# High risk of downs syndrome help!!!



## Sarah_num2

Hiya all, Well got a phone call yesterday morning saying my results have came back saying my wee baby is high risk of downs syndrome 1:34. Going to the hospital tomorrow to talk about things. What sort of things should I be asking, any help would be very much appreciated. Had a lot of problems with this pregnancy, spotting, cramping, alot of blood then a blood clot. Head is all over the place. Sooo worried. Thanks x


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## Szaffi

Hi, ask them if it's based on the NT measurement or the bloood test or both?

They'll offer you further testing - amniocentesis from week 15 or CVS if you are earlier.

Both procedures carry a small (1%) risk of MC - but it depends in the skill of the person performing - but they should give you a definitive answer.

You need to think about what your decision would be if you get a positive diagnoses - i.e. if the baby has Down's - and be ready that in such case they'll probably counsel you to go for an abortion. 

If you don't want the invasive procedures, you may ask for a level II ultrasound, to look for soft markers of Down's syndrome and you can still opt for an amnio later.

Also know that these screening tests have a high 'false positive' rate - meaning that they tell people they are high risk, but the overwhelming majority of those will turn out to be fine. Your odds are still good - in 33 cases out of 34 the baby is fine - that's a 97 % chance.

Try not to stress too much, but try to educate yourself a bit in advance. Last pregnancy I was high risk, and I went to a 'counseling' meeting unprepared and it was a very unpleasant experience. But of course, you may get lucky and be able to talk to a doctor who gives you good information but also listens to what you want!


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## elfin2011

Hi

I got a risk of 1:15 of my second baby having Down Syndrome about 7 weeks ago, and I remember only too well the shock of that phone call and the worry that followed. My first baby had 1:8000 results so I was also very concerned that it was so different. My results were bad because of my blood test results, but the nuchal fold wasn't great either, and my age (35) didn't help matters!

I opted for a CVS the day after receiving the results as we had to know either way, to make a decision based on the results. The CVS itself wasn't too bad, I felt a bit bruised after for a few days but that's all. The initial results took 2 working days and they were all clear for Downs, Edwards and Pataus. The full chromosome analysis took another 2 weeks-ish but that all came back clear too. I've just had my 20 week scan and that showed a healthy baby of good size.

I would be asking the hospital tomorrow what specifically made you high risk (nuchal fold, blood tests, etc.), discuss whether you want a CVS or amnio (depending on how far along you are) and what their risk of miscarriage is, and if you can have a very detailed scan to look for soft markers around 20 weeks if you opt not to have an invasive test done. But perhaps more importantly I would also ask yourself what you would do with a positive result as that is the crux in deciding what to do next.

As Szaffi says, the risk is only 3%, that sounds much better than 1 in 34. If you search the internet (not that I'm advocating this, but I did it at the time) you will find so many stories similar to yours and mine. In the vast majority of cases the results are good. In my searching, I also came across a theory that bleeding in earlier pregnancy can affect the blood test results - I don't know the scientific reasons for this but thought I'd share it with you.

I do understand feeling that you've struggled this far (I had fertility treatment for both my babies and I found it all very unfair to be in this position). The chances are that you will have a healthy baby at the end of this.

I hope that tomorrow goes ok for you and you come to a decision on the next step.

Claire x


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## MeAndMyShadow

Good luck honey, hope all goes well xx


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## Rhiannon

we had a 1 : 35 risk with rhys. i didnt have any invasive diagnosis, as i wanted him regardless, and wasnt willing to risk miscarriage after already losing one baby, and he was born without any problems or chromosomal abnormalities.

i know how hard it is going through it and i more or less convinced myself that rhys would have downs, but he didnt :)

pm me if you like xx


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## Rhiannon

just to add quickly..

...if you want the baby regardless of wether it has downs or not then just go and get info plus a more detailed scan so you can prepare yourself.

...if you wouldnt keep the baby if it has downs then chat about invasive procedures of diagnosis, so you can see what your exact situation is.


xxx


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## Marleysgirl

Blood tests showed that we had a 1:5 chance of Andrew having DS. We opted not to have invasive testing, having made the decision to accept our baby no matter what problems he may have or develop. Andrew doesn't have DS.


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## lottie77

Hi :hugs: we are from the same town I live in Foxbar, I take it your going to the paisley maternity ?? they are really lovely there and take the time to talk to you , my results came back at 1 in 28 chance of downs like you I recieved a phone call and went to see my consultant who went through everything and asked me and huby how we felt if baby did etc so dont worry about asking questions they will go through it all , also my consultant gave me a very detailed scan that went on for a good half hour so if you are not offered that then insist on it, the sonographer said there was no point as its hard too see in a scan but the consultant said yes straight away so make sure you ask too speak to him if thats not who you get . :hugs:

It will be a scary, stressful and upsetting time for you but you will know whats best once you have had the chat and scan , we decided not to have an amnio and now ive only got 5 weeks till induction and all I can think about is will my baby have downs or not I cant sleep at night for thinking about it luckily ive got 2 other children to keep my mind off it during the day. I wish you all the best and hope you get on alright , all the staff are lovely and are there to help :hugs:


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## elfin2011

Hi, just wondering how you got on at the hospital?

Hope you're ok.

Claire x


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## secretbaby

Just saw your post - also wondering how you got on. 

My nucal fold was fine it was my blood tests that made my stats so high.

I am 1 in 15 chance - I decided against further testing (I had PPROM last pregancy and lost my son shortly after birth so couldn't mess about with the fluid) I was very stressed especially as I didn't expect that result (felt bullied into the first test... didn't have the test in last 2 pregnancies). I found talking to a couple of mums on here who actually have children with down syndrome did help put things into perspective more (my boss's daughter also has very severe down syndrome so its not like I didn't know anything about it but didn't feel I could talk to him about it - the ladies on here were fab). 

I think loosing my second child does have a huge bearing on my decision - for me 1% chance of miscarriage is 1% too much. I used to think about the result all the time, now I only think about it when I see a post like yours. 

It is a VERY VERY personal decision wether to have further testing, I am sure that you will come to the decision that is right for you (either way) and you will know what is right for you.


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## midori1999

I'm not sure of this helps get some perspective, but my third son has Downs. I have since then miscarried twins at 8 weeks, then lost twins after mh waters broke at 14 weeks and they were born at 24 weeks, miscarried a single pregnancy at 8 weeks and am currently pregnant again with baby no.9

We have opted to have no testing at all for Downs, not even screening, although if you have a child with Downs they offer amnio or CVS automatically anyway. There is no way I would risk a baby and I don't feel my son having Downs is a negative at all. In fact, I wasn't that maternal until I had him and he has made me a better mother. 

It's a personal decision of course, you should do what is right for you, but having a baby with Downs isn't the end of the world. For me it's certainly better than no baby. The screening isn't very accurate either.


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## Emx

Hi - we were given a 1-50 risk with Lani, with a high nuchal and bloods result - my age (36) also didnt help... We decided agains invasive testing as decided we would progress with the pregnancy regardless of outcome.... we did, however, have a very detailed and reassuring anomally scan at 20 weeks.. 

Lani was born without any chromosomal problems x


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## Sarah_num2

Hiya ladies, thank you all so much for your kind words and support. Went to the hospital on Friday and was told that the nucal fold was ok and it was my blood that put my results high. Have been booked in for an amnio on the 21st and should get the result on xmas eve. Dont no what to do head all over the place. I want to get it done but its the risk of miscarriage thats putting me off. At my hospital they say their percent is 1:200 woman will miscarry. My partner dosent want me to get it done, its the what if the baby is ok and I miscarry thats putting us off and that we would keep the baby no matter the result. He under stands why I want to get it done and will go with my decision. I think I would just worry all the way through the rest of the pregnancy. One min it yes then no, just really cant decide. so hard. 
once again thank you so much will be in touch soon. sarahxxx


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## lottie77

Sarah_num2 said:


> Hiya ladies, thank you all so much for your kind words and support. Went to the hospital on Friday and was told that the nucal fold was ok and it was my blood that put my results high. Have been booked in for an amnio on the 21st and should get the result on xmas eve. Dont no what to do head all over the place. I want to get it done but its the risk of miscarriage thats putting me off. At my hospital they say their percent is 1:200 woman will miscarry. My partner dosent want me to get it done, its the what if the baby is ok and I miscarry thats putting us off and that we would keep the baby no matter the result. He under stands why I want to get it done and will go with my decision. I think I would just worry all the way through the rest of the pregnancy. One min it yes then no, just really cant decide. so hard.
> once again thank you so much will be in touch soon. sarahxxx

Hi Sarah, I went through excactly the same as you one minuteI was really sure id do it beacause it was for the best then the next saying no im not I cant take the risk :wacko: I was booked in to get the amnio done and even turned up to get it done I went into the scan room still thinking im going to do it but when they handed me the form to sign in the scan room to give permission to do it and that it was at my own risk I just crumbled and couldnt go through with it I cried for about half an hour like a crazy women in front of the staff and consultant I never realised to that very second that I was only going to go through with it because my brain and my hubby wanted me too :cry: It is an emotional rollercoaster :cry:

My advice is to keep the appointment and go even if you change your mind beforehand and if you change your mind in the room then thats your right and the staff in the rah maternity are lovely about it as is the consultant they will talk you all through it again, and only you will know what is best for you when you get there, if you have it done then you will get peace of mind either way and remember it is a very small risk and if you dont like me then you need to just get on with the rest of your pregnancy and try too put it all to the back of your mind :hugs::hugs: 
I still sometimes think that I should have done the amnio at the time because now im in the last few weeks its all I can think about but Ill have my answer in 3 1/2 weeks , good luck to you xxxx


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## elfin2011

It is such a difficult and personal decision. For me, there was no way I could get through the rest of my pregnancy without knowing so I didn't really hesitate (plus I was convinced the baby had down syndrome - he/she doesn't). 

I have read that the miscarriage rate is lower than that quoted as that was established as the risk factor before the method of doing it advanced (e.g. using a scan to guide the needle). However, a risk is still a risk, and I appreciate why that causes concern.

As lottie says, there's no harm in going along and seeing how you feel when you're there. If you decide not to do the amnio I expect they'll scan you anyway and give you more information if that shows anything else in terms of markers.

Very best wishes for you, no matter what route you take. 

Claire x


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## lea0610

Hi,just joined today,i got a letter asking me to go a see doc tom regarding test results for ds. Although still worried and upset i just wanted to say reading your posts has calmed me down so thank you all. I hope everything works out ok. Im going to Southern general now wish i was going to RAH after reading this. Good luck all x


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## lottie77

lea0610 said:


> Hi,just joined today,i got a letter asking me to go a see doc tom regarding test results for ds. Although still worried and upset i just wanted to say reading your posts has calmed me down so thank you all. I hope everything works out ok. Im going to Southern general now wish i was going to RAH after reading this. Good luck all x

Hi :flower: I hope you and your baby are okay babes :kiss: let us know how you got on x


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## elfin2011

Lea0610 sorry to hear about your letter. Hope your appointment goes well today, let us know what happens if you need some support.

Sarah, how did it go, did you have the amnio? I have everything crossed for you.

Claire x


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## lea0610

Hi was given results of 1/27 and had the amnio there and then as my head was all over the place, i don't get the results until wed due to xmas but i need to know one way or the other. Im a mess at the moment. Thanks for your support.


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## Sarah_num2

Hi Got the amnio done, had to. I would just worry. They had to take 2 samples as their was blood in it. Got a phone call on thursday to say they couldn't get the first set of results because of the blood. Having to wait for the full results. should get them round the 4th jan, maybe later because of xmas n new year. Not been thinking about it to much. Had the midwife and heard the heart beat which help. Been doing ok just taking it very easy, had a few cramps nothing major. Will let yous no how thing go. xxx


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## Sarah_num2

lea0610 said:


> Hi was given results of 1/27 and had the amnio there and then as my head was all over the place, i don't get the results until wed due to xmas but i need to know one way or the other. Im a mess at the moment. Thanks for your support.

Hi Lea, Hope all goes well on wed for you and baby, let us no how things go, lots of support on hear for you. Big :hugs: Sarah xxx


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## lottie77

Sarah_num2 said:


> Hi Got the amnio done, had to. I would just worry. They had to take 2 samples as their was blood in it. Got a phone call on thursday to say they couldn't get the first set of results because of the blood. Having to wait for the full results. should get them round the 4th jan, maybe later because of xmas n new year. Not been thinking about it to much. Had the midwife and heard the heart beat which help. Been doing ok just taking it very easy, had a few cramps nothing major. Will let yous no how thing go. xxx

Good luck ive got my fingers crossed for you :hugs:


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## My bump

What a brave woman having to make all of these choices and with barley any time to think about it all. I hope your results are positive for you and your oh and things work out well.

All of you ladies have given great advice too xx


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## elfin2011

Sarah, thanks for updating us on how you are getting on. I will be thinking of you today while you wait for those results.

Claire x


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## lea0610

Hi All

Goy my firsy results and everthing is clear, im so happy. Still waiting for the full results but my midwife advised i shold worry and everything should be ok.

Sarah - I hope everything goes well for you with your results.

Just want to say thank you to you all, although hubby was fab it was great have your kind words from people who know what your going through.

Good luck to all

Lx


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## elfin2011

Lea, that's great news!:thumbup: As your midwife said, problems being found on the full results are very very rare, so you can definitely breathe a huge sigh of relief.

Claire x


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## lottie77

lea0610 said:


> Hi All
> 
> Goy my firsy results and everthing is clear, im so happy. Still waiting for the full results but my midwife advised i shold worry and everything should be ok.
> 
> Sarah - I hope everything goes well for you with your results.
> 
> Just want to say thank you to you all, although hubby was fab it was great have your kind words from people who know what your going through.
> 
> Good luck to all
> 
> Lx

That is brilliant news you can relax and enjoy the rest of your pregnacy :hugs:


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## Sarah_num2

Hi ladies, my results came back all clear :happydance: and its a wee girl. So happy, can relax now. Got my 20 week scan on tuesday will be good to see her. My daughter Leia is delighted she's going to have a wee sister. Let the shopping begin :yipee: 

Thank you all soooooo much for all your support through this worrying time

Big :hugs: to you all Sarah xxx


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## Sarah_num2

Lea I'm sooo happy for you, now you can relax and enjoy. Are you going to fine out what your having? all the best Big :hugs: xxx


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## Sarah_num2

Hi Lottie, Guessing you've not got long now? Wishing you all the best. Big :hugs: Sarah xxx


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## My bump

Fab news to both of you xxxxxxxxxxxxx


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## elfin2011

Yay Sarah that's great news, so pleased for you!!!!!!!!!!!!!!!!!!!

Claire x


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## hazeldavis

Hi. I am writing a feature for a national newspaper on Down's testing (based on my own experiences) and I am URGENTLY looking for people to interview who had a high-risk result of Down's and then went on to have babies with NO chromosomal abnormalities. Please PM me if you can help. I just need a very quick email or phone chat and you can be anonymous if you like. 

Thanks!


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## lottie77

Sarah_num2 said:


> Hi Lottie, Guessing you've not got long now? Wishing you all the best. Big :hugs: Sarah xxx

Thats brilliant news Sarah :thumbup: you can kick back and enjoy the rest of your pregnancy now , really chuffed for you :hugs:

Ive got the consultant this Monday for a sweep then being induced this wednesday morning im so nervous but im keeping positive for a good result :hugs:


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## lottie77

Hi ladies just an update to let you know I had my baby girl Rebekah on the 13th January and she did indeed have Downs Syndrome which was a shock for a few days but we soon got over it as she is such a wee darling :baby: , she is very healthy weighing in at 8lbs 11oz at birth and she is very healthy which is the most important thing to me and of course not missing out she is very beautiful :kiss::kiss:


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## midori1999

Huge congratulations on the birth of Rebekah! 

I hope you are finding things OK and peopel around you can share in the joy of your newborn. 

My son has Downs and will be 7 in March, feel free to PM me anytime. :hugs:


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## ccb725

lottie: Congratulations on your new addition. What a big girl! I have a little guy with down syndrome and he is truly the light and love of my life. He has positively changed my world completely and has brought such an unexplainable joy to us all. 
Please feel free to PM me if you have any questions or would like to chat.


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## Caezzybe

Lottie, congratulations on the birth of your lovely baby girl :) I have a 5 month old baby boy with Down's Syndrome and he is absolutely wonderful, after the shock of his diagnosis he has given me a lot of joy and love. There are quite a few of us around, have you found the Special Needs parenting section of B & B yet? https://www.babyandbump.com/special-needs/


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## elfin2011

Lottie, just wanted to say congratulations on the birth of Rebekah!! And what a good weight! Wishing you all the very best for the future.

Claire x


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## mom22boys

Hi Just reading, I would like to say that I had the 15 week blood work and mine came back great. I ended up having a child with Down Syndrome. Test can be wrong. Good luck!

After reading further I see your test came back that everything is going to be ok. I have had several friends that have had the same thing happen and everything ended up being ok. 

I would like to add, that having a child with Down Syndrome has been a blessing like no other! They are angels sent from God. I am so lucky to have my little guy in my life!


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## mom22boys

lottie77 said:


> Hi ladies just an update to let you know I had my baby girl Rebekah on the 13th January and she did indeed have Downs Syndrome which was a shock for a few days but we soon got over it as she is such a wee darling :baby: , she is very healthy weighing in at 8lbs 11oz at birth and she is very healthy which is the most important thing to me and of course not missing out she is very beautiful :kiss::kiss:

Congratulations! January 13th is my birthday too! Glad she is heathy sounds like you are doing well.


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## mmmsrb

just posting for other people reading that are in the same situation , my lil girl's chances came back 1:16 for down syndrome. it's not uncommon to get abnormal results in those blood tests, and almost always the babies have NO abnormalities


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## _Lexi_

I got back high results yesterday, 1 in 21 and had the cvs this morning. Should get my results Wednesday/Thursday as to whether anything is wrong x


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## Andypanda6570

_Lexi_ said:


> I got back high results yesterday, 1 in 21 and had the cvs this morning. Should get my results Wednesday/Thursday as to whether anything is wrong x

Just wanted you to know I was thinking of you and sending all the best and positive thoughts xoxoxoxoox :hugs::hugs::hugs::hugs::hugs::hugs::hugs::hugs:


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