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Support for High Risk NT Results #45


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#1 ~A2~

Posted 14 August 2014 - 10:45 PM

Hi all

New thread time

Previous thread

Regards

Ali

#2 JDelta

Posted 11 October 2014 - 06:17 PM

Hi All,

I just wanted to share a good news story for all the people going through a rough time after receiving a high risk result at their baby scan.

I posted in the previous thread a number of months ago when I received the terrible news that our DS had a 1 in 55 chance of Down Syndrome due to a very high NT measurement (5.6).

We were absolutely distraught when we were told this news by the obstetrician. I was only 27 years old and therefore never expected to be placed in the high risk category.

We had a CVS which came back negative for all the chromosomal abnormalities but we were told that there could still be numerous other problems with our DS (eg: genetic or congenital abnormalities, in particular heart problems, etc). I did a lot of reading about the chances of having a 'normal' baby with such a high NT measurement and all the studies I read were pretty scary. There were so many different conditions associated with a high NT measurement that I couldn't possible envisage everything turning out okay with our baby.

But low and behold, as the pregnancy progressed, we continued to get positive news. At the 19 week scan everything looked great with bub, then we had a further scan at 24 weeks which was normal. We were told that there was still the possibility of something being wrong that couldn't be picked up on the scans, so that was always in the back of our minds throughout the pregnancy.

Well, after a long long wait, our DS finally arrived on 23rd September and he is PERFECT. Nothing wrong with him at all! He has had all the usual newborn tests (eg: heel prick, examination by the paediatrician, etc) and they were all normal. He is a very happy and healthy little boy.

So for anyone else going through a similar ordeal to what we went through - just know that there CAN be a happy ending. My story is proof of that.

I wish you all the best of luck in your pregnancy and I hope that you experience the kind of luck and joy we have experienced.

xx

#3 little_bug

Posted 14 October 2014 - 09:56 AM

That's wonderful news JDelta! Congratulations on your little boy, I'm so so happy for you! I'm glad all turned out well in the end and I think it's great that you posted this update for others that may currently be going through a similar experience. As I have written in the old thread, my outcome was unfortunately not as happy. However, I'm currently nearly 14 weeks pregnant with a healthy baby. While I will always miss my baby more than words can express, I am allowing myself to be happy and to look forward to the birth of this little one.

#4 Jane14

Posted 24 October 2014 - 10:08 AM

Hi, I just thought I'd post here as I just got 'high risk' 1:194. In my googling Ive read loads of stories with 'happy endings' regardless of the outcome. I am 33 and the ultrasound was normal (nt 1.9 and a prominent nasal bone) but something in the bloods gave us this result- I didn't ask as knew I would just start obsessing! We did ivf but I'm told this shouldn't effect things? We have just sent of to Hong Kong for the igene screen... Just thought id see if anyone else going through this now ...

Edited by Jane14, 24 October 2014 - 10:09 AM.


#5 Jayne89

Posted 20 November 2014 - 04:55 PM

Hi ladies,
First time posting here so hopefully this is in the right spot. I just came home from getting my results of my NT scan and was advised I have a 1 in 84 chance of trisomy 13. Naturally I was quite upset and confused as I'm only young, we have no history in either sides of the family and my first child was perfectly healthy. I did try asking to doctor about it all but he wasn't very well informed and just basically told me I will have to see the specialist at the hospital to discuss getting the amnio done.

I have tried to read and get some understanding of my results but everything I have read is in MoM where as my results are Iu/L so I am still confused.

I am only 25 so my age risk is low. My NT measured 2.1mm which is apparently ok also.

Free beta HCG - 10.5 IU/L
PAPP-A - 0.75 IU/L

Does anyone have any insight into my blood results? From what I can gather they are quite low..
Any input is appreciated.

Thanks ladies xx

#6 RLS29

Posted 26 November 2014 - 08:00 PM

Just want to add a good news story because they helped me when reading these posts when I received a high NT result. I had a NT measurement of 4.5 and was put as high risk. I am 28 yrs old. My husband has a mentally disabled brother so I was very freaked out with the results and opted to get an amnio. Everything came back fine with the amnio but I also used some of my amnio fluid and got a micro array (further genetic testing that looks at the chromosomes a lot closer) test done, to make sure there were no smaller deletions on the chromosomes. Everything came back fine with that also and I now have a very healthy, happy 3 month old boy that is reaching a lot of his milestones early. So if you do get a bad NT result,  try not to worry too much before you get further testing. Xx

#7 tedofteds

Posted 30 November 2014 - 07:19 AM

Hi all,

My wife and I received the news that there is a 1 in 4 chance of our baby having chromosomal abnormalities (we were told that's as high as the results will rate and the probability is actually more like 1 in 2).

The NT measurement was 5mm, blood test was regular, but the lack of defined nasal structure and a shorter fingers produced the high result.

We are going through the CVS tomorrow, whilst a small part of me still dares to hope the results find our baby without chromosomal abnormalities, my wife and I have begun preparing ourselves for the fact that we are highly likely to have a child with Down Syndrome.

Up until this point, my personal belief is that I do not want to bring a child into the world who is effectively "born to battle". However, my wife thinks that these days, with the right support, most people with DS can have a good quality of life (despite the challenges that come with having DS). And she adamantly believes our fears of the various worst case scenarios should not rob this child of a chance at a good life.

So unless we receive medical advice that suggests our child is unlike to survive to birth, or survive past infancy, we will be welcoming (with delight and joy) our first baby, who happens to have DS.

I know between now and then, I have a lot of personal challenges to overcome. I am still dealing with the loss of the dream of having a 'normal' child. I am also tremendously scared of the trials and tribulations that comes with raising a child with a disability. The various (very possible) worst case scenarios keep doing laps in my mind. But for my love of my wife and my child, I know I will not fail. I will be a loving father, who wholeheartedly celebrates my child for all that he/she is.

I now hope the NDIS doesn't fall over or becomes a political football. Every dollar available to a child with a disability (and after he grows up) has an impact on him or her achieving a happy, independent and fulfilling life.

To everyone on this thread, my love and good wishes to you all.

Regards,
Ted

#8 tedofteds

Posted 02 December 2014 - 05:09 PM

Hi all,

It's been confirmed by CVS. We are expecting a baby boy (our first) who has Down Syndrome. We have decided to keep going with the pregnancy.

I have a little bit of grieve and self pity to process but both my wife and I are feeling ok, and our relationship has never been better.

Our family and friends have all been wonderful in the last couple of days offering their support.

So I guess the next step will be to start looking into the support services to make sure that we are adequately prepared by the time our bub arrives.

Wish us luck!

Ted

#9 readyandraring

Posted 07 January 2015 - 08:51 AM

Good morning, I am not sure how many people are on this thread but I thought I would introduce myself.

I am 36 and have had four miscarriages before my daughter and three since, I am currently 13 weeks 6 days and we went for our NT scan yesterday. Unfortunately not with good results.

Bub looks great, healthy heart and spine and a nasal bone present. No sign of any deformities.

Nuchal fold was 3.73mm
Free beta HCG equiv to 1.5000 MoM
PAPP-A equiv to .8900 MoM

Combined with the bloods our risks are all high:
Trisomy 21 1:20
Trisomy 18 1:212
Trisomy 13 1:61

The obstetrician who did the scan recommended we have an amnio at 16 weeks and await the results. I see my doctor at the recurrent miscarriage clinic and I am sure they will refer me to the Genetics team which is part of the same program.

We are devastated but don't really understand all of the results such as what the HCG and Papp-A refers to.

Trying not to google too much but the unknown is hard.

Anyone else had similar results, I want to hear all results as we are realistic to our situation. Thanks

#10 Jacksmummy4

Posted 13 January 2015 - 12:15 PM

Hi everyone

I haven't posted for a while but thought I would give you a brief update.
So for those who don't know. Our little girls NT scan was 4.5 with a 1 in 20 for DS. 1 in 80 for Tris 13 and 1 in 5000 for Tris 18.

We had the amnio at 16 weeks and also had a micro array done. The Amnio came back clear and we thought all was good, however our array came back that there was a deletion on chromosome 15. We were told this was to do with brain development and our daughter would be disabled and at 21 weeks we were offered a termination.
We consulted with a genetics team and they said that is was a big unknown as very little was known about people with this deletion. They only know that these kids generally have autism, OCD, ADHD, epilepsy, global delay etc.
We decided to continue with the pregnancy as we felt we had to give her a shot at life.

On the 30th December, 2013 6 weeks early our little princess Grace Annabelle came into the world. And she is perfect. She has been a little slower to meet milestones (She only started to crawl 3 days after her 1st birthday) and there are some hearing problems. But other then that. She is perfect.

I guess my advice is, when you get those ratio numbers, remember they are not a diagnosis. Only a potential of what COULD be wrong. Nothing is set in stone until the amnio results come in. And should those results be positive, do what's best for you. Be kind to yourself in what ever decision you take because no one will ever know what its like to walk in your shoes. They have no right to judge xxxxx

#11 readyandraring

Posted 14 January 2015 - 12:59 PM

Thanks for the update Jacksmummy, I am so glad to hear your story. My amnio is next week and I am finding myself very teary and unable to discuss it.

I am keeping in mind your advice and that they are just risk ratios so really hoping that we get the all clear.

Good luck with your beautiful daughter

#12 Kizdiz

Posted 16 January 2015 - 06:30 PM

I don't know if this is be right place for me. I got a
Call from dr to see her Monday for a specialist referral as I'm a 1 in 30 chance of Spina bifida. This was a result of the NT blood work. The scan looked fine but bloods say something else.
I'm really feeling awful about this and have had several meltdowns. I don't know what I'm
Looking for on here, I think I just needed to vent!

#13 readyandraring

Posted 18 January 2015 - 08:59 AM

Hi Kizdiz, sounds like we are in a similar position. Did they say what you will have done next or do you have to wait for Monday?

It is hard to take in isn't it?

#14 Kizdiz

Posted 19 January 2015 - 08:32 PM

Hi readyandraring
Oh you too? I'm having a scan tomorrow at the hospital. Such a roller coaster of emotions. It's the protein that's in my blood which has given it a high risk. I briefly spoke to a genetic councillor today and she was great. Told me what they will be looking for but also said it may be fine. I'm
So anxious about appointment. When is your appointment?

#15 readyandraring

Posted 20 January 2015 - 09:44 AM

Good luck with your appointment, I will be thinking of you. Mine is on Thursday, we have a scan first and then the amnio. My fear now is that the results will be delayed and I will end up having to wait until Tuesday for them.

#16 Jacksmummy4

Posted 23 January 2015 - 01:19 PM

Good luck with the appointments yesterday. I hope the news was positive :) xxxxx

#17 Indigo89

Posted 23 January 2015 - 05:21 PM

I had my 12 week scan today. I'm not feeling very optimistic but tell me. Has anybody else here had an NT measurement of 10?
I haven't got bloods yet, have to wait 3 days. :(
I'm only 25.

#18 Green lady

Posted 23 January 2015 - 05:57 PM

View PostIndigo89, on 23 January 2015 - 05:21 PM, said:

I had my 12 week scan today. I'm not feeling very optimistic but tell me. Has anybody else here had an NT measurement of 10?
I haven't got bloods yet, have to wait 3 days. :(
I'm only 25.


#19 Green lady

Posted 23 January 2015 - 06:05 PM

In 2008 I had an NT measurement of 10mm for my daughter at the 12 week scan and had a 1:2 risk for all trisomies as a result. My bloods were fine. The CVS came back clear of any chromosomal issues. However a very rare defect was discovered at the 19 week scan called absent ductus venosus. A percentage of babies with this have a good outcome but I was one of the unlucky ones where it caused heart failure resulting in her dying at several hours old born at 28 weeks. The build up of fluid crushing her lungs in utero is now something that I understand can be drained with a shunt. For many a measurement of 10mm is not the end however I would recommend that you have a CVS to at least rule out chromosomal issues and if that is clear you will likely just need more regular scans throughout, particularly of the heart from around 16 weeks. I wish you a good outcome. Stay positive as if there are any issues it may be something that can be fixed.

#20 readyandraring

Posted 24 January 2015 - 06:36 AM

Good morning, the amnio went well on Thursday and the scan before hand was reassuring. I cannot praise the hospital or the staff enough.
I got a call last night after 5 from a member of the genetics team to confirm we are all clear for the high risk trisomies. The relief is huge and while we have to wait for the full results we feel like we can move forward now.

We have to have another scan at 20 weeks to do a further check of the heart but so far all looks fine.

Indigo89 are they going to call you with the results? That is a long wait, I really feel for you.

#21 Puzzles

Posted 24 January 2015 - 06:50 AM

View Posttedofteds, on 02 December 2014 - 05:09 PM, said:

Hi all,

It's been confirmed by CVS. We are expecting a baby boy (our first) who has Down Syndrome. We have decided to keep going with the pregnancy.

I have a little bit of grieve and self pity to process but both my wife and I are feeling ok, and our relationship has never been better.

Our family and friends have all been wonderful in the last couple of days offering their support.

So I guess the next step will be to start looking into the support services to make sure that we are adequately prepared by the time our bub arrives.

Wish us luck!

Ted

Good luck Tedofteds. You sound like a wonderful family and bub is so lucky. I have a family member with downs who was born in the 70's- it was a different time then and now there are so many more services. A whole lot of love is coming your way.
All the best with welcoming your son

#22 Indigo89

Posted 24 January 2015 - 06:49 PM

Readyandraring, unfortunately not. I have to go in to see my gp. I'll be able to go in after work.  She'll have the results and I will push for cvs. I know we need to know more.  But I'm not holding my breath for a good outcome.

#23 Indigo89

Posted 24 January 2015 - 06:54 PM

Thanks Greenlady. It's good to hear others stories, no matter the outcome.  I'm sorry for your loss. It's a hard situation to be in.  I'm sorry you didn't have a good result.

#24 Green lady

Posted 24 January 2015 - 09:22 PM

Indigo89,

Thanks. I hope you have a good outcome - it's is possible. The CVS is definitely your next step. If I could go back and do anything differently I would say don't google. My husband ( who is a doctor) used to say Dr Google was like a moulinex mixer in your brain and in hindsight I would have to agree.

#25 DockerGirl

Posted 28 January 2015 - 12:51 AM

View Posttedofteds, on 02 December 2014 - 05:09 PM, said:

Hi all,

It's been confirmed by CVS. We are expecting a baby boy (our first) who has Down Syndrome. We have decided to keep going with the pregnancy.

I have a little bit of grieve and self pity to process but both my wife and I are feeling ok, and our relationship has never been better.

Our family and friends have all been wonderful in the last couple of days offering their support.

So I guess the next step will be to start looking into the support services to make sure that we are adequately prepared by the time our bub arrives.

Wish us luck!

Ted

I wish you all the luck in the world Ted! The love of a family can go a long way :-)




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