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Support Group For Hi Risk NT Results #37


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#76 tick

Posted 22 December 2011 - 11:30 AM

OH and about my own results - a very detailed morphology scan a couple of days ago showed everything to be normal, and the swelling around the head and torso has gone completely.  In three short days my NT measurement went from 7.1 to 5mm, then yesterday it was 4mm (an obstetrician had a quick look when we were seeing him for a consultation).  At that rate it would probably be within normal range by xmas and I'm begining to think that if I'd booked my NT scan for 13 weeks instead of 12 I'd be oblivious to this whole debarcle.......

#77 ttc3

Posted 22 December 2011 - 11:54 AM

Just a quick reply about CVS costs.  My scan and CVS was $390 of which I got about half back from medicare.  The laboratory invoiced me $575 of which I was out of pocket about $200 only after going to medicare.  I didnt get the FISH results but there is no medicare rebate for them (as others have said)  HTH

#78 SilverSky

Posted 22 December 2011 - 12:04 PM

Hi tick thank you for your kind words. I've given up trying to PM, not working.
I think I read that you had 1:3 chance due to the actual scan? How were your bloods? My 1:3 is due to the Papp-A hormone which is really low. The doctor said the scan was fine.
It's great you had the all clear for the trisomys though. What a relief! Unfortunately I am in a semi rural area so need to travel to get the test done. I'm anxiously waiting for a phone call from the doctor about when I can get the test done, what a terrible time to organise these types of things!
It's nice to know that I can talk to someone else about this. It seems 1:3 is just sooo high :-( Will try and stay positive though!
Cheers, thanks again for your messages, and everyone else too. Hope everyone receives good results ox

Edited by chickydee, 22 December 2011 - 12:19 PM.


#79 Ohhmum

Posted 24 December 2011 - 05:18 PM

Hi everyone - I just wanted to add my story, 'cos I know that in the past few weeks I have spent hours trawling the internet looking for stories that were similar enough to my own to boost my hope, and thought mine might help someone doing the agonising wait!  
I am 37, and am nearly 16weeks with bub # 3 after a miscarriage earlier this year.  I was half prepared for a missed miscarriage at the NT scan, but instead saw a healthy heartbeat - 178bpm. Unfortunately that relief was shortlived...  After checking out everything else and reporting no concerns, the sonographer finally got to the NT and measured it at 3.5mm - apparently 1mm too big!  I had to wait a few days to see my GP for the final results - bloods were PAPP-A 0.34 MoM, and HcG 0.74 MoM.  Combined these gave me a risk for DS of 1:36, of Trisomy 18 of 1:40 and Trisomy 13 of 1:36.  Not the greatest!  I never thought I would have an amnio, however the specialist assured me that at a risk of MC at around 1:300 the odds were on my side there and went for it - after a looong 2 week wait.  The procedure wasn't too bad - hurt a little, and I was careful to really rest hard the rest of the day (not easy with two little ones!). Bub looked lovely at the amnio scan. Unbelievably I got the preliminary results back yesterday, about 27 hours after the test - all clear.  Best xmas present ever.  There's still another 10 days or so until the final results are back, and I probably won't really rest easy until after the next big scan (if at all!), but I'm glad that so far things are looking ok for us.  The waiting and thinking are HORRIBLE.  I just tried to remember that the statistics were on my side, however dire those numbers looked, and I am so very grateful to be one of the lucky majority.  To anyone waiting - hang in there!  Chances are your news will be good.  Merry Xmas  hheart.gif

#80 Chief Pancake Make

Posted 30 December 2011 - 12:11 PM

Hi,  I am still TTC but have a couple of questions about prenatal  testing that some ladies might have experience with.  I am 34 so will  probably be 35 by the time the stork arrives (fingers crossed) .  Can  you ask your Dr to refer you for a CVS without a high NT result or other  high risk.   NT scan and bloods only give a probability which isnt good  enough for me so I would want to have further testing anyway to get a  definate answer so may not bother with the NT scan.  Also I understand  CVS can be done at 11-12 weeks where as amnio is 16 weeks which if the  result is bad,  is too late for me.  I also understand the risks  involved and that the stats regularly quoted for CVS and amnio are out  of date and very dependant on the experience of the person doing the  test.  

Hope some one can help as there is not that much info out there or people just aren't comfortable talking about it.

#81 sarkazm76

Posted 30 December 2011 - 08:45 PM

http://www.health.qld.gov.au/rbwh/docs/ds-screening.pdf

Not sure where you are but this link looks like it confirms what I thought and that (at least in Qld) you can have amnio/ cvs if you are over the risk age... which is 35 of course.  If it was me I'd just talk to the Dr about wanting to skip 12 week and go straight for invasive testing.  I've considered this myself due to the stress the 12 week screen created!  

One thing is that sometimes the CVS can show abnormal cells in the placenta but these are not actually also found in the baby.  As the placenta should be a direct genetic copy of the baby but sometimes this is not the case.  So amnio is more reliable in that sense.

** SENSITIVE **
Also I was told there would be no difference between CVS and Amnio as far as the method to be used for terminating the pregnancy was concerned (so it doesn't matter how far along you are - they would want to induce delivery.  Although I'm not 100% sure that's the case but that game from the Dr we saw when we got our results from 12wk test and were deciding what to do.

FWIW I had both during my pregnancy and found the CVS experience awful in regards to the physical side of it (very painful) but the US they did before hand was very long and the team were awesome and very thorough and caring.  When I had my amnio it was just one Dr and he was a prick and hardly talked but at the same time the procedure was over and done with before I even realised!  Our CVS results were "inconclusive" for gender on the FISH test and on full results showed 50% X0 (missing Y) and 50% XY but the Y being "abnormal".  We wanted to understand exactly what this meant/ make sure this was accurate so they agreed I could have an amnio as well - they were hoping to find some "normal" Y chromosomes but they didn't so in the end the results was pretty much the same as the CVS.  I only know of one other lady from this forum who also had "inconclusive" on gender but in her case the result WAS confined only to her placenta.... but I think they worked that out from her full results so I guess they can tell when this happens (called mosiacism).  

Good luck original.gif  Hope that helps.


PS... our DS is fine after all that.  He may not be able to have kids and they want to monitor his development around puberty but otherwise 100% ok.

Edited by sarkazm76, 30 December 2011 - 08:50 PM.


#82 ttc3

Posted 30 December 2011 - 09:43 PM

QUOTE (Chief Pancake Make @ 30/12/2011, 01:11 PM) <{POST_SNAPBACK}>
Hi,  I am still TTC but have a couple of questions about prenatal  testing that some ladies might have experience with.  I am 34 so will  probably be 35 by the time the stork arrives (fingers crossed) .  Can  you ask your Dr to refer you for a CVS without a high NT result or other  high risk.   NT scan and bloods only give a probability which isnt good  enough for me so I would want to have further testing anyway to get a  definate answer so may not bother with the NT scan.  Also I understand  CVS can be done at 11-12 weeks where as amnio is 16 weeks which if the  result is bad,  is too late for me.  I also understand the risks  involved and that the stats regularly quoted for CVS and amnio are out  of date and very dependant on the experience of the person doing the  test.  

Hope some one can help as there is not that much info out there or people just aren't comfortable talking about it.


I had a CVS done at 12 weeks instead of the NT scan.  Saying that the scan was as detailed as the usual NT scan anyway including doing the NT measurements.  I just didnt do the bloods or get given my risk ratios.  I chose to have it done based on age alone and just got the referal from my GP.

I found the actual CVS not painful at all just an unusual sensation - like a pap smear from the inside out if you know what I mean.  Biopsy was done abdominally with local anaesthetic.  I had no after effects or complications.  Full results took 14 days to come through.  I didnt opt for FISH results but would have if there were indicators/soft markers on the ultrasound.  (my results were fine) HTH

#83 Maz72

Posted 08 January 2012 - 08:16 PM

Chief Pancake Maker - Just one thing to add to the above information.  You may be able to have the CVS very early.  I was told I could have one around 9 weeks due to my history of having a DS baby.  If this was the case, then even waiting 2 weeks for results would mean there was the possibility for a medical termination - a couple of tablets and have a "regular" early termination, instead of the full labour and delivery.  This varies not only by state but also from one town/city to the next and with public or private providers.  If this was important to you it might be worth asking your GP what they know of those sort of options where you are if you were to discover you were pregnant.

Of course, I really hope you never have to go through what some of us have gone through.  Good luck TTC and with the pregnancy  original.gif

#84 Melly98

Posted 05 February 2012 - 09:21 PM

Hi everyone
I see that its been a while since anyones posted here. Hope you are all doing well.
I have just got my NT results and they are really bad. I am expecting twins. One twin has a NT measurement of 6.6mm and the other twin is 1.8mm. The high reading twin has very high odds of having a chromosomal abnormality. with blood work its comes out as 1:12 for T21, 1:8 for T13 and 1:13 for T28.
I was told not to hold out much hope as the NT fold is so large. I am waiting for an appt. at KEMH where I will under go more tests. I am just really worried about everthing including the survival of my "healthy" twin if the "unhealthy" twin triggers preterm labour.
Not holding out much hope sad.gif


#85 sarkazm76

Posted 07 February 2012 - 10:14 PM

Hi Melly,

Sorry you find yourself here.  I didn't think they did the 12 week testing with multiples because they can't get clear blood work!!!  Though it is true that your NF measurement is not good.... but I've been keeping up with this group for 18 months now and have seen quite a lot of people have the measurement taken again a few weeks later and it's fine.  If you think about the size of the US and the the screen and we're talking about measuring mm's..... even the slightest mistake in measuring can = a mm.  So don't give up all hope.

Will you be able to have an amnio/s?  Do you know if there is increased risk when having further testing with twins?  Ugh, you poor thing - so much to consider.  It's such a worrying time.  Try to take a big deep breath and remind yourself to take it easy.... until you have more info from the Dr's all you can do is hope for the best and hang on!!


#86 Melly98

Posted 08 February 2012 - 01:35 PM

Thanks for the reply sarkazm76
I have an CVS booked for next Tuesday. I am only having it on the high risk twin. I am just taking one day at a time. They said I will have my results in two days, so Thursday.
Is there anyone else going through this?

#87 Maz72

Posted 11 February 2012 - 02:21 PM

Melly98 - sorry to see you here too.  I also check in now and then since finding myself here about 7 months ago for the first time.  I know how worrying it is to be given bad odds and to be prepared by the doctors for the possibility of something being wrong with one of your babies.  I wasn't in the position of having twins though.  

Take some comfort if you can in knowing you are attending a tertiary level hospital with specialist care available.  The big centres are very good at what they do, and also can be better at sensitively handling these situations.  (I know from personal experience.)  The fact you are having a CVS for only one baby suggests that the twins each have their own placenta (?) and therefore will also have their own amniotic sacs - so that may mean it's safer for the other baby just from the testing point of view - and it may also mean that the other baby may be safer in a sense if there is something is found to be abnormal in one twin and you need to make a decision regarding that.  Speak to the doctors/counsellors at the hospital about your particular situation.  I found them incredibly supportive and also very knowledgable.

The only other thing I can think to offer is whatever you are feeling - don't judge yourself for it.  I felt hopeless, while others were telling me to focus on the positives.  The truth is more people have a good outcome than not, but the nuchal thickness is a concern.  Everyone here knows the stress and sadness surrounding this sort of thing and we are thinking of you and hoping for a good result.  Post whatever you need to here - we understand.  hugs to you bbighug.gif

#88 Hairy Maclary

Posted 15 February 2012 - 03:16 PM

Hi ladies,
I got my results today with a risk of 1:120.  
NT was 1.4mm.
AFP = 0.83 MOM
hCG = 1.77 MoM
Maternal Serum AFP: normal range
I've just turned 39, and will be 17 weeks tomorrow.

I originally got results after 12 weeks with an adjusted risk of 1:2010, and dr sent me for further bloods last week.  I'm thinking that the risk I got originally didnt include bloods, even tho I got them done at 10 weeks?  Who knows!  Am awaiting appt for amnio.  Melly I'm also a Perthie and going to KEMH.  Don't suppose u will have yours results just yet tho, hope they come soon for you.

Edited by Hairy Maclary, 15 February 2012 - 03:57 PM.


#89 Melly98

Posted 15 February 2012 - 09:35 PM

Hi Everyone
I am writing to tell you all my results. It may help someone in the future. My news is not good. My "unhealthy" twin will soon die. The fluid has spread around its body and some is in its lungs. the heart isn't beating right. You can really see the difference when you see both babies on the screen.I am going to have another U/S in three weeks to see if the baby has died. The silver lining is that the twins are completey seperated by a thick membrane and the "unhealthy" baby is on top. This means that my healthy twin will not be effected. I didnt do a CVS in the end, there was no point. THe Dr is sure that the bub has Downs or Turners. But the baby is struggling, so the descision of whether to terminate is out of my hands, to my relief. I am just going to let nature take its course. sad.gif

Hairy Maclary
All the best and good luck. The KEMH staff were really kind. My news isnt good. But you had a good NT reading, which I am believe is more important than the blood results. You really have a high chance of good news. At 17 weeks you will have a good scan, as baby is well developed. If you are seeing Prof Jan, shes so nice and you couldn't be in better hands. Good Luck
X

#90 tintin22

Posted 19 February 2012 - 09:07 PM

Melly98 sorry to hear your story. I haven't posted in here for some time but now that I have delivered my twins I can update people  if they are following my story.  We delivered our twins on 16/2 and twin 1 was a healthy 3kg exactly. Twin 2 the one that had two cystic hygromas that disappeared at 20 weeks and showed no signs of DS on scans and not heart problems and a good size on scans was also born. She does have DS (we had a 1 in 15 chance) she also has a major heart defect that will require two open heart surgeries and her weight was 1.4kgs (a month before she was born her scan said she weighted 2kg!). We are very happy to have our beautiful twins with us and now we are starting on the journey as to what support there is out there for us. good luck to you all and please feel free to PM should you be going down this path yourself or have any questions.

#91 keedensmum

Posted 20 February 2012 - 07:29 PM

Hello,
I had my NT scan and bloods last week and at the ultrasound the technician told me the baby looked gorgeous (hard to tell at 12 weeks but anyway!) and that there was minimal fluid behind the neck.  I got a phone call from my obstetrician this morning saying that my overall risk for Down Syndrome was 1 in 140, I am 37 years old and I know at higher risk and I know it isn't 1 in 4 or something but I wasn't expecting that.  This pregnancy is an IVF pregnancy and I had really high progesterone for up to 10 weeks after I conceived (and to tell the truth I still don't know if it is has gone down as they stopped testing) and I have been reading on the interent that with IVF the high risk results are not actually acurate as the ivf can affect the results (hormone stimulation for egg production and higher hcg levels) and that some studies have shown a much higher false positive rate in ivf pregnancies and one article even said this hormone screening for Down Syndrome is not recommended in ivf pregnancies.  Now I am confused as my obstetrician said any risk higher than 1 in 300 they recommend an amnioscentisis and she is telling me it would be a good idea but now I am concerned my results have come through like this as it was ivf.  My ob said there is only a small amount of fluid behind the babies neck on the scan too.  Has anyone any information or experience with ivf and this screening test?  Thanks in advance

#92 tintin22

Posted 20 February 2012 - 09:01 PM

hi Keendansmum, sorry you find yourself here and its natural to be confused. I was not in the same boat as you as we had IUI but I did read some of what you were talking about with the IVF and the fluid behind the neck. We had twins and one had fluid behind the neck however we also read that with twins you shouldn't take the blood test into account because you do not know which twins is producing what result so the bloods are not accurate and can distort the risk score. Our DD had a risk score of 1 in 15 due to two cystic hygroma on her neck - which consequently disappeared by week 20. She was born on Thursday and does have Downs and some significant heart problems - none of which showed on scans. I suppose my advice to you is - if you don't plan on acting on the outcome of a CVS or amino then it doesn't really matter if IVF affects your results - you just don't do any further testing and prepare for what ever outcome you get. I suppose all I am saying is that test don't alway tell you the truth so whether IVF or not you have to take them with a grain of salt. A scan a month before the twins were born said my DD was 2kg - well a month later she was born and was 1.4kg - they expected her to be 2.5kg at that point. The question of an amino is really only if you feel you must know or if you intend on acting on the result - you do not need to ahve the test - we chose not to as we didn't want to risk losing either twin. PM if you want to chat - not sure if I have help at all - sorry!

#93 Justaduck

Posted 21 February 2012 - 09:57 PM

Hi everyone just thought I would update to give hope to those with hugely abnormal blood results.
I am 24 (was 23 when I was 12wks along) so from my age should have had a 1:1100 risk of down syndrome. My NT scan itself looked perfect, but my bloods were through the roof. The HcG was 6.01 MoM, and I think the Pappa was 0.83. Those blood results put me at a 1:207 risk for DS. We decided not to do the amnio, but at that time I was unaware at how huge the hcg was up.
Our baby girl was born on Thursday and has does not have down syndrome. We had a chromosomal blood test done just after birth for our peace of mind (get the results back tomorrow).
I hope that in sharing this it can help some of you with high blood results have some hope that their bubs will be fine and healthy when born.

#94 keedensmum

Posted 20 March 2012 - 06:44 PM

Hi, just wanted to give an update.  My specialist and I decided after the 12 week testing result gave me a risk of 1 in 140 to wait and do 2nd trimester testing and have an integrated result.  (meaning they use the results of test at 12 weeks and 16 weeks to give a new overall risk factor)  AND just got a call that the risk factor for me is now 1 in 950 so the specialist advised more risky to do an amnio then the risk of not doing it, as my papa hormone was 0.27 and he was concerned I might miscarry with an amnio, but no need to worry about that now!
Apparently they don't usually offer the 2nd trimester testing (in Wollongong anyway) but given my papa hormone was low the specialist thought it was worth doing and I am glad we took this option as the risk is greatly reduced.  Best wishes to everyone xo

#95 Bec234

Posted 27 March 2012 - 11:10 PM


Hi Ladies..

So i am happy to find this forum here as its nice to talk to people that are or have been through the same thing..

So i am 24 and pregnant with our second bub and i am 15 weeks. Our NT results came back to put bub at High Risk of DS 1:219
Soooo wasnt expecting that!
Good news was the neck measurement was fine its just my blood test that came back wrong.

Anyway.. isnt it amazing what you think you would do if ever faced with this and what you ACTUALLY end up doing/feeling can be so different..
We have decided to get the amnio done. At the hospital they cant get me in untill i am 17w3d sad.gif Which will be Friday 13th April (the day is lucky for some right!!??)

So now is the sit and wait.. gahh... Not really asking anything of anyone here.. just wanted to post..
Thanks for reading..

#96 abstermummy

Posted 04 April 2012 - 01:14 PM

Hi and it's been positive to see such great outcomes from nervous beginnings.

I have a 2 1/2 year old and we are now 14 weeks pregnant with ur second.

My first I has a high risk result of 1:150 with a low Papp-a of 0.15 MoM bring this result. We chose not to have an amnio that time around after doing much research and deciding that we'd just wait and see.

However last week I got my NT results back for this pregnancy and the results were even worse which I did not expect.

1:2 risk of DS
1:58 risk of trisomy 18
Papp-a 0.08 MoM
hCg 1.86 MoM
Nucal Measure 1.8mm

Worst thing was my Husband was away with work and I had to take my son into the medical centre with me oblivious to what the results were and completely broke down and scared him too!! poor thing.

I was in pieces for the first 3 days and every time I thought or spoke about it I just broken down and was worried I was effecting the pregnancy even further.

Amnio book in for next week. I am hoping that it's just something that I am prone to with low Papp-a and unsure what we will do if the results come back negative.

Can't focus on work so have taken the time off until I get the FISH results - also spending quality time with my son which has kept me positive as he is so perfect.

Oh well - fingers crossed - just wish there was something they could do to stop the wait as It's so mentally draining and has put me into a state of depression. I don't even talk of the new baby anymore for fear of building up too much hope and feel disconnected with this pregnancy.

Anyone had simular results they want to share??




#97 roses99

Posted 04 April 2012 - 01:41 PM

It's been a long time since I've been in here, but just wanted to wish you all the best abstermummy.

Like you, we had a high risk result with our first (1:134 for DS) and, like you, opted for no further testing. DD was born safe and well almost two years ago.

I do remember there was someone, or maybe more than one person, here on these boards who had a 1:2 risk factor for Down Syndrome and ended up having a healthy baby.

If I were you, I think I'd be terrified as well. BUT, I would be taking heart from the nuchal measurement. Personally, I'd rather have dodgy bloods than a dodgy scan, because there are many things that can affect the blood results. Were there any other soft markers on the scan? Could they see a nasal bone? Could they see the cord insertion?

We very much came to peace with the possibility of our baby having Down Syndrome. With early intervention these days, the outlook for a child with DS is excellent. Many young people with Down Syndrome will grow up to live relatively independent lives. You probably know all that, having been through all this before. Trisomy 18, on the other hand,  is a much scarier proposition. But you'll cross that bridge if you come to it. And hopefully you won't!

I'll be thinking of you.

#98 wallofdodo

Posted 04 April 2012 - 02:02 PM

I have been there, 1:2 for T21 & T18. But just to reinforce what the PP said the fold measurement was over 7mm and there was no nasal bone present.

The measurement on your NF is small.

Good luck it is such a tough time. Hug your little boy a lot, that got me through it.

Edited by wallofdodo, 04 April 2012 - 02:03 PM.


#99 abstermummy

Posted 04 April 2012 - 06:11 PM

Thanks wallofdodo and roses99 for your messages of support.

Yes scan was perfect. good heart beat, nasal bone and cord attached - also all limbs looked ok. So I am hoping it is an issue with the placenta as before. Just wish there was something you could take to fix it.

I'll let you all know how I go next week. x

#100 myli2lsnowflake

Posted 05 April 2012 - 07:03 AM

hi All ,

i'm new to this thread but i'm so glad that i have found this, reading your stories is giving me some hope. last week i had my Nt Scan and came high risk for DS 1:187 and Edwards 1;28. My hcg was 0.4 and my papp-a was 0.15.i've cried my heart out now i'm just numb trying to be strong as we have other kids who need us. i just feel so lost and alone as no one we told has even hear of Edwards. i'm booked for amnio on the 24th but it seems so far away and then the wait for the results....... i really dont know how i'm going to make it, i know my odds are not good but. i have to have faith that my little snow flake will be fine.... this was an ivf pregnancy, we waited 3 years for it and this was the last this we expected............i'm so sorry if i'm venting ................is there some one there who can explain a bit what it all means......

Edited by myli2lsnowflake, 06 April 2012 - 06:09 PM.





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We've scoured the internet to find gorgeous personalised keepsakes and nursery decor to record baby name and dates. They make great gifts for christenings, name days and birthdays! (All prices in AU.)

 

Mind, body, beauty, life

Making time for me

We look at your wellbeing, covering health, relationships, beauty and fashion, mind and body.

 
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