*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.