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Support for High Risk NT Results #45


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#51 Bek&H

Posted 15 April 2015 - 09:43 PM

Hi Molokai,

I also got a high risk for trisomy 18 & 13 due to low Papp-a and beta hcg, my numbers where a quarter of what they should be, the Nuchal fold was measured at 2.9 which I don't think is that high? I have a 1:23 and 1:103, I'm only 25 and my last pregnancy nothing like this happened so it's all very scary!  

My doctor recommended the blood test as he said it was a 94-96% chance that everything was fine, so that was reassuring I guess.

I got that done last week & should have the results either tomorrow or the next day. The waiting is the worst part, it's been hell not knowing if everything is ok or not & like you I was told that even if it comes back as fine that I still have to be heavily monitored for the rest of the pregnancy due to the Papp-a being so low.

It's all very scary isn't it? :( I'm so nervous about the results, I really hope they come tomorrow, Ive been waiting a month now to get answers. First the Nuchal scan results were delayed, then there was a wait to see the private doctor, then I did the blood test but the tube broke so I had to go back and re do it again the next day. It's been one drama after another & such a stressful month!

I've heard a lot of positive stories about the screening tests being totally wrong and people having healthy babies with even higher odds than we have had (my doctor told me of a lady who had a 1:2 and one with a 1:5 who were fine) so let's try and remain positive that we will be lucky and have good results!!

Hope you are doing okay Xox

#52 Molokai

Posted 17 April 2015 - 02:14 PM

Hi Bek&H, thanks for replying.

I hope your results are back and are all good. The waiting and not knowing is the worst. And you've had so many dramas already!

We received our NIPT results yesterday and they were all clear. So far we are releived, but still cautious. The amnio is in a week and a half, I'm waiting for the outcome of that before I let myself get excited about this pregnancy.

My Ob is worried about one more potential issue that could be causing the low PAPP-A (triploidy) but if the amnio rules that out, then the outlook should be pretty good. And apparently its pretty rare.

I am keeping my fingers crossed for both of us xx

#53 Bek&H

Posted 18 April 2015 - 03:44 PM

so happy for you that your first set of results were clear, that must be a small sigh of relief! Good luck for the amnio, I know what you mean about not wanting to get attached to the pregnancy whilst in this horrible limbo of not knowing if everythings okay, it's the worst feeling ever, I really hope your amnio goes well and you get the all clear from those results too!

How low was your papp-a? Mine was also very low but my doctor isn't overly concerned about it he just wants to monitor growth more closely now.

I got my results back yesterday, we are in the clear for any chromosonal abnormalities, everything looks perfect in that regard and we also found out we are having a baby boy which is very exciting.

I am praying that you also get a happy ending, keep me updated and feel free to message me if you need to chat, I know how difficult all of this is xoxo

#54 sweetsunshine

Posted 20 April 2015 - 05:13 AM

Sorry to hear you are going through such a stressful time, Molokai. I can't help as my situation was the opposite to your a - high nt (3.3mm) but good bloods. However, I do know how sickening and overwhelming it is to be waiting on tests. Is this your first? I hope ye get some good news, I check in here from time to time, it is v quiet though. Take care x

#55 Seldunny

Posted 27 April 2015 - 02:42 PM

View Postreadyandraring, on 04 March 2015 - 02:49 PM, said:

Hello,

I just popped in and saw your post, I was high risk at my 13 week scan also. The scan and the bloods were high for me for all three trisomies. I had an amnio at 16 weeks and fortunuately everything came back clear.

I had a follow up scan at 20 weeks to double check the heart and I am scheduled to have another at 24 weeks but things are looking all fine.

Let me know if you have any questions.

Good luck

Hi I was wondering what your Nuchal fold measurement was? I'm 1:2 for DS 1:40 for trisomy 18 & 1:25 for trisomy 13 my measurement was very high though at 9.7mm. Baby is healthy heart is fine & nasal bone formed & the digits & limbs look just fine. I'm so confused..

#56 Seldunny

Posted 27 April 2015 - 02:45 PM

View Postreadyandraring, on 04 March 2015 - 02:49 PM, said:

Hello,

I just popped in and saw your post, I was high risk at my 13 week scan also. The scan and the bloods were high for me for all three trisomies. I had an amnio at 16 weeks and fortunuately everything came back clear.

I had a follow up scan at 20 weeks to double check the heart and I am scheduled to have another at 24 weeks but things are looking all fine.

Let me know if you have any questions.

Good luck

Hi I was wondering what your Nuchal fold measurement was? I'm 1:2 for DS 1:40 for trisomy 18 & 1:25 for trisomy 13 my measurement was very high though at 9.7mm. Baby is healthy heart is fine & nasal bone formed & the digits & limbs look just fine. I'm so confused..

#57 Razzberry

Posted 06 May 2015 - 05:20 PM

Seldunny how far are you? My first daughter had a high nuchal measurement of 3.4 I think but my daughter Ava Grace who I gave birth to and died at 15.3 weeks had a 9.4mm cystic hygroma. At first it looked like a high nuchal measurement but then they could see it was actually a cystic hygroma. It is incredibly scary when they give you all the stats. Have they suggested an amnio or CVS? I had the NIPT and CVS clear us for chromosome issues andd her heart was fine too.

So I guess I'm saying that I have one daughter where everything turned out ok and she was born happy and healthy but I have also lost a daughter too. Her blog is www.babyjcystichygroma.blogspot.com.au if you want to read it.

I will be praying and hoping your baby is ok.

#58 aqualime

Posted 10 May 2015 - 01:31 PM

Hi All,
I just stumbled upon this post and i am so relieved to find a post of people with similar experiences both good and bad.
I'll apologise in advance for my long post but feel i need to start at beginning and explain our situation.
We have a healthy 3 year old daughter and have been trying for 2 years to get pregnant. we finally went to see a chinese herbalist/acupuncturist and did cycle tracking with ivf aus and got pregnant naturally first month! (that was about the end of our good news)..
as we had been cycle tracking we knew exactly when we ovulated and they continued tracking our bloods after we get pregnant which showed that we need progesterone pessaries to assist the pregnancy and that our hcg was rising super slowly (doubling every 3 days) so we got checked for ectopic and got the all clear but the baby was dating 5w instead of 6w like it should have been from the tracking. so a follow up scan a week later showed the baby had grown a week in a week and had a heartbeat so finally a sigh of relief and a follow up scan two weeks later showed good growth for two weeks and a strong heartbeat.
as we had so much trouble falling pregnant we booked in for the full nipt and results came back inconclusive due to low metal fraction, so a repeat test would be needed.
we went and did our nt which showed a healthy baby and we were over the moon, finally time to tell everyone the good news!
the next day we got the call from the doctor as our blood results from the nt were back and they were no good :(
NT 1.6mm
free beta HCG 2.09MoM
Papp-a 0.17Mom
so risk
trisomy 21 1:151
trisomy 18 1:945
trisomy 13 1:263
we booked in for the second nipt and after another agonising week and a bit we got the all clear for the trisomies but got put high risk 1:19 for a micro deletion cir-du-chat syndrome (which the doctors would recommend a termination for), it seems to be very rare approx 1:25,000-1:50,000 pregnancies so hard to get similar experiences.
so another week or so of waiting and we had our amnio at 15 weeks, the doctors were pretty negative as the micro deletion section of the nipt is so new they don't have a lot of extra info on it.
so anyway today i am 16w with another week of waiting to go till we get our results from the amnio/microarray but i have to admit, this has been the most anxious, isolating & upsetting past couple of months and its really hard to stay positive as the weeks pass by.
the genetic councillors/doctors have been a lot more positive but no one is willing to tell us that even if we get the all clear we will move to a low risk category and it seems there will still be a cloud of doubt over our pregnancy and we will just keep looking closely at all scans and hoping for the best.
i just really hope we get good results from the amnio and we are one of the lucky ones that gets to have another wonderful healthy child in their family.
i hope you are all doing well in your pregnancies and its nice to know there are people here that understand
Lauren xx

#59 Seldunny

Posted 10 May 2015 - 02:15 PM

View Postaqualime, on 10 May 2015 - 01:31 PM, said:

Hi All,
I just stumbled upon this post and i am so relieved to find a post of people with similar experiences both good and bad.
I'll apologise in advance for my long post but feel i need to start at beginning and explain our situation.
We have a healthy 3 year old daughter and have been trying for 2 years to get pregnant. we finally went to see a chinese herbalist/acupuncturist and did cycle tracking with ivf aus and got pregnant naturally first month! (that was about the end of our good news)..
as we had been cycle tracking we knew exactly when we ovulated and they continued tracking our bloods after we get pregnant which showed that we need progesterone pessaries to assist the pregnancy and that our hcg was rising super slowly (doubling every 3 days) so we got checked for ectopic and got the all clear but the baby was dating 5w instead of 6w like it should have been from the tracking. so a follow up scan a week later showed the baby had grown a week in a week and had a heartbeat so finally a sigh of relief and a follow up scan two weeks later showed good growth for two weeks and a strong heartbeat.
as we had so much trouble falling pregnant we booked in for the full nipt and results came back inconclusive due to low metal fraction, so a repeat test would be needed.
we went and did our nt which showed a healthy baby and we were over the moon, finally time to tell everyone the good news!
the next day we got the call from the doctor as our blood results from the nt were back and they were no good :(
NT 1.6mm
free beta HCG 2.09MoM
Papp-a 0.17Mom
so risk
trisomy 21 1:151
trisomy 18 1:945
trisomy 13 1:263
we booked in for the second nipt and after another agonising week and a bit we got the all clear for the trisomies but got put high risk 1:19 for a micro deletion cir-du-chat syndrome (which the doctors would recommend a termination for), it seems to be very rare approx 1:25,000-1:50,000 pregnancies so hard to get similar experiences.
so another week or so of waiting and we had our amnio at 15 weeks, the doctors were pretty negative as the micro deletion section of the nipt is so new they don't have a lot of extra info on it.
so anyway today i am 16w with another week of waiting to go till we get our results from the amnio/microarray but i have to admit, this has been the most anxious, isolating & upsetting past couple of months and its really hard to stay positive as the weeks pass by.
the genetic councillors/doctors have been a lot more positive but no one is willing to tell us that even if we get the all clear we will move to a low risk category and it seems there will still be a cloud of doubt over our pregnancy and we will just keep looking closely at all scans and hoping for the best.
i just really hope we get good results from the amnio and we are one of the lucky ones that gets to have another wonderful healthy child in their family.
i hope you are all doing well in your pregnancies and its nice to know there are people here that understand
Lauren xx
I wish you all the very best of luck & I'll say a little prayer for you. I wouldn't wish what I went through on anyone it is devastating to having something so special taken away from you without even being able to fight for it or to make it all better.

#60 Jacksmummy4

Posted 10 May 2015 - 07:18 PM

Aqualime, I also had a micro array done on my amnio. At the time we were 1:24 for DS and only had the Micro array done as an added extra. We were negative for the DS, however it came back that our Gracie had a micro deletion on Chromosome 15. Ours also being rare it doesn't even have a name, only MD1511.2q. We were advised to terminate as it was to do with brain development and Gracie could be born quite disabled. In the end we decided to continue with the pregnancy and our beautiful girl who is now 16 months is perfect. Sure she has her slight delays. She isn't walking yet, but VERY close.
Just make sure they give you all the facts about how big the deletion is, how it might affect bub before you make any decisions. And research, research, Research as much as you can xxxxx

#61 aqualime

Posted 10 May 2015 - 08:23 PM

I'm sorry to hear that it didn't work out well for you seldunny and i totally understand as its so frustrating that everything is all out of our control and all you can really do is wait.

thanks jacksmummy4 i can only imagine how anxious you would have been for the remainder of your pregnancy with so much uncertainty but its always great to hear positive stories and it sounds like your little girl is doing great!
and yes, i have been doing so much research and investigations its almost driving me bonkers and if it does turn out that we do have a micro deletion the first question i was going to ask was how big and anticipated effects (I'm big on details and questions).
the genetic doctor did warn us that it is very common to have small deletion you weren't expecting to come up from a microarray and if so that she will look into them before giving us our results.

I just hope it turns out to be a whole big scare and we get to finally enjoy our pregnancy & look forward to meeting this bub :)

#62 Jacksmummy4

Posted 13 May 2015 - 05:04 PM

That's the right attitude to have Aqualime. A great website is Unique. They had a ton of information on different chromosomal disorders.
One thing our genetic specialist said to us was if they were to test the general population, they are pretty sure that a high percentage of people would come up with a deletion or duplication and they lead perfectly normal lives. :)

#63 Lulu82

Posted 20 May 2015 - 02:36 PM

Its quite comforting to have read some of your stories.  As days go by I'm getting more and more anxious, so felt compelled to post here.

We are 14 weeks with twins.  Twin A has come back following the NT with a risk of 1:2500.  However Twin B has been classed a high risk at 1:219.  We are currently awaiting results of further blood testing to come back from the US (any day now!).

In the NT scans I was told that nothing caused any concerns, nasal bones present in both, and nuchal fold measurements of 1.6 and 2.5 which was apparently fine, so that is why the ultimate results have knocked me for a six.

Being twins, we've been told though that the results could still come back as a false positive, and to consider an amnio.  Apparently there are additional risks in doing this than in a single pregnancy.

I've already had to change doctors (previous Dr refused to refer for an amnio based on his own personal / religious reasons).  So the whole thing has been very stressful, and I'm finding myself more and more anxious the longer we need to wait.  This could just be the beginning though, if we still end up going through an amnio.

Anyone been through this with twins?

#64 aqualime

Posted 20 May 2015 - 06:27 PM

Hi Lulu82,
Sorry that you are going through this also.
Hope you don't mind me asking a few questions but looking at your post i would assume that the higher risk for twin b was only due to the slightly higher nuchal measurement as if your serum blood results made you high risk it would affect both twins.
do you know what your risk for age was in comparison to your overall risk?
are you in sydney? i have just had my amnio completed at ultrasound care which were really great and they have genetic counsellors that can explain your risk to you.
We are awaiting our results as we are high risk for a micro deletion so the results take up to 3 weeks but if you are high risk for a trisomy there is a quick test called FISH that they do with the amnio in conjunction with the micro-array that gives you results in 48 hours!
i really hope you get good answers soon and you can relax and enjoy your pregnancy

#65 Herewegoagain#3

Posted 11 June 2015 - 07:53 PM

Hi ladies,

I had a high risk NT scan 2 weeks ago (1:45). We opted for a CVS straight away and got the results the next day that there were no chromosomal abnormalities - phew!

But I can't help wondering if maybe the high NT measurement (3mm) is a sign of some other abnormality. The OB was particularly concerned at how far along the back the fluid went when he was measuring it.

Has anyone had the NT scan be an indicator of other abnormalities?

#66 Mccab

Posted 21 June 2015 - 08:57 PM

Hi,
I'm not sure if I am posting in the correct place so please let me now if I'm not. At my morphology scan 2 soft markers CPC ( Choroid plexus cyst) and a echogenic structure were found. They are thinking Trisomy 18, I had the NT scan and my risk for T18 was 1 in 20,000. I have an appointment with a feto maternal specialist at Liverpool hospital on Thursday but no one has told me what they will be doing, I am assuming it will be an amino ? I was just after advise from anyone who has been in this situation. Thanks.

Edited by Mccab, 21 June 2015 - 11:12 PM.


#67 Merls

Posted 05 August 2015 - 02:50 PM

Hi all,

So I've spent the last 3 hours reading posts dating back to 2013 and how my heart breaks for some of you.

I'm here because I'm now in a similar position. After TTC through ovulation induction for the past 3 1/2 years, falling pregnant 3 times and having m/c, we finally fell pregnant on our own after a holiday in Fiji (always happens that way). My husband always said this baby was a fighter and a stayer. I'm now 14w4d, I went for my NT scan 2 weeks ago (at 12w3d) and had some bad news. My results were as follows:

Nuchal - 1.96mm
Nasal bone present
Heartrate: 178bpm

Bloods (done at 9w4d)
Free beta HCG  0.58 MoM
PAPP-A 0.44 MoM

Background risk
T21 - 1:223
T18 - 1:552
T13 - 1:1729

Adjusted risk
T21 - 1:3905
T18 - 1:3511
T13 - 1:50

We've decided not to go ahead with the amnio unless there are visible soft markers that would indicate a need for it. I'm booked in for a scan next Tuesday.

Hubby still thinks this baby is a fighter and a stayer and that there is nothing wrong - basically telling me to get over it (not as harsh as that sounds lol), but I'm struggling to cope with the fact that things may not be ok. I don't like to talk to him about it anymore :(

Edited by Merls, 05 August 2015 - 02:53 PM.


#68 sweetsunshine

Posted 09 August 2015 - 08:16 AM

Hi I postwd here a few months back with high NT measurement of 3.3mm. I'm 37 weeks now so nearly there. Our anomaly scan didn't show anything at 21wks and we opted not to do any further tests/amnio. Getting close now and although I don't spend a lot of time thinking of the possibilities, I'm aware that the worry about the baby is in the back of my mind and in my subconscious.
I can't remember names to reply to individual posts here and I'm on my phone so its hard to look back. Just wondering how everyone is doing?
To the person who said she can't talk much to her husband/partner - I understand this. My husband is fantastic but the way he works is he basically says "it'll be fine". He doesn't really want to talk about it, which I understand. I've been amazed at reactions some friends had- I nearly fell out with a close friend for an insensitive joke she made about having a thick meck, took me ages to try to see past that (she didntmean harm, it was just a stupid thing to say).
Anyway, sorry for the ramble, hope everyone is doing okay x

#69 Bek&H

Posted 09 August 2015 - 09:49 AM

Just thought I'd update my story. Unfortunately it did not end well for my baby.

I had high risk nt results, very low Papp a and beta hcg, a 1:21 risk of pataus and a 1:121 risk of Edwards. His Nuchal fold was a little too thick though I can't remember the exact measurement it wasn't ridiclously off the charts.

His growth and heart rate seemed fine at this point so I was recommended to do the genea test (like the harmony test) to rule out the main trisomys. My results came back negative and we thought we were in the clear, we also found out he was a boy.

At the 20 week scan I noticed they focused a lot on his heart, I kept asking what was wrong and they said he was in the wrong position and nothing to worry about, I had to go back the next day for another scan where they focused on his heart again.

A few days after that I got a call from my ob, he told me he was referring me to the foetal medicine unit and John hunter for a detailed scan as there were a few abnormalities, but he still reassured me that everything was probably fine.

A week later we went to the detailed scan, I was now 22 weeks along. As soon as she begun the scan I knew it was over. She said "see his brain, see how it is not the right shape?" And yes, I saw, it was the shape of a peanut rather than a nice round circle, she then showed me his little heart, which was on the right side of his body instead of his left, his ears were low set, his head had the characteristics of Edwards syndrome, no diaphragm was seen.

My baby had no chance of survival and they were surprised my body had not naturally miscarried, I had an amnio which was horrible, to try and find out the cause. They have also since done an autopsy. To this date we still have no answers, the doctors said we might never get answers, that sometimes these things just happen, sometimes your body holds on when it's meant to let go.

At 23 weeks I was induced for a medical termination, I birthed my beautiful son just after midnight and he took his first and last precious breaths in my arms. He was beautiful.

I know my story is not the happy ending that most of you searching these forums are looking for, the reality is that some of you will end up in the same situation as I did, just know if you are going through it there is someone here who understands. If any of you want to chat about anything or want to know the process I had to go through im more than willing to offer any info you might need, I know how desperate I was for information during my ordeal and how alone I felt, so I am here for anyone who needs it.

xox

#70 bees-knees

Posted 09 August 2015 - 10:27 AM

@sweetsunshine I just wanted to say I hope you have a peaceful few weeks and that your baby is well. If he/she does turn out to have Down syndrome, and you'd like to have a chat about this, please feel free to pm me. I have a 6yo with Ds, and I'm involved in several Facebook groups, for parents of kids with Ds, so could hook you up with someone local to you if you were interested.

#71 sweetsunshine

Posted 12 August 2015 - 11:59 PM

Beesknees Thank you so much for your kind offer. I'll update after baby is born and let you know, thanks again x

Beck&hh I'm so so sorry for the loss of your little baby boy. It must be heartbreaking. Thinking of you and wishing you the best xx

#72 Jacksmummy4

Posted 15 August 2015 - 03:47 PM

I'm so sorry to hear of your loss Beck&hh. I'm sure you have done what is right for your son. He will forever be watching over you xxxx

#73 lulu32

Posted 18 August 2015 - 02:34 PM

hi everyone. when I was going through a high risk pregnancy I used to like hearing stories of others who now had completed their journey through these hard times. so I thought I would post my story.

we were expecting amother baby in April this year and when I was 11+ I had a nuchal scan completed which showed our baby had a 5.1mm nuchal translucency measurement. I knew this was quite large (99th percentile ). we travelled 4 hours away for a second scan which confirmed the measurement and saw a GP who gave us some options on how to navigate our journey. she told us that we had a 1% chance of having a thriving baby and our world crashed (she was so wrong with her stats by the way).

We were seen the next week by the high risk clinic at Women's and Children's in Adelaide and we're given some very positive stats and realistic situations we may face. I had a CVS done and met with the genetics team also.

the wait between that day and when the results came through (9 days) were quite.possibly the longest days of my life where I still don't know how I got through. but I did and the results came back with no abnormalities found in the chromosomes. we then decided to have a detailed morphology Scan and echo of baby's heart at 19 weeks as we were informed that a major structural heart defect may present.

We hadn't told many people that we were expecting and it was such an isolating and lonely time. at the Scans we met with the specialists again and after a full day at the hospital went home elated that our baby was looking very healthy and took home a 10% chance that something may surprise us at birth.

Shoot to 39+4 and after a 40 minute labour I have birth to my healthy baby girl (we didn't know her sex despite all the testing). she is now 4 months old and a beautiful chubby darling girl who is as cheeky as ever and healthy and thriving.

love to you all xxx

#74 sweetsunshine

Posted 27 August 2015 - 05:14 AM

Lulu32 congratulations on your baby! And its so lovely to hear a positive story. I wish medical professionals wouldn't give out inaccurate information and act like it is fact, it adds hugely to stress at an already difficult time. I'm currently 39+2 with our second, nuchal fold was 3.3 mm. Told by one doctor we had no chance of a healthy baby. It certainly changed my experience this time around. We didn't get any further testing but i guess we'll know soon! Delighted for you and thanks for posting x

#75 lulu32

Posted 28 August 2015 - 05:13 PM

sweetsunshine thinking of you and bubs xx I still can't believe the personal trauma we went through but it all seems worth it now that our baby girl is here xxx




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