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Support Group for High Risk NT Results #44


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#1 ~A2~

Posted 30 September 2013 - 09:27 PM

Hi all

New thread time

Previous thread

Regards

Ali

#2 Jacksmummy4

Posted 02 October 2013 - 10:49 AM

Hi ladies,

Just thought I would check in, Our case has become even more complicated. When we had the amnio done, they sent our samples off for a full aray done. So looking at each chromosome for genetic testing. It seems that our baby has a missing piece to chromosome 15. Which is to do with development delay, autism, adhd etc. Once again we were offered a termination, which would have been at 21 weeks. We have seen a genetic professor and have made an informed decision that we will continue with the pregnancy. I cant give up on our little girl after all we have been through.

Did anyone else have their amnio test followed up by a full aray done?

#3 sparky17

Posted 06 October 2013 - 04:44 AM

Hi again *** sensitive loss mentioned***
Sorry to hear all this bad news.
We are one of the few that actually got a false clear result. It was taking forever to get the CVS results and the longer it took the more I thought something was wrong.
The full result came back positive for trisomy 18.
They called us in to do a thorough ultrasound and an amnio.
The closer we looked at the ultrasound the more familiar the characteristics were. The Dr was very professional and didn't try to hide anything. Our little girls heart was not formed properly and same with her kidneys. We had already made the decision to make sure she wouldn't suffer any more if that was the case. We did the amnio just to confirm what we already knew and the hospital staff got the paperwork going to be induced at 19 weeks.
We lost our baby girl last Tuesday. Thankyou kindly for ur support and reading our story.
I am happy to help anyone else that unfortunately has to take this path

#4 feralangel

Posted 12 October 2013 - 09:42 PM

I don't belong in here but having been given very high odds in the past, i like to offer support to others going through the same thing.

Anyway, what i really want to say is how sorry i am to read about your painful loss Sparky and  send you a big cyber hug.

Take good care of yourself.

Thinking of you at this sad time xx

Edited by natangel, 12 October 2013 - 09:45 PM.


#5 nutmeggy

Posted 13 October 2013 - 01:35 PM

Hi Ladies,

I must have read over a years worth of posts in these threads, trying to find out as much as I can about what I am facing. Your stories have been both saddening, and inspirational and I'm really glad there is a group like this out there for people like me to stumble upon.

I found out last friday that I am at high risk of having a child with trisomy 21. My risk is 1:29 due to a low Papp- A of 0.21 MoM. I'm 33 years old. My age group risk is 1:314 or similar, so it's a pretty big difference.

I don't have a copy of what my HCG was but everything else was good, my scan was good, NT measured 1.49mm and a nasal bone was present, measuring 1.1mm. All the bits and pieces reported as normal,  and the cord has 3 vessels.

So I'm in a bit of a spin as you would all know! I'm trying to get in for a CVS this coming Tuesday as I need to find out asap.

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?

The other thing that worries me is the possibility of Turners syndrome if it is a girl.  A doctor once said to me that I had some characteristics of it (i have stubby fingers, not freakishly so, and i'm quite well in proportion everywhere else), so I'm concerned about this as a genetic trait I may have passed on.

This will be my second child, for my first I had no issues at all.

#6 *bluestar*

Posted 13 October 2013 - 02:45 PM

Nutmeggy I had low papp-a with my last pregnancy 0.29. I went on to have an amino which was all clear. DS did end up with IUGR but I was monitored from 30 weeks and as soon as the growth slowed he was delivered at 36 weeks, very healthy with no problems. I am pg again but papp a was normal this time.
Good luck for your cvs.

#7 Marigo1d

Posted 13 October 2013 - 03:02 PM

Nutmeggy, I don't have any advice re your questions but I just wanted to say good luck for your CVS.

#8 nutmeggy

Posted 13 October 2013 - 03:44 PM

thanks guys. i'm going to call the hospital tomorrow morning to follow up, my referral was only sent through to them just before 5pm on friday which is why i dont know when it will be yet.

to add to all this trauma i am moving house this thursday, so i've been frantically trying to finish packing this weekend so i can rest after the cvs. I know if it's not all done beforehand i wouldn't be able to stop myself packing. i'm almost finished, really just have food and the stuff we are using to go. it's amazing how much a family can own that they never actually use!

*bluestar*  - do you know if there are any developmental delays or mental deficiencies related to IUGR?

ETA - am booked in tomorrow for a CVS so fingers crossed.

Edited by nutmeggy, 14 October 2013 - 02:07 PM.


#9 Pupalou

Posted 15 October 2013 - 11:18 AM

HI Ladies,

I'm new to this thread so please excuse my ignorance as I am just learning.

My ob told me yesterday that my amniotic fluid is low, there is a 1in6 chance baby will have DS and baby has an enlarged bladder.  I am waiting on the psecialist to call me back and book me in for further teating.  I have no idea if I will be having an amnio or CVS at this stage.

All I really know is that I'm terrified.

I'm lucky enough to have one beautiful perfect son already.

#10 *bluestar*

Posted 15 October 2013 - 11:50 AM

Nutmeggy, I not sure what the likelyhood of delays in relation to iugr. But I have experienced both diagnosed and Undiagnosed iugr. With DS2 it was not picked up at all but there was no reason to suspect it either. He was deprived of oxygen before birth and now has delays...however as we were aware that it could happen again with DS3 I was monitored from 30 weeks and he was born at 36 weighing 4lb 10oz. He is 3.5 yrs now with no issues at all.

At least you are aware that it is a possibility, you should get extra monitoring and growth scans to make sure everything goes well. Good luck for the results of your cvs.

Pupalou, fingers crossed for you. Hoping that this is just a big scare and everything is fine. Good luck!

#11 nutmeggy

Posted 15 October 2013 - 01:02 PM

Pupalou I'll be crossing my fingers for you.

I had my CVS today, it's not the most pleasant experience but not too terrible either. I should get my FISH in the next day or two.

I did ask some questions around low Papp-a and spotting as I've read a few comments about spotting causing the dodgy blood work. I just wanted to clear this up. I spoke to 3 different doctors and none of them had ever heard of this, so this is probably a myth.

I also was told that having just a low Papp-a and spotting does make the risk of miscarriage from the CVS procedure greater, although the doctor couldnt say by how much.

So far I'm feeling ok, so fingers crossed i wont have to face that.

#12 nutmeggy

Posted 16 October 2013 - 11:58 AM

I got my FISH results today and we screened positive for down syndrome.

better luck to all you ladies currently undergoing testing.

#13 bees-knees

Posted 16 October 2013 - 03:08 PM

Nutmeggy, I have PMd you - just wanted to post on here, in case you don't get a notification about the PM

#14 Cookie78

Posted 23 October 2013 - 08:08 AM

My heart goes out to everyone on this board.

I came to this board for support earlier this year and I thought I would return with the good outcome.

At the 12 week scan I found out I had a low papp-a reading of 0.3 with the risk of Trisomy 18 at 1:275.  I was told this is a borderline result.  There were no soft/physical indicators.

As I wanted to avoid an amnio, we opted for the maternal blood test out of the USA. As 1 in 275 was a less than a 1% chance, we were quietly hopeful that the test would be clear. After about 10 days the test came back inconclusive - somehow it was another borderline result. There was a suggestion that maybe the cells with Trisomy 18 were in the placenta and not the baby.  We were advised to have an amnio.

I had the amnio at the 15 week mark.  Fortunately, the following week we received clear results for the baby.  The only issue remaining was the low papp-a and IUGR. One of the other ladies on this board was taking Cartia for low papp-a, so I took up that suggestion with my obstetrician and he agreed.

The scans at the  20 week and 35 week mark showed that baby's growth was average.  Baby H was born last tuesday with a birth weight of 3.25 (just under his big brother's birth weight).

Thank you for your support.

#15 Nervousmama

Posted 23 October 2013 - 01:04 PM

Hi ladies - I also used to come to this thread when I was given 1:45 downs odds earlier this year. So sorry you're all going through this.

Reading Cookie's post (congratulations!) I thought I'd post an update for future googlers.

After my CVS results were clear, there were worries that my low Papp-A would result in growth issues etc.

Growth tracked well throughout but my OB wanted to induce around 39 weeks so that my placenta didn't have the chance to cause any problems. I was induced at 38+5 and my healthy baby girl weighed 8lb 4oz. I did ask to see my placenta and to my untrained eye, it looked perfect.

Hopefully my story helps ease the mind of any ladies  in a similar boat. Best wishes to you all.

#16 Justaduck

Posted 23 October 2013 - 01:27 PM

Congratulations cookie and nervousmama and I am very sorry to hear some of you haven't got the results you were hoping for in your testing :(

I am at the other end of the scale with concerns for IUGR/placental deterioration etc as my hcg levels are elevated. With DD it was 6.01MoM and the sonographer this time around could not believe my levels were so high with her choromsomes being 'normal.' This time around they are only at 3.59MoM but for some reason I am more worried about issues with growth and placenta function than I was when pregnant with her.
I suppose I was so focused on her possibly having Down Syndrome (risk was 1:207, I was 23 and we declined amnio or cvs and the new blood test wasn't around back then and did a chromosome test at birth instead) that other issues like IUGR didn't cross my mind.
My Ob is keeping a close eye on it - growth scan at 32wks, weekly CTGs from 36wks, but still I can't help but worry something won't be quite right, despite the fact I haven't screened as high risk this time around.

#17 Beancat

Posted 23 October 2013 - 01:48 PM

HI I dont below here either, but used too - on too occasions.  I am sorry to read of the sad news that some of you have experienced.

Our first baby was high risk NT screening and cvs came back all clear.  He is now nearly 5yo.  We lost a little girl with Turners syndrome after our son was born and then DD1 came back borderline NT.  We decided not to go CVS and all turned out ok.  DD3 was our only low risk result and she is ok too.

Just wanted to say there is a high false positive result with the screening and I know how stressful it is to wait for the results.

Best of luck to you all

#18 WorriedMum2013

Posted 24 October 2013 - 12:24 AM

Hi Ladies,

Jacksmum, I'm sure your decision wasn't taken lightly & I admire your strength. xxx I'm certain the love you feel for your baby will remain unchanged despite this curveball. Also I'm sure all amnios have the full array testing done... The FISH only covers chromos 13,18, 21 & sex chromosomes.

Sparky & others, I'm incredibly sad to hear about your loss, your bravery knows no bounds. Xx

Cookie & Nervous :D two women who shared panic the same time as me! Congratulations! Very pleased to hear about the births of your healthy beautiful babies!!

I thought I should update..... After having an elevated hcg & extremely low papp a (0.18!) I had a clear, normal amnio result & for the most part my pregnancy continued very normally (the most normal out of the three I've had!) Somewhere around 35/36 weeks the placenta started to loose good function & bub stopped growing properly.... I was very closely monitored the whole way through (on aspirin from around 16weeks) and at 37 weeks the placenta was really deteriorating & I had bub via elective c-section, baby girl, Aurora was born 5pounds 10 ounces! Perfect & healthy!

Just a side note on IUGR, all 3 of my bubs had it, my first severely so & at least for us it has caused NO issues! All my babies gained weight nicely & have no delays (well #3 is still fairly new, but I have a feeling she is fine ;) ) I was monitored very closely with my second two pregnancies.

Wishing all speedy results if your waiting & normal results. Much love to all who have travelled & traveling this path

Hi Ladies,

Jacksmum, I'm sure your decision wasn't taken lightly & I admire your strength. xxx I'm certain the love you feel for your baby will remain unchanged despite this curveball. Also I'm sure all amnios have the full array testing done... The FISH only covers chromos 13,18, 21 & sex chromosomes.

Sparky & others, I'm incredibly sad to hear about your loss, your bravery knows no bounds. Xx

Cookie & Nervous :D two women who shared panic the same time as me! Congratulations! Very pleased to hear about the births of your healthy beautiful babies!!

I thought I should update..... After having an elevated hcg & extremely low papp a (0.18!) I had a clear, normal amnio result & for the most part my pregnancy continued very normally (the most normal out of the three I've had!) Somewhere around 35/36 weeks the placenta started to loose good function & bub stopped growing properly.... I was very closely monitored the whole way through (on aspirin from around 16weeks) and at 37 weeks the placenta was really deteriorating & I had bub via elective c-section, baby girl, Aurora was born 5pounds 10 ounces! Perfect & healthy!

Just a side note on IUGR, all 3 of my bubs had it, my first severely so & at least for us it has caused NO issues! All my babies gained weight nicely & have no delays (well #3 is still fairly new, but I have a feeling she is fine ;) ) I was monitored very closely with my second two pregnancies.

Wishing all speedy results if your waiting & normal results. Much love to all who have travelled & traveling this path

#19 Pupalou

Posted 24 October 2013 - 05:38 AM

I have my appointment this morning for my amnio. I'm feeling ok just now but I'm not hopeful. I've read a lot of stories and most have had good results but my odds are higher then in all the stories I've read. My husband has buried his head about it all. He refuses to think about the situation at all which concerns me as I think we will be receiving bad news and I will need to be the strong one. I just have a feeling he will fall apart on me.

I'm hoping and praying for positive news but my instincts tell me that our baby will have downs and other issues.

#20 Nervousmama

Posted 01 November 2013 - 12:00 PM

Pupalou - hope the amnio wasn't too awful for you and  that you have some answers now x

#21 flyingdaisy

Posted 18 November 2013 - 01:29 PM

Hi,

Last Tuesday my 12 week US showed bub had a 5mm nuchal translucency :-( Don't know the exact figures on my bloods but apparently they were very good, which brought DS risk down to 1:264, Trisomy 18 1:12000. Now I thought those odds sounded very good but both the sonographer and my OB didn't sound very hopefully on bub being normal and healthy. Obviously there's the range of heart issues, syndromes as well as the chromosomal possibilites that have caused the nuchal measurement.

Reading everyones stories is so hard, heartbreaking for some and encouraging from others.

I'm getting amnio done in 3 weeks as I have decided against CVS. And so the painful wait is on, wondering what results will show and how we will cope with all the possible outcomes...

#22 kiwimum2b

Posted 21 November 2013 - 10:10 PM

Hi ladies..
I had my 12 week nuchal scan on wed and got a call today.
I was told that with my age etc my risk assessment was ok, but my bloods were terrible.
Scan was great at 1.6
My beta hcg is 4 times the normal number which has put me at 1 in 55.
I'm devastated. I'm now waiting to hear when my amnio will be.



#23 flyingdaisy

Posted 22 November 2013 - 05:26 AM

Hi kiwimum2b,

Oh dear, I know how devastating it is to hear the news.

And how horrible just waiting waiting is.

Thinking of you...

#24 kiwimum2b

Posted 23 November 2013 - 03:59 PM

So it's Saturday so I can't get medical info until Monday...thought someone here might be able to shed a little light...

Cvs vs amnio??
I have been referred for an amnio..I am 12+5 and have read they like to wait til 15/16 weeks..is this correct??
Can I request a CVS instead of/aswell as the amnio??
I have 1:55 for downs as my beta hcg is 4.091..the scan was 1.6 and I really won't want to wait 3 weeks to possibly have some answers, if its possible to request a CVS early next week.
Is there out of pocket costs?? I'm in WA and going public..although I'm quite willing to stump up the cash if it means getting tested sooner (privately)
Any info greatly appreciated :)


#25 flyingdaisy

Posted 23 November 2013 - 07:14 PM

hi kiwi mum,

I'm pretty sure you should be able to CVS done, and yep, amnio means waiting til at least 15/16 weeks. CVS has a higher rate of causing miscarriage than amnio (1 in 100 rather than 1 in 200+).


both give you the same results so you would only get one done.


At the ultrasound centre I'm visiting in Melbourne, these are the costs;

-Amnio $360 ($146 back on Medicare)

-CVS $390 (196 back on Medicare)

-Pathology analysis (needed for both) $527 (337.65 back on medicare)

-FISH results (optional if you want main results in 2 days instead of 2 weeks) $175 (no rebate)

Wishing you all the best in finding answers and making your decisions...




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