chance of having a downs baby

[wifey01]

Hi,
so on Friday I had my first scan at 13 weeks,was so worried that there wouldn't be anything there,silly as I have been suffering with MS,getting bigger etc,so relieved to see a baby. We chose not to have the downs syndrome tests but during the scan she told me the NT was very thick at 5.5mm. I had a blood test and the midwife seemed concerned. I have to decide on having a CVS or amnio.and will have to travel 2 hours to go to a specialist hospital that can look at the baby's heart in detail. I'm trying not to worry or stress,not good for baby,and I still feel very lucky as a lot of women can't have babies or struggle but its so hard. I'm 25,don't smoke or drink,neither does my husband. Apparently we are the 1% who has a thick NT. I feel so selfish that I want a normal baby (who doesn't) but I also hate the idea if aborting if it has got downs or anything,especially after seeing this little person inside me,wiggling around.
just having a vent,its so hard.

 

[katherinegrey]

Huge hugs, if I were you I would still get some testing. It is of course personal choice, however, if baby does have downs syndrome and you don't want to abort, there will be things in place when you deliver. In my opinion it's best to know before hand so you can prepare properly, be that having specialist doctors on hand at delivery or just simply coming to terms with it yourself. Of course if tests come back normal then that's a big weight off, and leaves you free to enjoy the rest of your pregnancy. I just know if it were me I'd panic all the way through if I didn't know for sure.

 

[nickyb]

Hi,
so on Friday I had my first scan at 13 weeks,was so worried that there wouldn't be anything there,silly as I have been suffering with MS,getting bigger etc,so relieved to see a baby. We chose not to have the downs syndrome tests but during the scan she told me the NT was very thick at 5.5mm. I had a blood test and the midwife seemed concerned. I have to decide on having a CVS or amnio.and will have to travel 2 hours to go to a specialist hospital that can look at the baby's heart in detail. I'm trying not to worry or stress,not good for baby,and I still feel very lucky as a lot of women can't have babies or struggle but its so hard. I'm 25,don't smoke or drink,neither does my husband. Apparently we are the 1% who has a thick NT. I feel so selfish that I want a normal baby (who doesn't) but I also hate the idea if aborting if it has got downs or anything,especially after seeing this little person inside me,wiggling around.
just having a vent,its so hard.

Hi, so sorry your going through this, i know how horrific it is to be told there's something wrong, I've had both cvs and amino. Did u get the blood results did they give a risk % ?
A high nuchal dosent always mean bad news, was there any other markers present?
If u want to know anything about the procedures just ask so sorry Hun try not to stress I know easier said than done

 

[wifey01]

Thank you both for your messages. I think I would want the tests but the chance of miscarriage scares me,I know its only 1% but it was only 1% of having a high nuchal result. Its good to know what other people would do though.
nickyb,I haven't had the blood results yet,but the midwife said she is expecting it to be high chance. The woman who did the scan said everything else was fine. Would love to know about your experience of amnio,nickyb.
so hard to be positive,keep having times where I am positive and feel ok about it,others where I am so worried. Saw my midwife today,who is also a very good family friend,she said she hasn't had any women where they have had a high nuchal but things turned out ok. Didn't want to know that,but I did ask. Pleased she was honest with me though.

 

[Lillypots]

hi please don't listen to your friend. my daughter came back as high risk her nt was only 1.5mm however the bloods were horrific. really low papa and high hcg (signal for downs) and my baby turned out to be ok. whilst I was going through this I scoured the net for stories and I came across so many really high nts where the baby was fine. its not a diagnosis. just 1 indictator. I didn't do the cvs or amnio. I paid for the harmony blood test where theres no risk of miscarriage and a 99.9% chance of the result being accurate which was good enough for me. Only this was it cost me £800 but was worth it. good luck in whichever way you choose to go.

 

[tickledpinkkk]

I also just recently found out today that I am at a high risk of this baby having DS. I was told it was a 1 in 27 chance, and that she would discuss what those numbers meant with me in her office tomorrow. After doing a little research I've read all different kinds of results- some women around the same chance as me ended up having a baby with Down Syndrome, some had babies without Down Syndrome. I almost opted out of getting the blood test done to check for abnormalities because I'm 20 years old and don't have a family history of any chromosomal abnormalities, so I was pretty shocked to hear the way my results came back.

Please keep us updated. I'm interested to hear how everything turns out. It sounds like you're handling everything really well, which is great!

 

[petitpas]

So sorry to hear about your worries. If it helps, the harmony test now costs around £300, I believe. As Lillypots mentioned, it gives you a very accurate result but without the miscarriage risk of amnio/CVS. The results take about 10-14 days to come in.

https://www.thisismy.co.uk/nipt-non-invasive-prenatal-testing/?gclid=CI2awqDNg78CFQIewwodq2wACg

Try not to panic right now. Get as much information as you can and then you'll see what needs doing

 

[nickyb]

How are u holding up wifey?, I've heard of lots of women that have thick nuchals and hygromas and there babies turned out fine, I know someone always has to be the unlucky one, and in my case it was me..

The amino was fine slightly less uncomfortable than the cvs and the procedure was over quickly, the down side is having to wait a bit longer for the amino, with cvs I had it earlier so if the result was bad and u did decide not to continue with the pregnancy, it's earlier as opposed to later with the amino.
With my son I couldn't have the cvs as the placenta was behind him so the consultant couldn't safely guide the needle , so I waited a few weeks and had the amnio

I've had 2 cvs and one amnio I would recommend them as it will hopefully best way give u piece of mind or worse way prepare you.
Please let us know how u are?

 

[AmandaSquire]

I've heard so many case where there is a misdiagnoses of down. Heck even my mother was told that I would have it, and I came out perfectly healthy. I think that any way it goes it's your decision on what to do. But I would caution you to remember that the tests are not always 100% and things can change through the course of the pregnancy. Good Luck with all your testing.

 

[kit10grl]

The results dont claim to claim to be a diagnosis. They give a risk factor so they arent wrong if the baby isnt born with downs and right if they are. It just means you were one of the however many it is who didnt have a baby with downs. Even on a 1:2 risk there will be one baby who does have it and one who doesnt.

There is a good chance your baby wont have downs but even if it does that doesnt neccesarily mean the baby wont be healthy, yes there are health risks associated with downs but not every child will be affected in the same way.

 

[twinkletots]

I had a low risk result and went on to have a baby with Down's syndrome but know of a lot if women who had a high risk result who's babies didn't have the condition.
Nicky b, your perception of being the "unlucky one" is possibly guided by your ignorance of Down's syndrome and what it means for families.
My wee girl is an absolute treasure and adored by her older sister. She had heart surgery but has been extremely healthy since then and our family life is exactly the same as it would have been if she hadn't had Down's syndrome.
I know this is an extremely worrying time for you and after my daughter was born I thought our world had ended. Turns out that was just my own ignorance and misconceptions.
I have yet to meet a family who have a child with Down's syndrome that would consider themselves unlucky and who are not totally in love with their child the same as any other.
Keep us posted x x

 

[HBGirl]

Each experience and choice is different. For her it was unlucky.

OP I had a 1:24 for Down Syndrome in my DD. We had a cvs because our choice was to terminate if she was positive for any syndromes. We were very lucky, she came back clear.

 

[kit10grl]

the tests cant test for every condition. Even if it does come back clear there are many more conditions it doesnt cover so you cant know that babys is 100% clear until after birth, so many people on here start referring to baby being 100% healthy based on the amnio result its very misleading for people

 

[nickyb]

I had a low risk result and went on to have a baby with Down's syndrome but know of a lot if women who had a high risk result who's babies didn't have the condition.
Nicky b, your perception of being the "unlucky one" is possibly guided by your ignorance of Down's syndrome and what it means for families.
My wee girl is an absolute treasure and adored by her older sister. She had heart surgery but has been extremely healthy since then and our family life is exactly the same as it would have been if she hadn't had Down's syndrome.
I know this is an extremely worrying time for you and after my daughter was born I thought our world had ended. Turns out that was just my own ignorance and misconceptions.
I have yet to meet a family who have a child with Down's syndrome that would consider themselves unlucky and who are not totally in love with their child the same as any other.
Keep us posted x x

Firstly working in a special needs school I am far from ignorant! And being a mother to two Autistic children Iam not unfamiliar with special needs!
My unlucky experience was not due to downs it was a rare genetic condition that meant extreme mental and physical disabilities and not compatible with life.

When u are told u are high risk for a chromosome abnormality people assume it's either downs, Edwards, etc however there are many other possibilities
perhaps u shouldn't presume someone's situation without knowing the facts!

 

[Andypanda6570]

I had a low risk result and went on to have a baby with Down's syndrome but know of a lot if women who had a high risk result who's babies didn't have the condition.
Nicky b, your perception of being the "unlucky one" is possibly guided by your ignorance of Down's syndrome and what it means for families.
My wee girl is an absolute treasure and adored by her older sister. She had heart surgery but has been extremely healthy since then and our family life is exactly the same as it would have been if she hadn't had Down's syndrome.
I know this is an extremely worrying time for you and after my daughter was born I thought our world had ended. Turns out that was just my own ignorance and misconceptions.
I have yet to meet a family who have a child with Down's syndrome that would consider themselves unlucky and who are not totally in love with their child the same as any other.
Keep us posted x x

Firstly working in a special needs school I am far from ignorant! And being a mother to two Autistic children Iam not unfamiliar with special needs!
My unlucky experience was not due to downs it was a rare genetic condition that meant extreme mental and physical disabilities and not compatible with life.

When u are told u are high risk for a chromosome abnormality people assume it's either downs, Edwards, etc however there are many other possibilities
perhaps u shouldn't presume someone's situation without knowing the facts!

 

[Rickles]

I had a low risk result and went on to have a baby with Down's syndrome but know of a lot if women who had a high risk result who's babies didn't have the condition.
Nicky b, your perception of being the "unlucky one" is possibly guided by your ignorance of Down's syndrome and what it means for families.
My wee girl is an absolute treasure and adored by her older sister. She had heart surgery but has been extremely healthy since then and our family life is exactly the same as it would have been if she hadn't had Down's syndrome.
I know this is an extremely worrying time for you and after my daughter was born I thought our world had ended. Turns out that was just my own ignorance and misconceptions.
I have yet to meet a family who have a child with Down's syndrome that would consider themselves unlucky and who are not totally in love with their child the same as any other.
Keep us posted x x

Firstly working in a special needs school I am far from ignorant! And being a mother to two Autistic children Iam not unfamiliar with special needs!
My unlucky experience was not due to downs it was a rare genetic condition that meant extreme mental and physical disabilities and not compatible with life.

When u are told u are high risk for a chromosome abnormality people assume it's either downs, Edwards, etc however there are many other possibilities
perhaps u shouldn't presume someone's situation without knowing the facts!

 

[kit10grl]

Maybe she assumed you were talking about Downs because that is what the OP specifically asked about? And she did say it was 'possibly' down to ignorance you made assumptions thus open to the possibility that it wasnt that.

 

[venusflytrap]

Hi. I am the mother to a 9 month old who has Down syndrome. I had the genetic testing done so we knew our odds were 1:15 for Down syndrome but decided not to do further testing. He was born and I was told no Down syndrome. 5 months later I finally was told yes he does have Down syndrome. I wish we had the amino done so I hadn't spent the rest if the pregnancy worrying. Then the next 5 months arguing with my doctor about it before I finally had my answer. He is the best baby ever and the results wouldn't have changed anything. It does come as a huge shock when you find out your baby has Down syndrome. You mourn the baby you thought you were going to have. But then you make new hopes for their future.

 

[steph.]

I know how hard it is, I had high risk of down's for my last pregnancy. At 27 my risk was 1:20. I chose to have an amnio as I had to know, I made sure I went to a very good doctor who had a mc rate much lower than 1%. The results came back clear!

Probably irrelevant to the thread as it's likely coincidental, but at birth she surprised us by being born with a cystic hygroma on her shoulder (which they never picked up on any ultrasound), but we are very lucky as after two treatments it's almost gone. I do wonder if it somehow skewed my blood work and made it come back high risk though :/