1 in 200 chances of Downs

I did my first scan today at 19 weeks, they found a diluted kidney which in itself is a small problem, but of greater concern to them is that it means that my baby now has a one in 200 chance of having Downs.

I’m so confused and don’t know what to do.. I know I don’t want a CVS as there is a one in 200 chance of it causing a miscarriage, so they have offered me another scan at 28 weeks to see if anything has changed.

So, now what. I sit here and wait and stress? I feel so alone and ashamed, I’m so ashamed to even tell my family. Is anyone else is this position? Has anyone else been in this position? Can you share your story?

Please don't feel ashamed. It is nothing you have done. Don't feel alone either. You know there are many girls here who will support you through this. It will help alot to tell your family, because then they can give you the support you need at this time. I am sure they will not give you a negative response and will appreciate that you told them.

Cee-Cee,

I know exactly what you are going thru!

I was in your position at 19/20 weeks when we had our scan. It showed bub had a high neck thing measurement (not sure what its called, but its the downs thing) It was all very confusing as nobody at my hospital quite knew what to make of it as bubs was measuring just over the time frame for this to be relavant or not and there was another factor that indicated downs.

TO be honest, it was the hardest time of our lives and it still continues today as we decided not to do amnio so its just wait and see for us. We told family straight away, its not something you can go thru alone.

I dont know what advice to give you. All i can do is tell yu that for me, some days im sure she wont have it, and then otherdays im convinced that she does. All we know is that we love our little star and that no matter what happens we will do our best to give her all the love and support in the world.

Our odds are about the same as yours..... you need to realise that the chances are that your bub is just fine. I mean, 1 in 200!! thats great. You have to keep telling yourself that becaus at times its the tiny little less than 1% chance that bubs has it that will be playing on your mind.

Dont be ashamed! There is nothing to be ashamed about!!!

If you want to talk, feel free to email me. Take care and know that its going to get a bit easier to deal with after you get over the shock and you can put it all into perspective.
xx

Thanks Emma,

I'm not sure how you got through the last few weeks...
THank you for the offer of email, I would like to take you up on the offer over the weekend - when I get my head around everything...

I'm too ashamed to tell any of my family friends... I've done some more research - I think this is what it is call:Pyelectasis

What is the Risk of Down Syndrome in a Fetus with Pyelectasis?

Presently genetic testing of the fetus (amniocentesis) is offered if the risk of Down syndrome in the fetus is 1 in 190 or greater. For a 34 year old woman the isolated finding of pyelectasis at midtrimester increases the risk of Down syndrome from 1 in 365 to 1 in 192.

So, now one in 192! I am 35 in July....

I hope and pray that our little girls are going to be OK

thank you so much for sharing

Hi Cee-Cee,

I just thought i would post in here as I have a sister with Down Syndrome she has just turned 14, when my mum was pg with her, all the scans and tests come up fine(inc Ameno), it wast til an hour after she was born that the Dr came in and said She has Down Syndrome. Although it was devestating news (i was in there when they told my parents) we wouldnt change it for the world.
Through the years I have learnt so much about the disability etc that your chances of having a child with Downs is really unlikely. Trust me.

There are 2 types of Downs 1/ Is Hereditery and 2/ non-hereditery
My sister is non hereditery.
But through the tests these days you they are able to pick it up, and then you will have options.

Its scary thinking of all the "what if's" especially when they have been brought to your attention. But you just have to remember that god chooses who wil parent a disabled child, and that you have options too if he chooses you.
Its hard work bringing up a child with a disability, but so is any child. My mum went on to have a set of twins after my sister, who were fine or "normal".
There is a vast range of support and guidence out there these days you will never be far away form help of any kind. Noone would think any less of you if you found out and chose to abort, its a really hard decision to make to keep or not when you have the answer in your hands. I just hope you wont go throught this alone and will seek the support of family and friends.

Think positive thoughts and the right thing will happen.
Keep us updated and my prayers are with you.

Anytime Cee-Cee!

Try not to do too much searching on the net. I find it really freaks me out and just increases the stress... hmmm this coming from a girl who spent last night in a panic after finding out high amniotic fluid levels are another sign of Downs - well what do you know, i have a high level. Even tho its more of a sign of GD-which i have- im focused on the downs. Im going to TRY not to do it anymore. I looked up some info on Downs back then and found i couldnt really face it. A couple of months later i did it again, to get an idea of what we could do to make the best of it if she had it and i found i was more ok with it. But now, im not looking into it any further. I will do it IF i have to once we know for sure.

Oh please dont be too ashamed to tell your family. We were told about her chances and that we had to make the decision if we wanted the amnio and then if we wanted to terminate based on the results all at one Drs visit. The family were really supportive, offering help and letting us know that it didnt matter to them if she had it or not and that they loved her anyway. It really seriously helped us deal with it and make the right choices. I was ashamed too, i felt like i didnt want bubby anywhere near me but at the same time there was no way i was letting her go, not for this. It wasnt a good enough reason for us. I know it makes you very confused when something like this comes up.

Take as much time as you need, im not going anywhere!

Also, im 24 and our chances are 1 in 182!!

Naomi, how did they know an hour after she was born??

I keep asking how long it will be and they keep telling me that its not always obvious in newborns and that i wont know till 48 hrs as they have to send her cord blood to melb to test it. ](*,)

Oh Ok, well when Gemma was born her heart valve hadnt closed over properly and she wasnt breathing properly either, so they rushed her out and did tests etc and then i think it was an hour couldve been less or a bit more (i was only 10 and time had a different prespective for me back then) and they came back and said they were 80% sure she had Downs, as she had a lot of physical signs of a Downs child aswell. They may do it differently these days, im not to sure.

oh i see Naomi, thanks for that.

Not a problem am always here.

If you do decide to look further into it, check out the Down Syndrome Society Site and get in contact with Jill Phillips (although she is from SA), she will be able to help you both through this aswell adn give you some further insight on what your options are. IYKWIM

Goodluck with it all, and I too am here and not going anywhere.

Did you get the screening test done for down syndrome when you were 12-15 weeks??

I have also been told that my babys kidneys were slightly enlarged and i have to go back at 32 weeks for another scan, but they said it wasnt a risk of downs?? How come they said yours is?

Hi Cee Cee.. Firstly a bug hus to you.. You must be quiet worried at the moment.. It is hard to think about the numbers the other way around isnt it...

If someone told you then you have a 199 chance in 200 of a normal chlid then you probably would not be worried about it all all.. She when it is focused on 1 in 200 you start to worry..

My 12 week NT with DD was 1 : 12 and we freeked out.. She had a very large measurement on her neck and that combined with my blood test gave us this horrible number.

We decided to have a CVS, and although our DR advsied us the risk was 1 : 100 for a m/s we went through with it..

We paid the extra money to have the fish test and after a few days we had the result of "Femal - normal " so we were able to enjoy the rest of our pregnancy..

I am the kind of person who is happy to have every test under to sun to know exactly what is happening to my body / pregnancy.. I would rather have know if my child had a condition before birth so i would be able to contact and establish a support network prior to birth to deal with everything.

Not sure about the kidney issue, so can say much but "hugs" and i hope it all works out ok.


I think at your pregnancy you would have to have an amnio not a CVS, i am not sure the m/s rate on this.

So more hugs to you cee-cee, and i hope that everything works out fine for you and bubs..


xoxox Anna

Girls, thank you for your replies:
Naomi - thank you for your input, I'm not sure if I'm ready for the reality of the situation yet. So I may come back to your reply after I've spent some more time with my thoughts. I just don't know where I stand.

mizzsocial - our nathropath advised us against the 12 week scan as there is a theory that the heat can harm the baby (just when it is developing). So we did not do it. Can I ask how large your baby's kidneys are? Are they both large? My doctor said the concern is based on the fact that one kidney is large, and one is normal - he said if they were both large, or both small it would be better? (As some babies have larger or smaller kidneys)..So your baby is probably fine.

Anna - amnio is actually one in 100 I've now been told. I've also been told that I could do the fish thing as well, as if we decide to terminate then I would have to do it this week (two weeks before my wedding - not that this is not WAY more important), or we would have to go to an "Ethics Committee" as they would have to kill our baby. Something my partner would never do as he strongly believes in God. I'm so glad your baby is going to be allright. Not sure I could do it either.....

I think I would have done exactly the same as you has I been given your Stats at 12 week... One thing is certain, next time, I'm going to do the 12 week scan.

I will have a 28 week scan to see if the condition has improved or gotten worst. I will keep you all updated.

thanks again

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mizzsocial - our nathropath advised us against the 12 week scan as there is a theory that the heat can harm the baby (just when it is developing). So we did not do it. Can I ask how large your baby's kidneys are? Are they both large? My doctor said the concern is based on the fact that one kidney is large, and one is normal - he said if they were both large, or both small it would be better? (As some babies have larger or smaller kidneys)..So your baby is probably fine.

thanks again

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The doctor told us that the babys kidneys were "slightly prominate" measuring at 4mm (from memory)..

Its such a hard thing when you yourself dont know medical terms etc, some doctors seem to talk in riddles, where as others are more patient etc..

At least you get to have another scan at 28 weeks....

what happens if you have the scan at 28weeks and there is no change?
They said if my babies kidneys havent changed at 32 weeks, then we just have to wait for the baby to be born, and do some furthur testing then.

one of my pumkins kindneys is 5mm (which I was told was fine) the other is 7mm.. the doctor said he has seen them as large as 19 mm, so mine was not a major concern. However it was a concern that did need follow up.

If the 28 week scan shows a normal kidney it does not impact the Stat's for Downs, the fact taht this has been highlighted means taht it will not go away, regardless of further tests. She will still need the scan after birth.

We will not know until she in born...

Ahh ok... i was also told that if my scan shows no changes in the kidneys, then the baby will need a scan after birth.. i guess its just a waiting game.. hang in there, i know its scary.. try and enjoy your pregnancy :)

Keep me updated.

I know a lady who went through something similar just the other week but she had a 1 in 9 chance of having downs, so she had the amnio and her results came back fine.. It is a scary thing being told something isn't quite right.. *hugs*

Gosh I don't know what to say, you poor thing. I hope and pray all is ok, thinking of you.