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Support Group for High Risk NT Results #44

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#26 suline

Posted 23 November 2013 - 07:30 PM

I had my scan and cvs done at women's imaging subiaco. It's a private clinic, but I was told my NT results straight away and booked in for a CVS the next week no problems. It is one of the more expensive places, but the Ob who runs it is head if fetal- maternal medicine at KEMH. I had a bit of cramping for about 12hrs after the cvs and no further problems. I got the quick results less than 48hrs later (chromosomes normal). Best wishes .

#27 kiwimum2b

Posted 24 November 2013 - 01:41 PM

Thank you both for your replies..I am off to my gp tomorrow to discuss getting a cvs done.
I can't wait for 3 weeks for an amnio (if what I've read is right about waiting til 15/16 weeks) and really would rather have answers now.
Thanks also for the cost breakdown :) appreciate it. Will def be following up and have all fingers and toes crossed all this worry is for nothing!

#28 flyingdaisy

Posted 25 November 2013 - 08:16 PM

hi kiwimum,

How did you get on with the doc? Were you able to book in a CVS?

#29 Penny-Lane

Posted 27 November 2013 - 10:14 PM

I'm having my amino done at King Edwards Perth next Thursday, I found out on the 15th after my scan that I have a 1 in 25 chance of downs which was very scary this is my first baby and I'm only 22 so I didn't even think downs would be a problem.. It's nice to read peoples positive stories as i struggle to feel positive with such bad odds..

#30 kiwimum2b

Posted 03 December 2013 - 09:59 PM

Just popping in for an update..
I did book in for a cvs..we turned up and had a scan, baby looked great...specialist was looking over my notes and said that something was off and if I didn't mind waiting, he wanted to run the numbers again.
Well he was right!!!!!!!!! The ultrasound place had measured the baby wrong!!!!! This and the the bhcg etc was what mad my risk so low. They had me measuring a week and a day ahead, where I was back to measuring right to date.
My REAL risk based on ACTUAL measurements had me at 1:629 not the 1:55 I had originally been given! So no need for cvs or amnio, I have a rescan in 2 weeks with the specialist just so he can be super sure, but he said that the baby is perfect. That there is a small window for error in the risk analysis, and that is human error. That unfortunately because someone didn't do their job, we went through the week of hell! He also told us that because he like to re do the numbers if something looks off, the % of ppl needing cvs/amnio there has dropped from 7% to 2%...amazing really...
So fantastic news for us...
Thanks for the replies..it really helped push for the cvs and in the end saved me from an unnecessary procedure.

Good luck penny-lane!! I hope that all turns out well for you and your baby, and you can go on to have an uneventful pregnancy.

#31 Justaduck

Posted 03 December 2013 - 10:20 PM

Wow that is amazing news kiwimum! Must be such a relief to have heard and you know you are going to a good honest Dr for disclosing that info to you and preventing you from going through unnecessary further testing.
Fingers crossed all further scans look great and that is the end of your worries :)

#32 flyingdaisy

Posted 04 December 2013 - 07:00 AM

That's great kiwimum, wishing you all the best for a low stress and straightforward remainder of your pregnancy and a healthy bub!

Penny lane, good luck with your amnio tomorrow. Are you getting FISH results? Was it your bloods or NT that made you high risk?

My amnio and fetal anomaly scan is next Monday so I know exactly how you're feeling! My risk was only 1:264 for downs but due to 5mm NT both sonographer and OB give bub only around 50% chance of being free of all chromosomal, syndrome and structural problems.

Such a devastating experience to go through hey..

#33 kiwimum2b

Posted 08 December 2013 - 08:45 PM

Just popping in to say good luck for results and tests :)

#34 flyingdaisy

Posted 08 December 2013 - 08:51 PM

Thanks kiwimum, I appreciate it! So hoping I'll get some positive news from ultrasound tomorrow and FISH results on Wed.

Edited by flyingdaisy, 08 December 2013 - 08:51 PM.

#35 flyingdaisy

Posted 09 December 2013 - 09:29 AM

Just to update,
Ultrasound was totally normal. Nuchal measurement was 3mm (under 6mm is normal for 16 weeks). A positive first step!
FISH results should apparently come in tomorrow. Hopefully good results!
Lovely to have such support from strangers!!

#36 kiwimum2b

Posted 09 December 2013 - 09:36 AM

That's great flyingdaisy! My fingers are crossed for you and penny lane getting good results :)

#37 Xiola

Posted 17 December 2013 - 10:30 PM

Hi everyone, it's been a long time since I've been in here, my DD is nearly 2.5 now but I sometimes pop in in case my experience can help anyone out.


I'm wondering if anyone has just had really low Papp-a and then received good news genetically, and has gone on to have a healthy bub without IUGR, which is my next fear.

I've also experienced frequent spotting since 5 weeks, so I'm wondering if this is a factor in my papp-a being so low, I think i've read a few times people say this, but I can't find any medical confirmation of it online (medical studies etc).

I'm struggling to find much information around IUGR beyonds, low birth weight, potential premature birth, potential heart problems and pre-eclampsia. Does anyone know anything about how IUGR effects the baby after it's born? Does it effect mental capacity?

nutmeggy - I had really low papp-a and hcg too and eventually we got great results however DD did have IUGR.

I bled heavily for a week after receiving my results (1:4 for T13, 1:27 for T18) however scans showed DD behaving normally and no sign of the bleeding could be found.  When I had my amnio however 4 weeks later, my amniotic fluid was a very dark brown colour, badly stained with old blood.  My Dr said that this was the reason for my low papp-a and that there is a link between first trimester bleeding and low papp-a results.  I did read some medical studies on it the time, it's certainly not a myth but perhaps not a commonly known link.

As for the IUGR, DD was induced at 37 weeks after a month of very low growth (I had monthly growth scans from 15 weeks).  She was 46cm and 2.28kg.  She struggled to maintain her blood sugar levels after birth and was difficult to breastfeed due to her tiny mouth and she would also just become exhausted so quickly.  I pumped like crazy to get my milk to come in and after feeding her formula with a supply line (she sucked on my finger to keep the sucking reflex strong while feeding) she finally started breastfeeding fully after we went home on day 7.  She was quite slow to grow at first but at 2 she was 50th percentile on the charts for both weight and height and is developmentally perfect ;)  

I hope this helps a bit and I'm sorry that you're all going through this, I remember all to clearly what a stressful time it is.

#38 alexis243

Posted 09 January 2014 - 02:09 PM

Hi ladies,
I posted back in the #43 thread when I had a high risk NT result last year, I wanted to update, and tell my story, hopefully it will be of use to someone down the track who is desperately trawling the internet for info like I was.

This are my stats from my 12 week ultrasound:

Free beta hcg: 65.0
PAPP-A 0.300

Nuchal translucency: 3.9mm

Background risk of trisomy 21: 1:904
Adjusted risk of trisomy 21: 1:2

Background risk of trisomy 18: 1:2094
Adjusted risk of trisomy 18: 1:25

Background risk of trisomy 13: 1:6599
Adjusted risk of trisomy 13: 1:50

Nasal bone present.
There is a two-vessel cord. No further soft markers for trisomy are detected.
The placenta is posteriorly positioned and low.

Like everyone here, I was stressed and upset, I opted to go with the CVS test, which during the test they were not able to perform because of the way my cervix was positioned.
Another wait, this time for an amnio.

My amnio results came back. Trisomy 21, 18, and 13 were ruled out.
But my baby's results were a Turner Syndrome Mosaic, XO/XY.
After many specialist appointments, I was still none the wiser on what to do, the geneticist told me that it was such a broad spectrum, the baby may be fine, or could have any or most of the following: heart problems, renal problems, short stature, gonad dysgenesis

We were at a loss what to do. I had never heard of this type of thing before, and didn't want my baby having any form of severe health problems holding him/her back in life.
Nor did I want a little girl/boy with deformed genitalia having to carry that emotional burden. Or, I had heard that at birth, if the doctors could not find out what sex the baby was, we'd be asked to nominate a gender.. It was all too much.

One day I just broke down, I had been researching my a$$ off, and by this stage we had had numerous ultrasounds and appointments. I cried the whole day straight.

The next morning I woke up, and I was just certain that I wanted to continue the pregnancy. This baby had fought so hard already. The geneticist told me that only 3% of turner syndrome babies make it this far. I couldn't give up hope.

By this stage, we were able to see genitals in ultrasounds. My sonographer said she could clearly see well formed female genitals. Heart seemed fine, so did kidneys.
Every two weeks from then we had an ultrasound, and each time, all looked well. Things were looking up.

I gave birth to my baby girl in October. When she was born I forgot that we even had potential issues to look out for. It wasn't until my OB remarked that he could not see any turner syndrome markers that I remembered! She was perfect, a little girl!

Two weeks later she had an ultrasound of her pelvis and no streak gonads were found. She is shortly going to have a blood test to test her own body for turner syndrome. But you wouldn't even know, even if she did..

I write this because I do want people to hold out hope and stay strong, and at the time of having a high risk NT, there is so much emotional stress, but remember things work out.
If you feel that you need to terminate, that's your personal choice, a tough one, I respect that.
But if you decide to continue, I hope my story helps in some little way. xx

#39 Mrs Miller

Posted 23 January 2014 - 03:53 PM

Hello, I am 28, live in Perth and am 16w3d pregant with my second. I spent alot of time on EB 3 years ago while pregant with my first but this time round have been busier, working full time and parenting. I also found when I was 5w pregnant that the owner of our rental was selling and so just last weekend have moved house (I hope never to do that again - it was soooo stressful).

Made more stressful by the fact that on NYE, 23 days ago, I had my 12w scan (I was actually closer to 13w though) at KEMH here in Perth. The scan went well but after the scan a doctor came in to calculate my risk and said my blood results had been shocking (not sure of exact figures but HCG 3 x higher than average and PAPP-A 70% lower than average) giving me a 1:67 chance of T21 - I don't think the others trisomies were high risk. As it wasnt a proper appt I left 5mins after she told me that and felt sick and  devastated. My husband and I talked and agreed I would have an amio, which KEMH told me over the phone couldn't be done till week 16 but to wait for my next appt on 10th January to discuss options. I was worried as I wanted to make sure we had finished moving house by the time I had the amnio, not wanting to be lifting or overdoing it afterwards - and we hadn't found a house yet.

Probably a good thing I've been so busy so I didn't have time to sit and mope. There hasn't been an hour of a day since NYE that this risk hasn't weighed me down like a black cloud, it's the first thing that comes to me when I wake up. Half the time I'd consider it's a less than 2% risk, the rest of the time I'd think I don't deserve good news, I'm not perfect and look at all the great people who do get bad news - why do I deserve better?

My appointment at KEMH on 10/1 was awful. The doctor I saw who was a woman who was telling me all about her 18mth old kept starting to ask questions or tell me things and then stop and say - oh but we won't discuss that until you get your test results - I just wanted to leave the room after a few of those. Then she also said if worse comes to worse you're young, you can have another easy enough. I know it's tough to know what to say in this situation and I'm feeling extra sensitive at the moment but she really upset me. She gave me my options, and mentioned the VERIFI blood test that you can have done at Clinipath West Perth for $900 (no rebates) where they send your blood to America and you get the results 7-10 working days later. The Dr had already scheduled me for an amnio on 22/1 but I asked her to write a referral for the blood test. I didn't have much money after paying a new bond but the doctor said she'd always recommend the VERIFI test over an amnio (due to the risk of miscarriage with amnio) except for the fact that the cost makes it inaccessible to alot of people. I was prepared to do an amnio but I thought if I could pull the money together then I would be eliminating some risk. I paid most of it and my mum and sister put a bit in too.

I went to have the blood test done on Tuesday 14/1 (first available) in West Perth and had a lovely pathologist who ticked the second box on the referral form to test the sex chromosomes so that we could find out the sex. The rest of that week was busy with packing and moving thank god, but I was driving myself crazy and I know everyone around me was watching me do it but there was nothing they could do but wait with me. I feel it's so hard to properly aknowledge the pregnancy and baby and make any plans not knowing what the results will be, and also thinking of the baby brought the whole problem to the forefront of my brain.

I started phoning the hospital on Monday even though the results wouldn't be available until at least Weds, maybe next Tues latest. Well after one such call yesterday, Weds (6 working days), the hospital phoned me back and I was so shocked when they said they had my results. They told me that all the trisomies came back negative and I'm having a girl. I've never been so relieved in my life, but I was sure I was dreaming the phone call - it was too good to be true. I even phoned them back to make them check they were MY results they were looking at. I phoned my husband who was over the moon, as was everyone else that's been on this journey with me. I read alot on forums and support groups while I waited and promised myself I would post when I got my results, I know looking at polls and other peoples results from similar risks helped me cope for a while there. Good luck to anyone finding themselves in the same position. There's nothing that can be said to make it any easier, but I am a big advocate now for the VERIFI blood test (note it has been reduced to $900 by the time I got it done in Jan 14), if it's possible for you to have that test done I highly recommend it although if it weren't possible for me I'd have had no hesitation in having the amnio done.

Love, Jade

#40 Nervousmama

Posted 23 January 2014 - 06:42 PM

Alexis - it was so great to hear how your story ended. I've thought of you often and wondered how things went for you. Congratulations on your little girl!

Mrs Miller - glad your story also has a happy ending. I went through the bad blood test results and subsequent CVS last year and went on to have a healthy girl in October. I just check in the forum from time to time to offer support!

#41 Subbie

Posted 05 February 2014 - 08:11 AM

Hi everyone, thought I would update. It used to worry me when people shared high risk scans and then never came back to update...the people that did always gave me hope...so I thought I'd do the same.

My stats were
NT 4.5mm
Papp a 0.38
Bhcg 1.1

T21: 1 in 2
Other trisomies 1:72, 1:92
Nasal bone present

Initially when I had the NT scan we were told sorry and that it was worst case scenario, that if the baby did not have DS that it would more than likely have a congenital heart condition or other genetic abnormality around 50% chance. Our CVS came back clear and I was still worried about other conditions however 2 fetal echocardiograms, 3-4 specialised ultrasounds by a specialist sonographer all came back great.

Our baby boy was born in nov 39 +6...and came out perfect, 3.06kg and perfectly healthy....A great labour...the only thing we noticed was he has a very chubby neck, an extra fold of FAT behind....yes a whole pregnancy full of stress for a bit of fat. Crazy.

He is now 3 months and a happy little vegemite. Hope this post gives comfort to those with bad scans.

I should also add both my other children had good NT but had low papp a round 0.2 and they came out perfect, no IUGR, no preeclampsia or other issues.

#42 Subbie

Posted 05 February 2014 - 08:14 AM

Good to hear cookie, nervous mama, worried mum, alexis...I know we all ad our tests round the same time. Glad to hear all is well x :)

#43 jadach

Posted 08 February 2014 - 09:27 AM

Hi everyone, well this is not a group that i thought i would have to join, but i have just received my 12w u/s results last week and the risk of T21 is 1:4.  The NT measurement was 6.2, and nasal bone not well visualised.  It doesnt say anything on there about other trisomys.
I am booked in on Wednesday for the cvs test and u/s, and will also be paying for the fish test to get the results back a little quicker.
Can someone tell me what the papp-a is?  i have looked over my results and cant see anything about this on there.
Will update as soon as i have my results, but by reading on here, i am hoping to have the same luck as a lot of you other ladies.
Thanks for reading!

#44 mummyTee

Posted 15 February 2014 - 12:13 PM


Jadach - how did you go?

I too find myself here, although it does seem to be very quiet, but I'm already feeling a bit better about things just writing it all down.

I've just gone to the GP and collected my combined results. I knew already that I would be high risk because of the fold, so I was somewhat prepared I guess.

Measurement: 3.4
PAPA: .5
HCG: 2.4
I'm 31

I have an appointment with my ob on Wednesday so I'll know where I'm headed then but my husband and I have already decided we want further testing. I will be 14 weeks on Monday, so it looks like I'll have to wait till at least the following week for an amnio.

Thanks for reading!

#45 Atson

Posted 18 February 2014 - 08:25 PM

Hi everyone. I just discovered this topic after my NT scan this morning, I have not had a chance yet to read much through the past threads. Thank you so much for sharing your stories, and my thoughts are with those of you still waiting on results.

My scan results this morning were devastating, NT was 3.0mm, and combined with my age (38) and blood results I was given odds of 1:2 for a trisomy disorder. I was not given a breakdown of the risk for 21, 13 and 18, so I am unsure if this is a combined risk or the risk for 21 alone.

I was a bit shellshocked when they were going though the blood results and didn't think to take notes or ask for a copy. From what I can remember I think the hCG was 0.7 and the PAPP-A was 0.33. There was some disagreement about the nasal bone. The sonographer felt that there had not been a clear enough view to determine if it was present or not, while the doctor was confident that it was absent.

Given the odds I opted for a CVS, unfortunately given the position of my uterus it had to be done vaginally. We should get the initial results back on Thursday.

We're pretty devastated right now, holding on to some hope but recognizing that it is not looking good.

Thanks for reading and letting me get it off my chest. I'm collapsing into tears trying to talk about it to anyone besides my husband. The baby just looked so perfect on the ultrasound, going from such absolute joy seeing on the screen to getting the news that we are most likely going to lose it has been harder than I thought possible.

#46 Nervousmama

Posted 20 February 2014 - 01:02 PM

Hello to the ladies who have unfortunately found themselves here. I was going through this awful journey early last year so know how devastating it is. I opted to have a CVS because I was at the right stage of pregnancy and couldn't bear the thought of waiting for an amino, as it was I lost 2 kg from stress in the few days between my NT scan and having my CVS, and it wasn't until I got the full results 2.5 weeks later (I got the a FISH result 24 hours after the CVS), and the risk of miscarriage had passed, that I started to be excited about my pregnancy. So my thoughts are with you all, and hope that reading through some of the old posts give you some hope. The waiting and not knowing is awful.

Subbie, congratulations on your perfect little boy x

#47 Marigo1d

Posted 20 February 2014 - 03:58 PM

Atson, I am crossing my fingers and hoping you have good news.

We went through the same thing last year, getting 1:2 odds and going through the further testing only to get bad news.  Please feel free to PM me if you want to ask any questions or vent or anything.

Edited by Marigo1d, 20 February 2014 - 03:59 PM.

#48 jadach

Posted 26 February 2014 - 09:43 AM

We weren't able to get the cvs done in the end, as the placenta had moved into the wrong position.  So I ended up having an amino yesterday ans am sitting here now waiting for the results.  Fingers crossed for everyone x

#49 HappyWomble

Posted 26 February 2014 - 01:18 PM

I have my fingers crossed for you. I've been following your story. Will you be getting FISH results in a day or so?

I have a double amnio (twins) on Monday (I'll be 16w6d). One has a risk of 1:2, the other 1:11 for Downs. The other trisomy risks are very high too. We won't feel truly pregnant till we get the all clear.

The ratios are high due to my age (43), difficult to visualise nasal bones, and slightly raised NT measurements: 2.17mm and 3.25mm (going from memory).

ETA the blood results were very good, they actually improved my results! Although I don't know that there's a score worse than 1:2.

Edited by HappyWomble, 26 February 2014 - 01:20 PM.

#50 jadach

Posted 26 February 2014 - 10:17 PM

I got my FISH results today and they were normal.  I was over the moon!  Although there is still a 2 week wait for the rest of the results and another u/s in 3 weeks as the nuchal is still thick, so we need to get to the bottom of that.  
I have my fingers crossed for everyone awaiting their results x

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