High risk of Downs Syndrome

[LeBe]

Was anyone else given a high risk of downs syndrome? I had the two blood tests done (one at 12wks and one at 14) but wasnt offered the nuchual sac test. I am 23, have no history in the family and am fit and healthy so i was (perhaps naively) assuming it would be fine but the midwife rang to say it was 1 in 150 when it should have ben 1 in 1000. I decided against having any further tests but have to admit it has been in the back of my mind ever since although people keep telling me it is quite good odds really. I know for a fact it would make no difference to how i feel about my baby i will love him to bits no matter what but everyone wants their baby to not ahve any problems dont they.

Does anyone else have any stories they could share?

My friend carried twins and was told that one of them had a 1 in 75 chance of having Down Syndrome and other complications.She was 32.Both of them were absolutely fine.It is difficult with statistics.I am 37 and pregnant and have to say i feel anxious on and off about it.Having my bloods taken in 2 weeks.I expect there will be others with their own experiences on here soon.

Hi Havent had this myself but there was a thread with the same topic a few days if you scroll down the topics I think its probably half way down this page (sorry cant do links!!) Hope that helps xxx

Hi LeBe

I have a 4.5 yr old with Down's syndrome. Was 30 when I had her.

I was low risk with my bllod tests with her so had no more testing.
With DD2 I was massivley high risk and she doesn't have any special needs.

Having a child with Down's syndrome has it's challenges but it's also so unbelievably rewarding.
Lottie is amazing, seriosly. She's really funny, incrediblu cute, very cheeky and naughty. Answers me back, is stubborn, can be a little beast. She's also caring, sweet, gentle, loving, giving. To be honest, she's much like any other child ( well maybe just a teeny bit more special!!! )

Having a child with special needs has changed me and those around me, for the better. We all are a lot closer and are more united.

It isn't always easy but it really isn't that hard either.
It took me months to tach Lottie how to climb the stairs, she was probably about 2 yrs old, my 2nd daughter looked at them at 7months old and just climbed straight to the top.
It was so rewardign teaching Charlotte how to climb those stairs, it really was, I'll never forget it.

Ohhh Lebe, I could wax lyrical all day about her.
Have a look through special needs for past posts from the ikes of myself and edisvold and others. None of us would change a single thing about our kids.

I'm happy to answer any questions you may have, either now or in the future. Any little niggle, just say. okay.

I was 1 in 125 chance with ds1 - afp and age. We went for counselling, had genetic test and then abnomally scan. However once I'd seen the baby there was nothing else to do as far as we were concerned for there was no way we could abort as we'd seen our baby, so I refused the amnio as that carried a higher risk of miscarriage. Whatever the outcome we were having the baby. Francis was born healthy without any complications. But it was a very very stressful time awaiting the scan but the anxiety all disappeared once I'd seen the baby regardless. I went even one better with ds2 and was a 1 in 25 chance of Spina Bifada - again baby born without problems.

I had the blood test at 16 weeks and was told I had a 1 in 102 risk of having a downs syndrome baby. I decided against having amnio as I didn't want to risk a miscarriage. I gave birth to a healthy baby girl and hopefully everything will go well for you too.

LeBe I was in almost exactly the same situation as you and also decided against further tests. DS was born without Down's, but by that point I had prepared myself pretty much and read up about it, and read stories such as TC's which helped a lot.

I think one thing that is difficult is that the medical profession get so up in arms about it, with their label of "high risk" and encouraging you to have tests and generally behaving as if a 1 in 150 result is the worst thing that's ever happened to you. We actually had a midwife come round to our house with a face like thunder telling us it was "bad news" - I was a wreck, thinking she was about to say the tests had showed the pregnancy wasn't viable or something, and it was a "high risk of Downs" ie in in 180 - I could have slapped her.

I definitely found talking it over, both in RL and online (though on a different site as I hadn't then discovered MN!) helped a lot and reading up about Down's and getting my head around the possibility helped too.

I was given a 1 in 40 chance after anomalies were picked up at my first scan with my son. As the consultant said, though, this meant a 39 in 40 chance of no complications. I had no real issue with it (my brother has ds) so had no further testing either but it was still in the back of my mind and was the first thing I wanted to know when my son was born. You shouldn't feel bad about that, it's only natural. My son didn't have downs.

Don't let it cloud your pregnancy, enjoy it just the same. They sound pretty good odds to me, and Thomcat and others are testament to the fact that life with a child with ds is the start of quite an adventure and one that they would never change.

Thanks for all the advice guys.

Thanks Thomcat for showing that it isnt the end of the world, i knew really that it wasnt but i just worry about my baby having a harder time than most.

I think not knowing anything about Downs before didnt help and the fact that i was so confident it would be ok.

I have tried really hard to put it at the back of my mind and not let it put a downer on my pregnancy and i am just so excited now about meeting my little man that it really isnt as much of a worry as before i know he will be perfect to me no matter what.

But it is good to get other peoples opinions so thankyou very much

1 in 150 chance of having a downs syndrome baby means that you have a 99.3% chance of having a baby that does not have downs. that sounds like good odds to me.

if your risk had been 1 in 1000 you would have had a 99.9% chance of having a baby without downs. Do those seem very different to you? not to me when you are talking about statistics.

Nothing is certain so why worry about the difference between 99.3% and 99.9% - Either way things are 99% certain to be OK and as I said what in life is 100% certain?.

You'll get some wonderful advice and support on mumsnet LeBe.

It really, really isn't the end of ther world.
There are so many far, far worse things that can happen.

When I first had Charlotte (I didn't know before hand) I was really shocked. I spent the first day in tears, but in-between also feeling very happy, I'd just had a baby girl. Once I had the all clear on her health and knew she was going to live (I just didn't know what was going on at the time) I bonded with her massively and fell completley in ,ove. However part of me kept waiting for the world to collapse and for me to break down. It never happened. Life just kept getting better and better and with Lottie around it always will.

Good luck to yo lebe.
hope we talk more
tc xx

When I was pregnant with my DS, the AFP test results gave me a 1 in 25 risk of having a baby with Downs Syndrome. I decided to go ahead and have the amnio, and it came back fine. I've also found out since that several of my friends have had a high risk for Downs and had amnios and all babies have been fine.

so glad you write that Thomcat.
was discussing this with my MW today and I said "Why do people think Downs is the worst thing? Surely there any many more things which could be worse?"

(Obviously I can't say it as eloquently and personally as you but I know what I mean! )

Hang in there LeBe - keep coming back here for supprt - especially from Thomcat

Hi LeBe

I was in exactly the same situation just last week, I'm 24 with first pregnancy and was given a 1:15 chance! Well I decided to have the CVS simply because I needed to know even though I intended to continue with the pregnancy no matter the result.

I had to go to another hospital for my cvs as my consultant was away, when they did their test, the nuchal measurement was completely different (1.7 whereas previoulsy it was 3.8) so they took my blood to do a combined test, I just got my result from the midwife and I've now been given a 1:27000 chance!

Obvioulsy its wonderful news for me as although I had decided to keep the baby DS or not, its obvioulsy still a relief that I might not have to go through that.

Hi LeBe,

I had bloods done for triple test at 14 weeks and it came back as 1 in 110. I had just expected everything to be fine as I am 27 and thought the risk would be really low. We decided to have the amnio and the results came back as normal. The odds are in your favour remember - it is just scary when someone labels your pregnancy as high risk.

N1 - good to read your news.

Lebe - as many people have said results can be really confusing. Many people are given a 'high risk' reading and hav e children with no special needs and others are given low risk reading and have children with Down's syndrome or other special needs.
It's the reason I bloody loathe these tests, I really do. They are such a worry.

Like TC i have a 4yo with down syndrome. We knew basically before she was born that she had a heart defect as well as a very high chance of ds. In fact we were told that if she was born without down syndrome it would be very rare. Dd1's heart defect is very common amongst children with down syndrome. However her heart defect was repaired at 8 weeks old and her heart is now almost as good as new.

We were offered an amnio and chose not to have one. We were not concerned with the down syndrome. Dd1's cardiac surgery was carried out at the Royal Brompton - only cause that is the hospital that our local hospital worked with iyswim.

Her heart defect was detected at the 20 week scan and we were then referred to the Harris Birthright Trust where a fetal cardiologist gave us a fetal cardiac scan and a correct diagnosis.

The info that Geekgrrl has given you the link for is good info. I decided against an amnio simply because we had decided we would have the baby and did not therefore see the need for the amnio.

With dd2 - again i was given a higher than normal risk for down syndrome as they found echogenic focii in her heart. Again we refused an amnio - nothing anyone could tell us about down syndrome - it was our reality. I do know that other people in my position would have the amnio as they needed to know but for us - again she was our babe and we would not be doing anything about it.

I am now pregnant a 3rd time and whilst dh wants me to have a nuchal fold test ( am now turning 38) I am quite happy not to have one and know no matter what the risk comes back we will not be having any further testing apart from the 20 week scan.

Most heart defects that children with ds have are very common and whilst serious are still repairable. The one my dd1 has basically means she has no central wall in her heart to divide her four chambers as well as the av valve being dodgy. They simply put two patches in her tiny heart and repaired the valve. As she ages and grows the heart will grow around the patch. In terms of future surgery - she may need further repair to the av valve but that would be as a teenager if at all.

Sorry for the long post but I just wanted to share my story with you.

I would strongly recommend contacting the DSA UK - even just for someone to talk with. Dh found that really helpful.

Anything you want to ask - feel free. If you want to email me - edwali at excite dot com.

My dd1 is a very delightful, cheeky amazing girl who attends a mainstream kindy as well as a kindy for children with sn and delights all who come in contact with her. She is a big sister who adores her little sister. Since we moved to Aus she has come on in leaps and bounds.

Thankyou eidsvold for sharing your story it is really nice to hear how real mums actually cope with things instead of reading scenarios. I decided against amnio for the same reasons as you he is my little man no matter what and i didnt want to risk loosing him even though the percentage is low but i do understand why many people choose to have it done, cos i know if there was a way to find out with no risk i would of had it done in a flash, not because i would have done anything about it but just so i knew and could get my head around it and read up on some stuff. I know i could do that anyway but then i think do i really want to read all the information and problems that can occur etc. before i know for sure cos i believe it would make me worry even more.

Did you recieve enough help afterwards, same question to you Thomcat if you dont mind me asking, i always assume that you get an abundance of help and advice but know that not always to be the case.

Its been really good to hear alot of people have had the same and even dramatically higher risk than me and the baby has been fine, plus i know realise that even if i am the 1 in 150 its not the end of the world by any means and i will still have my longed for son that i was told previously i would never had.

Lazy cow thanks for the stats i never really worked it out that way before, it really isnt alot different is it, i am now angry with the midwife for making it sound so bad they should really explain better so people dont worry so much, you are so right about nothing in life being 100% and there are a million and one things that can go wrong that they dont even tell you about let alone test for!

Thankyou so much everyone i do appreciate the support i feel so much more positive about things now xx

Hi LeBe, I got tons of support and advice from not opnly friends and family but the NHS. I eally can't fault it.

Sometimes trying to get things like a statement (which means Lottie gets extra help in her mainstream school) you havce to fight a bit for that. They don't habd out these things on a plate but fighting for the odd thing makes it all the more sweeter when you get it. Like the hellish forms for Disability Living Allowance (DLA) - thye are awful but boy do you feel that you deserve that money when it's awareded to you/your family.

But we had physiotherapy, speech and language therapy and occupational therapy set up for Lottie, weekly sessions of, from 3 months old.
We also got Portage and a key worker visits you at home weekly and gives support and advice.
I really can't fault any of it and quite often didn't feel worthy.

Then there's the support of mumsnet, mums helping other mums fill out forms and swapping advice etc.

That's one of the nicest thing about having a child with special needs, meeting other SN's mums and everyone rallying round and being there for each other.

TC x

Oh and LeBe, in your position, I find that medical professionals always seem to give the worse case scenario, it's horrid. Your miudwiufe is unfortunatley not unique in that way.

Hi Thomcat,

Gald to hear you got lots of help and im sure you were worthy, its refreshing to hear that people did help, i dont doubt for a second the support from friends and family but it was the healthcare professionals that concerned me slightly as you often hear they arent very helpful.

Also i have had the awful experience of filling in the forms dor DLA when i suffered with illness a few years back so i totally know where you are coming from with that and your right you are deserving of the money afterwards its harder than working a 40 hour week!! Its nice to know thought that there are other mums and mums to be that can give advice to because last time i filled them in i had no help and ended up having to redo them about 4 times.

Im so pleased your posting lotsw lebe. So often I read posts like yours, pour my heart out and then spend days and weeks thinking of that person only to never hear again. It's so nice that your coming back, asking more questions etc.

I seriously didn't feel worthy, not ia ohhh I'm not worthy but in a why do we need all this, she's fine, kind of way. Seriously.

We have her heari9ng and eyesight checked twice a year, get her shoes made for her, have htydrotherapy, physio, speecj, OT. One to one teacher for her when she goes to big school in Sept.
How lucky are we!

Wanna see a picture of her?

I bumped an old pic for you in memeber profiles called TC - update.

only just seen this - LeBe, I also have a dd with DS, she is 5 and just gorgeous.
Like TC I find that most people are very friendly and supportive, in fact I've just come back from spending the morning with dd's teaching assistant who said she just couldn't go for the entire summer hols without seeing dd.
The DLA forms are indeed a low point - as are medical problems.
However, dd dd brings so much to our lives - she's like a little ray of sunshine (I know this sounds really kitsch but she just is, she's such a sweet-natured child). I always take her shopping with me because she likes it so much, she says hello to people, admires babies, doesn't whinge...
She's got a great sense of humour too, and whilst her speech is very delayed because she also has a hearing impairment which had been untreatable until recently, she certainly knows how to make herself understood and communicate even complex things.
Her latest school report heavily focused on how much dd has brought to the school, how she has improved the classroom atmosphere and has brought out the caring side even in the stroppy pre-teen year 6s.
When she did a race on sports day the entire school cheered her on and not many teachers were left with dry eyes.
(Anyway, I'll shut up now, I could go and write a book about her)

Thomcat - im pleased that your all replying to me i really am so grateful for all your help and advice. Sorry to be a pain but i dont know how to get the photo up could you tell me please?

Geekgrrl thanks for telling me your story too i do appreciate you all sharing your experiences with me. Ive actually just been to see my new midwife for the first time and she noticed about the test but for a change she didnt go on and give me the sympathetic look like they usually do which was a nice change here is hoping she will be ok.

go into topics, then go into member profiles and then nearish the top shoudl be something called TC - update.

Let me know if you still can't find it.

Xx