My story - 'Negative' results from an Amnio/CVS.

*Please do not read ahead if you do not want to read about 'negative' results of an Amnio/CVS, it does however have a happy ending even though my girls were born with additional needs*


There are alot of threads on BB from woman who are going through the difficult time of receiving a high risk result in their NT scan.

For many of these woman their immediate question is do I or don't I have an Amnio/CVS to determind if my baby does have a chromosome abnormality. This is a very personal decision that can only be made by the parents however I would like to share my story as to how choosing to have further testing done has helped me.


My DD1 was given a 1:3 chance of downs syndrome with a nuchal measurement of 8mm. Termination was not an option for us however we decided to go ahead with an Amnio in the hope that we could prepare ourselves if she did indeed have DS or another chromosome abnormality.
Our DD was given the all clear for DS on the FISH test and we thought that meant I was carrying a healthy little girl however two weeks later once all of the testing was complete we were imformed that our baby had a rare chromosome deletion.
I was given a list of abnormalities that could affect my baby and I had fortnightly ultrasounds throughout the remainder of my pregnancy to try and detect any problems, the ultrasounds all went well and no abnormalities were picked up, if we did not know about the chromosome deletion we would have assumed we were carrying a healthy baby.
The delivery of my little girl was scheduled and we have a team (due to knowing about the chromosome deletion) on standby knowing that when my baby entered the world she may need there help and we are lucky we did, my DD was born in respiratory distress and needed to be resusitated she was taken to NICU and this became her home for the next 3 months.
My DD is now 19 months and yes she does have additional needs however if we did not know about the chromosome deletion we may not have had the team there and I hate to think of what 'could' have happened.
When she was diagnosed we were given a horrible report showing that she would have severe physical and intellectual disabilities, we were also told to terminate as she would not have a very good quality of life, we left it in her hands and we are glad we did. My DD does have special needs however if you saw her you would not know, she does have a tube for feeding and she still cannot walk (but she is getting there) however this is all of the physical signs that you can see, she is delayed for her age however she is in no way lacking quality of life she is just as able as any other toddler and is an incredibly happy little girl.

My DD2 was given a 1:2 chance of DS also with a nuchal measurement of 10mm. Once again termination was not an option but we wanted to prepare as we already had a beautiful girl with additional needs, this time we opted for a CVS and all of the results came back clear.
By getting the all clear the ob knew that there was a high chance that the nuchal measurment may be a result of a heart defect. At our 18 week ultrasound my ob concentrated carefully on the heart and she did indeed have a heart defect.
My DD2 also had a scheduled delivery with a cardiac team on standby she was born very healthy but taken to SCN nursery at birth, she underwent open heart surgery when she was 6 days old and was able to come home when she was 16 days old.
By ruling out a chromosome abnormality the ob knew to look closer at her heart and it also enabled up to prepare with having a toddler and a baby in hospital.

My intention is not to scare people in any way. Of all of the people I have known to be given a high risk result I am the only one to have a 'negative' result from the amnio/CVS, everyone else has gone on to have healthy babies.

I am posting basically to show people the other side of the fence, to show that there are benefits to knowing even if you have no intention of terminating.

I do not have any regrets, I am glad that I got my Amnio and CVS and if I get a high risk result next time I will do so again, it has enabled me to prepare myself and I think I am amazingly strong because of it.

I love my girls and I would have it no other way, the complete experience has made me the wonderful person that I have become today and I am proud to say so.

Thank you so much for sharing your story. I am sure a lot of BB mums and dads will benefit. You are amazing!!

Thank you for sharing Daintree Dream. I think it's great to hear such a positive story' :hug: what an amazing mummy you are!

Great idea sharing your story hun, you are one of the most positive and strong people I have ever met, with the most gorgeous girls!!

Thankyou so much for sharing your story DD

You are an inspiration to all

Thanks DD - a very helpful post :)

DD, thankyou so much for sharing your story, it is wonderful to put it all in perspective and gain a greater understanding of what you went through and why, and how it helped you and your family prepare, and it was that preparation that has made a huge difference for both of your precious little girls.

You are doing an amazing job and you have show parmount strength and courage to go through what you have and come out the otherside and be willing and able to share your story.

You ROCK!!!!
xxoo

Hi DaintreeDream,

I have had a similar experience. 1:5 risk for DS, but it turned out to be trisomy 7 mosaicism. CVS detected it in the placenta, amnio didn't find it in the baby.

I have been having 4 weekly scans to check growth and potential problems. The scans have all been fine, but there is still some uncertainty. It is possible that this baby has normal chromosomes or it is possible that it has trisomy 7 mosaicism.

I am wondering about the medical team that was there at your DD1's birth? Why were they there if the scans were normal? Were you expecting issues or where they there just in case?

I need to talk to my doctor about this, but at this stage it seems we will be treating this as a normal birth. No plans for any additional help for my baby.

An amazing story, from an amazing person!

Thanks for sharing :)

Thanks for sharing, Daintree Dream. I think knowledge can be very empowering and it's so positive the way you used your knowledge to prepare to welcome your DDs in the best possible way. :hug:

:clap::clap::clap:
Thanks for sharing your story DD .... you really are an amazing woman, and the strongest, most courageous mother to your girls.
:hug:

Daintree - Thank you so much for sharing your story! Your girls are beautiful and you must be so proud of them. You have every reason to be proud of yourself and you are a wonderful person (I've been seeing you around this forum for a fair while now! :) ).

I wish you all the very very best for the furture with your gorgeus little family.

Thank you :hug:

I too had a high risk result from my 12 week scan 1:3 my babies neck measurement was 3.4mm. When the blood work came back the combined result improved quite a bit but not enough to rule out amnio..that ruled out a chromosomal abnormaily,. but we have since found out she has a very damaged kidney, (which may or may not be part of a syndrome, so far nothing has been found)I think it is a good idea to prepare for the what ifs, no matter what you intend to do, thanks for sharing your story it has certainly been a rollercoaster ride...mine has 10 weeks to go before we get the full answers but again I would'nt change anything, I look forward to meeting my beautiful baby girl.

Thanks for sharing your story about your beautiful babies.
Sue xx

That was very informative - thank you DD.

thank you

Thank you so much for sharing DD. We didn't have as high a risk factor as you when we had our amnio and we didn't go into it with the thought of terminating, it was to simply to know all that we could about our baby and prepare oursleves.

You are amazing DD and an awesome mother, your girls are very lucky.

Thank you for sharing your story DD. :hug: Your girls chose such strong and loving parents. :D

Daintree thankyou so deeply for posting your story. It will help many I am so sure.
You are incredibly strong & courageous - your girls are so very blessed to have you as Mama. :hug:

Thank you for sharing DD. Your story has given me a whole new perspective on amnio/CVS.
Xx

what a beaustiful story, thank yu for sharing it with us :hug:

Thankyou. I am overwhelmed by your responces. My intention was not to get praise but thankyou it means alot :hug:.

Hi HollyC - Your experience does sound very similar although a different chromosome is concerned (my DD's is 5q). I have just had a look at confined placental mosaicism and I can understand why you are having monthly scans and the fact that they have come back clear is a positive thing. From what I understand there is a very high chance for you that baby will not have a chromosomal problem but there is always that small chance there and it seems that you are taking that small chance into consideration and I personally understand this and would be doing the same even though it is highly likely your baby will be born healthy. I will send you a PM.

Michelle71 - :hug: I am praying for you.

Thanks for your post, Daintree Dream - it made me think about the other reasons for having the tests at 12week. We decided not to have the 12week scan, because we knew that we wouldn't terminate, but I had never thought about having them so that we could be prepared for any eventuality. Its definately something to consider for the future!

Thank you for such an eloquent post.

This was the precise reason we went for an amnio - to know exactly what was going on with our baby and to be as prepared as possible for whatever medical needs she might have - particularly if she needed urgent medical care immediately after she was born.

I have found it hard to explain this to some people who have thought that because we were going for the test it would automatically mean we would terminate.

I've had people say proudly "I didn't get the 12 week test done, I don't believe in it" in a very holier-than-thou manner. I have never had the words to defend my choice in a way that they would understand. Now I do.

Thankyou so muc for your story. My baby girl had a high nuchal reading which we could see very clearly at 9 weeks. We were advised to terminate, but didn't which I am forever thankful for. Her CVS results came back fine, though were still told chance of a heart defect or something else they may find when born. However she was born healthy and perfect - Just like your 2 girls are in their mums eyes! You are a wonderful, positive mummy!