news for you :)

#54 nellieb

Posted 05 March 2014 - 11:20 AM

Thank you so much Justaduck - that does give me comfort. Not that you had a stressful wait, obviously, but that you had similar odds and a similar reason for them and your daughter has no chromosonal issues.

I found out at my appointment on Monday that my hcg was 3.3mom and my Papp-a was .091 so it's definitely my hcg that is causing the concern.

Google hasn't been terribly helpful - or encouraging.

Thanks for the information about other possible issues arising from the high hcg levels. There's plenty of info about the other potential issues with out of whack papp-a levels but not too much about hcg levels.

Thank you again!

#55 Justaduck

Posted 05 March 2014 - 10:37 PM

No worries :)

I completely understand about Google. Having levels of 4MoM+ were hard to come by and the ones about 6+ were all stories I didn't want to read, which is why I want to put it out there that I have a chromsomally normal child who had a reading that high.

After reading your numbers I have just pulled out my paperwork from DD2.
NT - 1.7mm (but that was 12+6)
HCG - 3.59MoM
Pappa - 0.95MoM
so not too far different from you, however she was my baby who wasn't high risk? My odds with her came back for T21 as 1:1227, which was better than my age risk of 1:967.
I'm not sure how old you are, but I wonder if that plays in to your risk level as well as our blood work results were similar. Your NT was a bit higher, but sounds within the normal range for that gestation.

#56 nellieb

Posted 06 March 2014 - 06:46 AM

Yes I think my age probably did play a role. At 35 I think my age risk is about 1:250. My scan risk was 1:899 and then when it was all combined it came back at 1:225.  

It's interesting the difference taking age out of it makes, isn't it?

I've been heartened by the fact my papp-a levels are fine as it seems to be the combination of higher hcg and low papp-a that creates the biggest risk, but of course they wouldn't flag high hcg alone if it wasn't also an issue so the worry kicks in again.

#57 little_bug

Posted 06 March 2014 - 03:53 PM

Hi there, I've been reading this thread for a while and finally got the courage to post. Two weeks ago I had my nt scan and combined with my bloods and age (35) have a 1:2 risk of down syndrome. The baby has a 3.7mm nt measurement. Dh and I are at a loss and struggling to wait another week till I can have an amino. Unfortunately I have the added complication of a big bleed at 12 weeks so I couldn't have a cvs. It's encouraging to see some positive stories, but our risk is so high we're trying to prepare for bad news. Anyway, thanks for reading, it helps to get this down.

#58 HappyWomble

Posted 06 March 2014 - 09:17 PM

Little_bug - were there other factors leading to your 1:2 ratio? Was there a nasal bone? Echogenic spots anywhere? Was your PAPP-A low and HCG high? 3.7mm is higher than normal but isn't enough in I self to get 1:2. I ended up getting that risk factor mostly as a result of age, 43. Also there were no nasal bones and the NT was on the high side. My bloods were good though.

Good luck. Believe me, I know the stress of waiting for the amnio! They're not fun, but they're over quick and you get a good look at your bubs in the scan beforehand :D

#59 little_bug

Posted 07 March 2014 - 06:32 AM

Happywomble I don't know the exact figures for my blood test results but apparently the hgc was high. Initially they couldn't find a nasal bone but it was found a few days later at a second scan. I thought that was a really good thing but my OB said it didn't change anything and I should prepare for bad news as in her experience people with results like mine rarely had a good outcome. I don't know about ecogenic spots, they weren't mentioned but the nt fluid extends further down the body than it should. So I guess it's a combination of all those factors plus the 3.7 nt measurement that's the problem. I'm still trying to be positive that all will be fine as it would be impossible to go through the wait otherwise. Have you got your amino results yet? I hope it's good news!

#60 HappyWomble

Posted 07 March 2014 - 04:36 PM

Little_bug - well, as they say, it's a screening test, not a diagnostic one, and they have to err on the side of caution. My geneticist said very similar things. We we ridiculously lucky and the preliminary amnio results came back all clear! They won't contact us for the full results unless anything bad shows up.

The NT test is all about measuring various things that have shown over a large number of people to correlate with certain things. And every single NT test has their results added to the database so it gets more accurate over time. But basically, all babies are different and grow their different bits on slightly different time lines, but mostly within a statistically average broad range of values.

I hope your amnio goes well and you get good results!!!

#61 little_bug

Posted 08 March 2014 - 07:17 AM

HappyWomble that's brilliant news!  Fingers crossed I'll have good news to share too in a week or so :)

#62 nellieb

Posted 12 March 2014 - 04:55 PM

Hi little_bug - is your amnio this week? Everything crossed for you.

#63 twilightangel

Posted 12 March 2014 - 09:32 PM

Just popping in because today I had my NT scan.

I am 12w4d and had my bloods taken at 12w.

The neck measurement was 2.64mm and a nasal bone was seen. Baby measured 13w. I thought these test results were ok.

This afternoon I got a phone call from my doctors surgery asking me to come in as y test results are high risk based on the measurement of 2.64

Combined with my bloods I have a 1 in 600 and something risk of downs syndrome and the doctor wants to chat with me about having an amnio done.

I am feeling very scared and sad right now.

Hubby and I are hoping to have the Harmony test done instead but will wait and see what the Dr says tomorrow.

#64 twilightangel

Posted 13 March 2014 - 11:01 AM

Sorry just been too the doctors. Nurse had my results wrong. My background risk was 1 in 658. My adjusted combined risk is 1 in 241. I've been referred to a fetal medicine specialist and will be getting an amnio or cvs done.

#65 nellieb

Posted 13 March 2014 - 05:01 PM

It's confronting isn't it, twighlightangel? When are you meeting with the fetal medicine specialist?

#66 twilightangel

Posted 13 March 2014 - 07:20 PM

It's terrifying. Can't believe how much I've cried today. Dr sent the referral today and it was marked as urgent. He said they will contact me in the next few days.

I don't know what to do or think? I don't know if I should be having the cvs or the amnio? I just want to know everything is going to be ok and depending on the test I could have a 1/200 chance of miscarriage and yet a 1/241 chance of downs.

So stressful.

Nellieb - Your in my DIG. How are you? Have you had your tests? Sorry I haven't managed to read through the threads yet.

#67 nellieb

Posted 14 March 2014 - 12:41 PM

I hope they get in touch soon. The not knowing is so stressful.

I had the harmony test done two weeks ago and got my results back today saying I am low risk and there are no issues with the XY chromosones either.

I had odds similar to yours (1:225) so that's why I went with the harmony test before an amnio (I was all but 14 weeks so too late for a cvs).

It's been a rollercoaster few weeks. At first reading obsessively about people with odds around the same made me feel better because they all seemed to have good outcomes. Then it convinced me because they all had good outcomes I would be the *one* in 1:225.

Then as this week has gone on (while I obsessively checked the credit card balance to see if the payment had been processed to give me some idea of whether the test had been done) I thought I had almost gotten to the point where I no longer really cared and I just wanted to move on.

And then the geneticist rang with my results and I nearly burst into tears!

Before I had the harmony test done I had a good chat to the genetic counsellor and he was great. Very helpful with information about the harmony test and an amnio and the relative merits and what he recommended and why. Any questions you have I am sure they will be able to help you with when you see them.

I am in your DIG - I've been flitting around the edges of it but I think it might be time to join properly.

#68 alexis243

Posted 14 March 2014 - 01:25 PM

I'm thinking of all you ladies waiting on results. I know how horrible this time is xx

#69 twilightangel

Posted 14 March 2014 - 06:19 PM

Nellieb - Thank you for taking the time to reply. I am so happy for you that the harmony came back low risk. What a relief.

Today I felt a lot calmer and went back to the Drs armed with questions. Apparently my bloods are in the normal range so it is the nuchal measurement of 2.6mm and my age that have increased my risk.

I asked the Dr about the Harmony test and she was unaware of it. I showed her the place and info I had found in Brisbane and she said she was very happy to refer me to them and said it is a good idea to consider a non invasive test and that she has everything crossed for me.

I was lucky enough to get an appt this Monday so hopefully I will know soon if this baby is ok. I think the 2 weeks will drive me crazy but it is better than waiting the 2 weeks to do an amnio and then a further 2 weeks for the results.

Today I am trying to be positive and remind myself that my risk is 1 in 241 so there is every chance my baby could be one of the 240.

#70 LMD80

Posted 14 March 2014 - 08:15 PM

Hi,  sorry to those that have had bad results, I feel for you at such a stressful and heart wrenching time.

I thought I would come back to share my happy ending, my baby boy was born last Friday and is just perfect! While I had been given the all clear through CVS and scans, it is impossible to not worry until that baby is in your arms. My original post below has my high NT scan details.

While 1 in 2 is a high risk, it's important if waiting on results to remember it is still only 50%... I wish you all the best of luck and thinking of those that have gone through to lose their babies.

Hi, I have only just been able to post this morning. I did the NT scan on thurs and received a high measurement of 3.6mm. This obviously came as a shock and was completed at the OB's office. I then went to a specialised place for another scan and then CVS, the second scan was just as concerning! I have a 1 in 2 chance of Trisomy 21, 1 in 98 for Trisomy 18 and 1 in 90 for Trisomy 13.
The nasal bone and tricuspid regurgitation were also absent.
Free beta -hcg 36.090 iU/I, equivalent to 0.8680MoM. PAPP -A 0.830 IU/I, equivalent to 0.5474 MoM.
I am assuming if I get the CVS results back today that my chances are very low for a positive outcome?

#71 nellieb

Posted 15 March 2014 - 06:20 AM

Congrats on your healthy baby boy LMD80! It must be a massive relief even after being given the all clear with the CVS.

twighlightangel - the wait IS interminable but I looked at it the same way you did. At least results were being processed while I waited as opposed to waiting just to be able to have a test. I figured if I then needed an amnio then at least I could have it without more waiting.

I'm pleased your Dr was so receptive to the idea of the Harmony Test. I know it's not diagnostic like a CVS or amnio but for women in our situation with our odds I think it is a really good option before any invasive tests.

I hope it goes well on Monday and the results are turned around quickly!

#72 little_bug

Posted 15 March 2014 - 06:34 AM

Nellieb I'm glad you got good news! I was supposed to have the amino on Thursday but once again there was too much blood sitting in my uterus. So we decided not to risk it giventhere is still a small chance the baby is ok. So I'm now booked in for the harmony test on Monday. I am kicking myself for not insisting on it 3 weeks ago. If the results are high risk I'll still have to have the amino anyway. The waiting is torture and I have no idea how to get through the next 2 weeks.

Thanks for letting us know your news LMD80! Congratulations!

Twilightangel, it looks like we will be enduring the long wait together. I'll be thinking of you on Monday.

#73 twilightangel

Posted 15 March 2014 - 10:52 AM

Congrats LMD80, that is wonderful news.

Nellieb - Yes, I feel like I am doing something at least and as you say if the worst shows up in this test then I am at the right time frame for the amnio. My first Dr wasn't aware of it and didn't want to know, just referred to a fetal medicine specialist but like I said the next day I felt calmer and had heaps of questions so I went back but saw a female Dr and whilst she didn't know about the test she was happy to look at the info and agreed that the fact it is non invasive is great as there is no risk of me losing a healthy baby. Thank you.

Littlebug - I hope Monday goes well for you too. I wish you didn't have to be doing this two week wait too but we can keep each other company through it. All the best x

#74 twilightangel

Posted 18 March 2014 - 06:35 AM

Well my harmony test has been done. Boy it was a pain in the bum. I have very bad veins so it took a lot of hot water and time to get one, in the side of my wrist of all places but it didn't collapse once the needle went in so I was happy to deal with the bruising.

On the drive home the fetal medicine lady rang and offered to book me in for a cvs this week. I told her I had just had the harmony test done and she said well I don't need to see you then unless the results for that come back high risk but I don't think they will as your odds are pretty good.

Fingers crossed for the next 2 weeks.

#75 nellieb

Posted 18 March 2014 - 06:36 AM

Everything crossed for you.

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