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Support Group for Hi Risk NT Results #41


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#1 ~A2~

Posted 02 October 2012 - 10:00 PM

Hi all

New thread time

Previous thread

Regards

Ali


#2 MrsBobby

Posted 02 October 2012 - 10:15 PM

Bohohooo... I had written this long post in the las thread and then it got locked on me! sad.gif

Anyway, managed to save some of it!

Funny hey how you totally don't remember stuff like that...  Forgot all about it, especially because it's not something that bothers me... But then I suppose it will be good to know our little man has it or not as my dad has to go and donate blood regukarly to keep his iron lebels low. He was quite sick at one stage until they found out what was wrong with him... Bubba won't have thag problem because we will already know if we'll have to watch his iron levels.

Apples, yes the bloodtest is only for DS but I suppose it saves and least all those with a high DS risk (and I am tinking especially of older ladies who are automatically more at risk!) from having to have to have an amnio or CVS with an added risk of miscarriage. But you are absolutely right, there are so may other things out there! Sometimes I ask myself how people actually manage to have a healthy baby!



#3 MrsBobby

Posted 02 October 2012 - 10:17 PM

Oh and Apples, not sure if you got your notificaions working yet but make sure you click on the little wheel on the top right of this thead and click "track this topic"... Should work!

#4 Apples

Posted 03 October 2012 - 08:40 AM

Thanks MrsBobby, I've done that now - lets hope that works!

Brand new sunshiney day, brand new thread... lets hope for some good news today!!!!

#5 zackcat

Posted 03 October 2012 - 09:03 AM

Thanks for the notifications tip - I had no idea that we could do that!

So......we got a phone call from one of the genetic Dr's up at the hospital last night as it was 2 weeks since the amnio. And.....no results yet.

She hopes by Thursday and has said they want to see us after the Morphology scan on Thursday. I didn't speak to her, but am going to give her a call today and ask if we can see them before the scan.

I want to know whats going on and so far I haven't been able to get excited in any of the scans. If the amnio is all clear and it's only the placenta we have to worry about, then I want to know before the scan so I can try and get some happiness and excitement back into this whole experience. Make sense?



#6 Apples

Posted 03 October 2012 - 09:14 AM

Yay! It worked!!!! original.gif

Zackcat: totally makes sense! and wow, I would have thought they'd have the results by now!  2 weeks!  Tomorrow is 2 weeks for me, and they said 7-10 days... I'm counting that as business days, so that would be 10 days tomorrow for me. (Or the full 2 weeks).
At least they gave you a call I guess? Even if it was to say there was no news...

So the morphology scan is tomorrow? Or do you mean next Thursday?



#7 MrsBobby

Posted 03 October 2012 - 10:11 AM

Oh I am such a technology nerd. original.gif

Zackcat, I would be the same and would want to talk to them before the scan. Might also explain the cardiologist for you! I hope the amnio is all clear and you can enjoy seing little bubba! I thought if they don't find the cells in the amnio there shouldn't be a problem with the placenta? You only have some funky markers?!

Fingers crossed for everyone for some good news this week! With sun shining it can only be good! original.gif

#8 zackcat

Posted 03 October 2012 - 11:15 AM

Yup Apples, the morph scan is tomorrow.

The ultrasound Dr just rang my boyfriend and told him that the microarray testing the Newcastle lab were doing on the placenta sample {they did the original CVS pathology work} was finished.

This is what he just emailed me "I just had a call from Karen Mizia. She said that she has the array results and they have narrowed it down to chromosome K but the ring is benign. She said that that’s ambiguous but points to it being of little to no impact. She said that Lisa and Edwin would be able to give us more information though".

Edwin and Lisa are the geneticists we are seeing tomorrow, hopefully before the scan, to get a summary of the amnio and placenta array testing.

I've googled Chromosome K and got a whole bunch of scientific waffle that doesn't make much sense. Anyone else on here know anything about "K"?!

I just want someone to tell me that everything is ok!

#9 Apples

Posted 03 October 2012 - 11:21 AM

hmm, confusing! I thought the chromosomes had numbers, not letters!
so they did more testing on the placenta sample?
I would just be waiting on the amnio results... don't speculate anything until you get those results.

#10 zackcat

Posted 03 October 2012 - 11:26 AM

Yeah, there was some new fancy testing the pathology lab is trying to get accreditation for that involved further testing on the placenta sample, so the genetics Prof up at the hospital suggested we get it done as it would just be another piece in the puzzle.

It's insane how complex it all is isn't it? I will be making much bigger donations at Jeans for Genes day fundraising from now on!

#11 MrsBobby

Posted 03 October 2012 - 01:43 PM

I was thinking the same about chromosomes having numbers but apparently the chromosome with my iron thing is HFE so they must have some other way of discribing them... It's so weird!! But the way your DP said it in the message, it points to it behind of little to no impact!! So that's good news!! I am sure they will explain it all tomorrow. But I hate how they always leave you in suspense for a while!! Even if it sounds like good news, there is always this little nagging thing in the back of your head...

#12 ess ess

Posted 03 October 2012 - 02:36 PM

Hi ladies,

Zackcat that does sound like positive news for you - I will be thinking of you tomorrow for your meeting and your scan and sending you lots of luck! And I am with you on the genes for jeans day donations - gosh it is amazing work that they can do these days.

MrsBobby that is good that you remembered the iron gene that runs in your family - hopefully that is all they come back with and all is good next week.

As for me - I wasn't expecting a call until tomorrow but the genetic counsellor just called to say bub is clear of the next 32 most common CF mutations ( biggrin.gif ) so at this stage it looks pretty certain he/she is just a carrier of the Delta F508 gene. After emotional breakdowns all weekend from too much googling (naughty I know) it is just such a relief. She said that the chances of me having given bub one of the other 1400 or so mutations is super rare so we should try to relax about it all now.

They said if we want more children (I'm a FTM) my husb and I should get fully tested at some stage to see what our genes look like and what the chances are of any future bubs having CF but so nice not to have to worry about this one for now! Fingers crossed all microarray results are clear (should come through in the next day or two for us).

I also had an ob appt at lunchtime today and he was super lovely and due to my stress levels did a nice long scan to show bub wriggling around and a strong heartbeat which was such a relief after the amnio last week!

Anyway I hope everyone else is travelling ok - I am sending all my good vibes and best wishes to all of you ladies waiting on results this week and next, big hug to you all.

Ess Ess xxx

#13 Cyaira

Posted 03 October 2012 - 06:14 PM

Hi all,

Haven't posted in a few weeks but have been slowly counting down the days till our 16 week scan to check for chromosomal anomaly markers..

Well, the day is tomorrow. Please wish me luck for no markers and that we find out the gender of our baby! It won't completely rule out our risk of T21, but we are not going to do any invasive testing (we will keep our baby no matter what) and really I guess 1/294 is not too bad, even if it sucks for my age.

We will be seeing the doctor or a genetic counsellor after our appointment and I'm pretty sure we get the results straight away. I will pop back in to update.

Thankfully I know our baby is doing ok as I can feel him/her poking and prodding me now original.gif

so glad some of you have had good news lately xxx I will be thinking of your scan too Zackcat when I have mine.

I really wish I could have that blood test for t21, it would be perfect for people in our situation. sad.gif




#14 zackcat

Posted 03 October 2012 - 07:17 PM

Good luck to you too Cyaira  hhugs.gif

So glad you got good news today ess ess - that's awesome  cclap.gif

#15 Ral1

Posted 03 October 2012 - 11:17 PM

Zackcat- Hope your final results come through tomorrow, I also just googled chromosome K but found nothing sorry!

Ess Ess - glad to hear your results came back good! What a relief for you!

Cyaira - Goodluck with your scan tomorrow! Hope they find "NO" markers and all is well.

AFM - I got my results adjusted by them adding my weight in to the NT results and it slightly changed. Ive gone from 1:29 chance to 1:36 oh yay..............I guess the more chances of being clear the better. Still 97% chance everything is all good. Oh and it changed my Papp A to .42 instead of .32 (or something like that)

I have my first hospital appt tomorrow and a doctor is coming to see me and hopefully we can get the amnio booked in asap. Im 15 weeks so its a late 'first' hospital appointment but thats my local GPs fault who only asked me why I hadnt booked in yet, the reason was because he had not given me a referral yet!!! Hoping I can get the amnio booked, one step closer to getting results! Wish they could magically fit me in tomorrow but I doubt it highly!


#16 MrsBobby

Posted 04 October 2012 - 07:50 AM

Ess Ess, that's awesome news! Yay for you! original.gif

Zackcat, Cyaira and Apples, good luck today! I hope it's a day for good results!!!!

#17 Mum to a boy

Posted 04 October 2012 - 08:46 AM

Hi Ladies

I just want to wish you all good luck in your results too!!

Ess Ess - so happy you've been given some positivity in all the worry :-)

As for me, I'm still in the dark as to what my results mean, but have an appointment with the genetic counselor for next Tuesday, so looking forward to knowing more.

Hope today is a good day for you all!!

#18 Apples

Posted 04 October 2012 - 09:08 AM

good morning... still waiting for my phone to ring!

Good luck today Zackcat and Cyaira!!!!!!! Crossing my fingers for both of you xxx

Ess Ess: congrats on the fantastic results original.gif
all the best for your microarray results.

Ra1: hope they can fit you in as quick as possible.  I haven't had a 'hospital visit' yet, well not a proper antenatal one... I've had the ones at the genetic clinic and the US clinic... but none at the hospital where I am booked to give birth! Though very tempted after all this to change over to the Womens anyway after they have been so great.
Good luck with your visit today, hope it all goes well.



#19 zackcat

Posted 04 October 2012 - 09:17 AM

Ditto - best of luck to EVERYONE today xx

#20 Cyaira

Posted 04 October 2012 - 12:23 PM

Quick update:

Baby looks healthy! No markers of down syndrome seen, heart looks fine, bone length looks fine etc, etc. YAY!!!

They didn't tell us the gender though, awwww sad.gif

Have to go back for a 19 week scan as normal though.

#21 MrsBobby

Posted 04 October 2012 - 12:48 PM

Cyaira, that's really, really good news!!! Haha, bugger they didn't tell you what it is. They might not be sure either, hence the wait for the 19 weeks scan. Our baby was so proud of his little bits he showed all at 12 weeks and amnio confirmed it...

#22 Apples

Posted 04 October 2012 - 01:01 PM

Fantastic news Cyaira!  Looks like you made the right decision original.gif

#23 lkd2012

Posted 04 October 2012 - 03:07 PM

Hi ladies! you will never guess what happened...here is my story...this is really long! I want to come back and share my experiences today as it may give hope and also provide insight onto what might happen if the sonogrophers get it WRONG when inputting data and not doing a thorough scan!!!.....

So I am a nervous wreck the past few days...not sleeping not eating...trying to think positive and praying that somehow this was all a horrible mistake or something (thank god for this support thread to give me some hope!) I was first appointment this morning at Dr Carmody's at the Wesley Fetal Medicine Unit which was a blessing so I didn't have to wait around all day.  

Firstly a sonogropher did an assessment (lovely by the way! her name was Carol) and went through my history first and did a scan.  Before the scan, we sat down and I showed her the mistakes in my paperwork particularly on my blood tests and she immediately said "this has serious implications"   I immediately thought bad and started crying...and she said "no....they have made a serious mistake with your blood tests which may mean a totally normal risk for you"  I then cried even harder because I was like "normally bad things happen to me."  

Sure enough she contacted QML and got the original report faxed through and the sonogropher who entered all my blood details at Exact Radiology Ipswich (name and shame!) made mistakes which completely impacted my tests.... one of the biggest ones was she entered the dates my blood test was taken as the 28/9/12 when in actual fact they were taken 18/9/12 (I had picked this up in the paperwork immediately when I first picked up the scans and was hoping that this might have something to do with the high risk stats - I had no idea my gut feeling would be true though!).  Apparently this wrong date had a huge implication for the calculation of my hormone levels in relation to MoM in relation to the timing of when it is taken!  

I went from:

Free BHCG:
0.429 MoM to O.3397 MoM (slight decrease, but not a concern as this varies widely and good for risk of down syndrome)

Papp-A:  0.385 MoM to 0.6827 MoM  (this is what had huge implications for my results!)

Downs Syndrome  went from 1:685 to 1:3007  (background risk 1:557)
Trisomy 18 went from 1:540 to 1:3408 (background risk 1:1355)
Trisomy 13 went from 1:150 to 1:1477 (background risk 1:4251)  

Trisomy 13 was the big worry and is still a bit lower than the background risk due to the lower hcg and medium papp-a, but hey I will take that!!!

The NT was nowhere near as big either (although not significant as at the 12 week NT testing mark) but she said it has gone down and completely not a worry!

I went from high risk needing an amniocentesis (which they had scheduled and was prepared to do based on my original results) to very low risk on the spot once she fixed the mistakes (she also entered afterwards that I had a nasal bone present which changed them even more).    

She did a thorough scan and was extremely happy with jelly bean's growth which is on target, nasal bone present, heart looks in "excellent shape" with four chambers and good heart beat, the brain looked good with two hemispheres...etc, etc.  I spoke with Dr Carmody and he reviewed everything and said he would not recommend an amniocentesis at all to his wife, sister, neighbour or cousin with these results.  In his words (and he is a total character!)...."it was all one big c*ck up!"  I am overwhelmed with relief after all this stress.  

Obviously it doesn't rule out things 100% because only an amniocenteses would but I am booked in with his clinic for the morphology scan in November and a close eye will be kept on things and if anything changes I can have an amniocentesis then but they would be extremely surprised as by all indications by Dr Carmody I am carrying an extremely healthy looking bubba!  They said they see something like this maybe once a year if that and have also seen mistakes made that put people from low risk to high risk...so finally I am a statistic that is good!!! I can only imagine though that if some mistakes are made where it is 1:3000 when in actual fact data entry has been incorrect and they are high risk or something!  The sonogropher explained the strict processes they have to ensure this doesn't happen which made me realise how dodgy my first experience was with Exact Radiology Women's Clinic!

Dr Carmody said he will be ringing Exact and both the sonogropher and Dr Carmody strongly encouraged me to write a written complaint to the Fetal Medicine Board and Exact as the sonogropher has made mistakes everywhere (the scans were also dodgy and not in the right position (baby facing backwards) which could have also affected the NT measurement and sight of the nasal bone etc).  I am so grateful for their clinic and their stringent testing procedures and so glad I found them and questioned the original diagnosis and report.  

Even the DR at Exact who apparently "reviewed" my report by the sonogropher made a mistake saying my EDD was the 30/12/12 ( I would be 7 months pregnant at 12 weeks!) not 30/3/13!!!!!!!!!!  So after a rest I will be drafting a complaint letter...

I also got 41 photos and my whole scan on DVD so all in all it has been an exhausting and overwhelming experience but feel like I can now enjoy my pregnancy again and start buying things!  So this was my bubba today at 14weeks 4 days (I hope you don't mind me posting I am just so excited!!!!) - ETA will take down the photo for now as realised I didn't crop my full name out doh! Will put it back later on once I work out how!

Now I just have to put into words how stressful the past 2 weeks have been due to this whole entire mess.  I know I am very lucky and I feel blessed to have received this news today.  

Thanks so much for all the support! I will pop back in to do personals later tonight as everyone helped me so much here...even though it was only a few days.  I think in the back of my mind I will still be a blubbering mess because of the damage done by all this worry, but hoping with time it subsides.  It goes to show mistakes are made and that we should follow our gut feeling in getting a second opinion.  

I can't recommend Dr Frank Carmody and his clinic highly enough - what an excellent, professional service!!!! Please feel free to PM if anyone finds this in the future and wants to know anything further! My only advice after this experience is this sort of scan really needs a hugely professional person/clinic to be doing this so mistakes like this don't happen.  The worry and attachment issues it has caused me with jelly bean were terrible the past two weeks and could have been easily avoided with proof reading the report!  I know people are human, but these people are playing with people's lives and children!

Anyway thanks for reading...and hope this provides hope to others!

I am thinking of all you lovely ladies today and will be back later on tonight xxxxxxx

Edited by lkd2012, 04 October 2012 - 03:17 PM.


#24 Apples

Posted 04 October 2012 - 03:07 PM

Oh and I meant to ask...

at night I have been getting a sharp pain if I turn over too quickly in my sleep... usually on my left side (but maybe just because that is the way I am turning).  its that bad that I usually moan or make some kind of noise that wakes DH.  Then I try to make an effort to hold my belly while turning over, and do it very slowly, which means I have to wake up more.  Its happened nearly every night for the past week or so...
anyway, has anybody had anything like this?

My SIL sent me a msg today after I told here there was still no news... she said she can't imagine what I must be going through.... and that got me thinking...
I feel like I am on a massive rollercoaster, with terrible dips, followed by bits of flat... at the moment we are on a big corner, and I can't quite see around the bend, but I know that it must be coming up very soon, and once we get around the corner there is a fork in the track and one way catapults us into the worst part of the ride, or the other track stops the ride and we can get off...

And I look at my phone as a ticking time bomb, waiting for it to go off... It may go off and something terrible happens... or it may just fizz out and do nothing.

I sat in a meeting at work just now thinking all these things... and wondering what I would do if the phone rang right now... and if I went into another room to take the call, and if they told me bad news on the phone what would I do? come back to the room and go on with the meeting, or just stay in the other room in shock until someone noticed I hadn't come back?
Then i just tell myself that none of this is helping...
2 and a bit more hours to go...

#25 Apples

Posted 04 October 2012 - 03:35 PM

lkd2012: you must have just posted before me... Congratulations - what a relief this must be for you!
And how unbelievable that they could make such huge mistakes with massive ramifications!






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