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.

My heart goes out to you for this difficult time you are going through and leading up to your wedding. The others are right - it must be so scary and I can only imagine how painful this time has been.

I wanted to add I think you are doing the right thing waiting - Little princess is spot on - 1 in 200 means 199 chances your baby does not have d/s - that is 0.5% chance .However, the chance of something adverse after amino is 1% -double the risk.

I am assuming that if your baby doesn't have other soft signs or markers the odds she is okay is better.

Someone I know told me a story of a lady being told her child had D/s (in 2004) and she decided to terminate at 18weeks - later the aquaintance said it was determined the baby was normal.

I would also tell your family - something like this need sto be shared so they can support you.


I googled this ...

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Pyelectasis is a collection of fluid in the fetal kidneys causing them to dilate. Pyelectasis is also referred to as “renal pelvic dilatation”. It is a relatively common ultrasound finding, seen in approximately 1% of pregnancies, and is more common in male than in female fetuses. In the majority of cases, the fluid in the kidneys drains and does not have a negative effect on the baby.

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Babies with pyelectasis who are chromosomally normal have an increased risk for urologic problems that may require surgery after birth if the collection of fluid in the kidneys increases throughout pregnancy. If the pyelectasis persists, an ultrasound of the newborn kidneys is recommended. Typically, however, pyelectasis disappears by the third trimester of pregnancy and has no negative effect on the baby.

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I will keep you both in my thoughts and [-o<

Thank you all for your love and support. I swear I would not know what to do with you all.

The ONLY two friends I have told (one with kids one without) both said they would do the amnio in my shoes... THat they would want to know. I think that is probably only becusae they can not feel her doing tricks in my tummy. I'm not going to tell anyone else.

I told my Mum & Dad, they said that they know Matt & I are going to be teh best parents and if we had a special needs child that they know we would still be great parents, and that if anyone could do it - we could... so nice to have family support... I hate that they will spend the next 20 weeks worrying like me, but I guess that is what families are for.

Wedding in 9 days - I am looking forward to that.

28 week ultra sound on 6 April at 10am... I will keep you all updated (they may move this thread to Third Trimester by then?)

thank you all

Good luck with your wedding Cee Cee, and look, you are already one week closer to your next scan!!

i know its hard but what your mum and dad said is exactly right! you will be the best parents that your child could wish for!

Friends can offer advice but until they are in your situation they will not know what its like and therefore the decision is completely up to you!

Good luck Cee Cee!!

Im sorry about your news, though do try and remain positive, it cant hurt.

I have heard through a child care course i did about 8 years ago that an early way to detect down syndrome once the baby is born is to look at the folds of their hands. If the fold in the hand is straight across then the child is likely to have down syndrome.

Hi Kel,
Thanks for your post... I was just lying in bed now thinking about the birth, about how I will be looking at her and thinking "is she alright / is she normal" and not being able to tell unless she looks different?
You say:

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If the fold in the hand is straight across then the child is likely to have down syndrome." Do you mean the fold on the inside of the hand (i.e. also know as life line?)

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Hi Cee Cee,

Yes.. if you look at your hand you have 2 lines that kinda run parallel but dont intersect (i think theyre the heart and the head line?).. as ive heard with a down syndrome baby the line goes straight across on the palm of the hand. Ill be checking myself when my baby's born as im not testing for down syndrom.

Ive been reading your posts and i think when they tell you 1 in 200 chance you think oh my gosh thats so low... but think of it the other way around you have a 199 in 200 chance that your baby will be fine.

My brother in law's sister has 4 children. They tested with all 4 and were told that 2 of them were very high risk, im not sure of the percentages but perhaps even higher than yours. They worried throughout the remainder of the pregnancy and both babies were perfectly healthy and without down syndrome. I guess this is a reason why im not testing as i dont want to perhaps worry over something i have no control of and that isnt definate. But with that, try and remain strong and positive if you can, and just think, 199 in 200 is a bigger difference than 1 in 200 ;)

Hi Cee Cee,
I hope you are well. I will reitterate what everyone else has said 1 in 199 chance is great! I have had friends be in the 1 in 18 category & baby does not have d/s.

My very good friend has a daughter with d/s the same age as my DD. D/S was not picked up on any scans etc. She did not have the specific test as at age 17 was not considered to be in a 'risk category'. We knew from birth she had d/s, low set ears, thumbs & sandle gap were all deteched by a pead on delivery. She is the light of everyones lives such a special little fairy!

Take care, have a fabulous wedding day & please let us know how you are getting on!

Hi CeeCee,
I just read your post and I send lots of love and hugs.

The things that these doctors are pointing out are called 'soft markers'. Things that indicate there may be a problem. I was 38 last August and being from a nursing background I have had a lot of experience with babies with 'problems'. This has always made me quite fearful. Working in this area distorts our sense of reality. The reality is most babies are born healthy. Our odds of having healthy children are very very high.
With my last 3 babies I chose to have amniocentesis even though my nuchal fold risk was very very low. I did this because of the fears I held because of my life experiences both professional and personal.
Amniocentesis risk is about 1:200 depending (and that is really important) on the practitioner. Some practitioners have a risk factor as low as 1:300 (mine does). I had no problems during or after the amniocentesis and in 24 hours after reading my FISH report I felt secure in the knowledge my baby was chromosomally okay. From a personal and professional perspective I believe there is a lot of fear around amniocentesis - there is a risk and a couple need to decide if they can cope with that risk.

Some people suggest invasive testing only be done if a couple would choose to let their baby go. Many many women have amniocentesis and choose to continue with their pregnancy. They are able to prepare themselves for the future. Many women choose not to risk invasive testing and that is right for them. This is such a very very personal thing.

I think it has to be said that a very great number of women who have amniocentesis get very good news. I have a personal friend who was given the odds of 1:12 of her little one having a chromosomal disorder. This was also at the 18-20 week morphology scan. Her baby had many of these 'soft markers'. Her and her partner chose to have amniocentesis because they wanted to know what they were dealing with. That is a very personal choice that everyone makes differently. Little Joshy is the most gorgeous, robust, happy little baby with all his chromosomes in place.

Amniocentesis is invasive and there is a risk that is undeniable. The upside is you have an answer with no more worrying. The down side is there is the risk of miscarriage.

Your own risk factor is the same either way. Did you know though that a 38 year old woman's age based risk of down's syndrome is 1:179? So, you have good odds that your little one will be fine. Many many people well tell you stories of women with far far worse odds birthing healthy babies. These 'soft markers' only indicate the possibility of a problem not that there is definitely one. But any news like this is alarming for parents.

I read a post in here from someone that there was someone told there amnio was clear but the baby had a chromosomal problem. The only possible way that could occur is if the incorrect sample was tested. Having worked in this field in the past that is now almost an impossibility. Human error is possible with everything and can never be totally illiminated but the chances of this happening are extraordinarily low. A patient is asked to check their name, date of birth and sign the label which in full sight of the patient is put on the tube of amniotic fluid which has been extracted. It would be very very rare for a false result to be given. Likewise that a woman was suggested to abort her baby and then find it was okay. I am at a loss as to what to say. In a case like that the hospital and doctor would need to be sued within an inch of their lives. However, having worked in this area I just don't know how that could happen. A woman would never (in Australia) be advised to abort her baby on the indicators of a soft marker or a nuchal scan. The definitive results of an amniocentesis would be used and then a couple would need to decide together on what they feel would be the best for them.

I am so sorry for this torment that you are having to deal with. I just wanted to share another side. I will watch closely for your news in the coming weeks.

Lots and lots of love and blessings,
Deb

skyelar & Flowerchild
thanks for your posts. the wedding was wonderful, given all the stress I must confess I did not even want the stupid thing... but I changed my mind on the morning and it was the most perfect day of my life and I loved it.

Flowerchild: thank you for your detailed post. My doctor said that there are 2 types of Downs, with one type not all the cells are affected, so if you do an amnio and it collects the un-affected cells of the type of Downs where not all the cells are abnormal, you could get a fasle negative for Downs. This is rare, but it did happen to one of his patients.

I guess if I could have my time again I would probably do an amnio at 12 weeks. I will get Private Health insurance next time and get the best doctor in the country to do it. I really do not want to live through this again.

I thought I would love being pregnant, I've waited so long - but really I'm so worried that I'm hating it, every night I think "yeah, one more day gone".... such a shame..

The 28 week scan is on 6 April - one month from today. I of course will keep you updated...fingers crossed....
thanks again

Hi Cee Cee great to hear from you & so happy you enjoyed your special day!
Take care & I will have my fingers crossed for a fabulous scan on the 6th!

Cee Cee - Just wanted to let you know I'm thinking of you. I'm an older mother too (38 today actually) so remember being a bit up in the air when having to weigh up how far to go with testing etc.

I'm so sorry that you have experienced all this anxiety and stress at a time that should be happy for you. Have you considered talking with a counsellor a bit? Maybe this has already been offered to you but if not, it might help clarify your feelings about the screening and any further testing you might want to do.

However it turns out, I wish you all the best.

Love,

Mel

Cee-Cee-

You sound exactly like me when you said you were worried about the birth and that you would be looking her over to see if she is ok or not. I felt exactly the same- even to the point that i wanted someone else to look her over and tell me before they gave her to me so that i wouldnt have to do it for myself.

Well its almost time for me, and all i can honestly think about is seeing my beautiful girl and kissing her all over! The Downs thing hardly ever enters my mind most days. I just want my baby, no matter what.

Once you have had the same amount of time to deal with things as i have, im sure you will think differently and will really look forward to the birth.

Take care