Down Syndrome

[Betheney]

Hi

I wasn't sure where to post this. I hope no one minds it being here. I couldnt really find a relevant section in pregnancy threads because although they had "gestational complications" I wasn't sure this is really a gestational complication.

Anyway I had my 12week NT scan and we've comeback with a 1 in 78 chance of DS, based on my age (26 yrs) and because our nuchal translucency was a bit thick. I've decided against further testing for a number of reasons 1. The risk (although minimal) 2. I honestly don't feel like I need to know 3. It doesn't change any decisions about terminations.

SO with all that in mind what I have decided is to just wait until the baby is born. I would however like to prepare myself for life with a down syndrome baby just in case we end up having one. The problem is I can't find any information. I tried googling it and everything talks about the shock and sadness and grief I must be feeling at discovering the baby has down syndrome and how find support groups asap. I find a lot of the information really negative and call me crazy but I honestly don't find the prospect of having a DS baby that negative....

None of it actually gives any information on how to care for a newborn with down syndrome. A friend has mentioned they can have poor muscle tone and struggle to breastfeed but this is basically all the information I have. I just want to know how it could differ from my other experiences with a newborn. Will I expect a lot of physio appointments from day 1? I understand the risk of further heart defects and health complications so need to prepare for that. But how can I prepare myself? I don't need to go out and buy books or anything because for now it's just a chance but I would like some knowledge to arm myself with.

can anyone help?

 

[sequeena]

I can't help but can offer lots of hugs xxx

 

[kit10grl]

Have a look at this facebook page. It is the page my friend set up for her twin boys to help raise awareness. It gives great insight into her daily life with the boys. Elaine also loves to help so feel free to pm her with questions and she will be able to point you to good reources if she cant answer your questions herself.

https://www.facebook.com/ollieandcameron?fref=ts

 

[Betheney]

Have a look at this facebook page. It is the page my friend set up for her twin boys to help raise awareness. It gives great insight into her daily life with the boys. Elaine also loves to help so feel free to pm her with questions and she will be able to point you to good reources if she cant answer your questions herself.

https://www.facebook.com/ollieandcameron?fref=ts

that page was a huge help thanks! I trawled over months and months of stuff and there was a link about facts about DS people it was very informative and I found it very helpful thank you.

 

[kit10grl]

Have a look at this facebook page. It is the page my friend set up for her twin boys to help raise awareness. It gives great insight into her daily life with the boys. Elaine also loves to help so feel free to pm her with questions and she will be able to point you to good reources if she cant answer your questions herself.

https://www.facebook.com/ollieandcameron?fref=ts

that page was a huge help thanks! I trawled over months and months of stuff and there was a link about facts about DS people it was very informative and I found it very helpful thank you.

Awwfantastic I am glad I was able to help. X

 

[annanouska]

How cute are those boys!!!

 

[Betheney]

Right aren't they adorable!

I went shopping today and saw a man with down syndrome buying some groceries and then when I walked around the corner I saw another down syndrome man packing shelves and working it made me feel so good seeing they can lead perfectly normal lives.

 

[SparklyMonkey]

Hi,

I don't have experience but am in the same position. I had the combined screening (NT and bloods) and my risk came back as 1 in 96. I was quite shocked, I'm a bit older than you (30) but really didn't expect it as I thought it only happened to "older" mums which I know now was really naive. I also didn't have the screening at all with my first. For me it was my bloods and not the NT which increased my risk, baby's NT was slightly thicker but still under 3mm which is where they tend to say it's a higher risk.

We decided to wait until the 20 week anomoly scan, if that shows other markers for downs or other chromosome abnormalities I'm going to get the amnio done so we know exactly what we're dealing with. We wouldn't terminate but I do want to know as much as possible ahead of time.

I do know from knowing others who have children with downs that they can lead pretty normal lives with some support depending on the severity of their disability. A lot of adults with downs are able to work and children can attend mainstream school (in the UK at least, I assume it's the same elsewhere)

I do hope that our baby doesn't have any issues but if he or she does we'll be doing our best for them.

Good luck x

 

[Betheney]

Sparkly monkey. Originally I held a similar plan but apparently a lot of places won't do an amnio past 20 weeks. I don't know exactly as this id just off random websites. I've heard people say you can get them at any gestation but then I've read amnio (15-20weeks)

I wanted to save any decision making for after our 20week scan but my doctor said it really is now or never with further testing so I opted for never.

I love my GP but I want to talk to the genetics counselor about the facts on when amnios are offered (even though I still don't think I'd get one) but I'd also like to know the various blood tests that can help change the risk. I understand they aren't as foolproof as the amnio but I would still like to know if our 1:78 could change to 1:25 or 1:200 with a blood test.

it did shock me because of my age. I can't help but think that my age would of helped rather than hindered my risk. So I'd hate to see what it was when age wasn't factored in.

I have read that there are more DS babies to women under 40 than over simply because we have more babies than them.

I thought my 1:78 odds were really good too until I read quite a few stories of mothers to Ds babies. I thought their odds must be 1:5 and 1:2 and maybe 1:20 but all these mums really were told from 1:50 up to 1:150. Since I read that I've been trying to prepare a lot more.

my risk is off the scan only. I didn't get the bloods done. My NT was only 2.81mm but it all correlates to crown to rump measurements and gestation too I was only 11 weeks at the scan. So I think it's hard to just have a black and white "these measurements are good and these are bad" type of information.

When are you due? I'm due March 2nd. It feels great to be able to tall to someone going through the same thing. The only other women seem to get high risk and opt for an amnio asap. There's no one in this wait and see game with me.

 

[kit10grl]

They 'prefer' not to do amnio after the later scan as obviously if they do the amnio and the results show a genetic condition like Downs then the mother can request termination even after 24 weeks. As babies can survive early labour from this point a lot of people dislike the idea of terminating after this point.

That said they cant refuse to do the amnio even after a certain point. I had mine done at 33 weeks.

 

[Betheney]

They 'prefer' not to do amnio after the later scan as obviously if they do the amnio and the results show a genetic condition like Downs then the mother can request termination even after 24 weeks. As babies can survive early labour from this point a lot of people dislike the idea of terminating after this point.

That said they cant refuse to do the amnio even after a certain point. I had mine done at 33 weeks.

I don't think that would be the reason here, termination are legal in Victoria Australia up to full term and they really don't have a problem doing them at all or at any time. So i don't think they'd discourage amnios after 20 weeks to discourage terminations.

I wouldn't terminate anyway, i mean if i would i'd just get the amnio now.

I don't think i'll get it after the next scan anyway either though. Just was wondering what my options are.

 

[kmumtobe]

Hi, Betheney you linked me here from a thread in 2nd tri. Hope you dont mind me joining you. At 12w+6 our measurement was 3.3-3.5, here 3.5+ is high risk. I'm 27, bloods were completely normal so going on that my risk is 1:45. It did seem odd but I can see why yours would be closer to mine now if you were only 11 weeks. We were sent for two specialist heart scans as told if could be a heart defect, these showed up completely normal as did the 20 week scan. I said all along if something else showed anywhere then we'd do the amnio but otherwise I couldn't justify the risk. Everything that comes back clear gives me about a days relief then I'm back to panicking and thinking something will be wrong. For some reason I've never really felt she may have downs I've always worried it will be one of the worse conditions like edwards. Perhaps the pessimist in me! I've started buying now times getting on but I can't really bond with her with the fear of not taking her home at the end of it so I do worry for the next 4 months, I've been told we could do the amnio at any point so may do so at a later time, I don't even know what would we considered 'safe'. How far gone are you now? Are you waiting for your 20 week scan still? I sure envy your 'I really don't feel I need to know'!

 

[Betheney]

Kmum i'm so sorry you're having trouble bonding with baby because you're worried you might lose her. The genetics counselor told me anything above 2.8 was high risk so being 2.81 i'm right on the cusp. I wonder is it's 2.8 for 11 weeks and then 3.5 for 12 weeks or so forth.

I'm 15 weeks along now, i'll get around to a ticker eventually. I always thought i'd want to know but now we've been dealt this hand i just don't need to. I think it's because i've thoroughly accepted what life with a down syndrome child would be like. Maybe if i was spending each day clinging to the hope the baby wont be disabled and having a disabled child would be a really upsetting and horrible thing to me, i probably would get it. But i think because i've accepted having a down syndrome baby the fear of it all isn't really there and so finding out just isn't something i'm desperate for.

Of course your greatest fear is losing the baby i'm sorry you're having trouble bonding with your little girl. I'm sure if your worst case scenario happens you would of wished you enjoyed the short time you had with her even if she was just in your tummy for that time.

I do have a fear over more serious disorders like edwards, i'm unconcerned about DS but the others i would not accept as easily or deal with as graciously.

I read somewhere that amnios aren't usually offered past 20 weeks because the risk of the waters breaking is greater, i can't however find this information anywhere and can't recall if i read it off a medical/informative site or just on a random thread. My 20 week scan is actually booked around 21 weeks. Maybe i'd consider one closer to term then so if i went into labour baby would be okay. But i wouldn't do it if they were only concerned about DS, that would only be if they were also concerned about edwards or spina bifida, or something else.

 

[SparklyMonkey]

We have the same due date the specialist midwife I saw (I'm in the UK) said I can have an amnio at any point. She did say they'd recommend waiting until 34 weeks if it's after the 20 week scan and only to know one way or another (as in if I wouldn't terminate anyway) as at that point waters breaking and early labour wouldn't be an issue. The NT measurement is definitely relative to crown to rump and gestation as it gets thicker anyway so maybe 2.8 at 11 weeks is considered similar to 3 at 12 weeks (I was told anything under 3 is "normal")

I am scared and I do know that 1 in 96 is still definitely a risk but I'm trying to stay calm about it and hoping I'll be one of the 95 non-downs instead of the one with downs in that number.

 

[kmumtobe]

Thankyou for your kind words Betheney, and sorry for hijacking your thread as i couldnt offer any further insight like you wanted other than what ive been googling too. I sound similiar to you, having a child with downs doesnt scare me too much or afterall i wouldnt be doing things this way. Do you not have blood tests aswell as the nuchal measurement? did i read that? have you not had any other reassurance but the 20 week scan coming up? Sparklymonkey thankyou for the info about the 34 weeks, i had maybe 30 weeks in my mind but i wasnt sure. I hope the next 5 weeks fly by for you, i felt like mine would never come but it did end up going quick, i dont know where this pregnancy is going.

 

[Betheney]

Sparkly monkey - my due date is actually 2nd of March. I had to put 1st of March into the website because it's obviously not an Aussie website and it kept saying I was a day previous. Yeah I think depending on circumstances I wouldn't see a problem getting at amnio at 34weeks. Like I said before I wouldn't want to risk losing a non-DS baby or a DS baby but at 34 weeks ot later they would just be slightly premature. Remi was premature so I know that world well and am comfortable with it. Lol

Kmum - don't think you hijacked my thread!! Originally I did want just some pointers on where to start with the whole DS thing but now I'm glad it's turned into more of a sharing/support group for the few of us. It does feel good to talk to others in this situation.

There is a blood test that is combined with the ultrasound but I declined it this time. My kids both had odds aftee the scan of like 1 in 2,000 which was then pushed back to 1 in 12000 after the blood test was included. I told my husband I dont need to have a 1 in 12000 im content woth just 1 in 2000 so I'll decline yhe blood test and dave the $100. When I told my doctor he said "the problem is if you have a high NT rrading it's reassuring to have the blood test to fall back on" and I was like "oh I'm sure it's fine" lol famous last words. I know there are further blood tests but I don't know what they're called or how much they are or when they're available. My pregnancy care is in a bit of a weird state at the moment. My GP ordered my ultrasound and a genetics counselor called me to tell me the DS risk. But my GP still hasn't gotten my results himself so I don't actually know my edwards risk or any other risk or even any other results from the ultrasound. My pregnancy care is also being transferred to a high risk unit at the hospital because I have a history of severe preeclampsia. So when I go to my GP tomorrow and they STILL dont have my results I'm going to have to ask for them to be sent to the high risk clinic where I officially transfer to on Thursday. So i could also call the genetics counsellor but am trying to find out if I can at least get my GP to go over it with me first because I feel so much more comfortable with him.

 

[SparklyMonkey]

Goodness that does sound complicated. Apparently because of my hormone levels my risk of pre-eclampsia is increased which was another shock as I was very well with my daughter aside from PGP. Fortunately they've said even though that risk is higher unless I show symptoms I'm still classed as low risk for the birth so should be able to go ahead with the natural midwife led route I'm hoping for. I think I'd feel better if I actually had a date for my 20 week scan but I don't thanks to being hospitalised with hyperemises on the day of my 12 week scan meaning I couldn't book the 20 week one. I'm hoping to sort that out with my midwife when I see her on Monday.

 

[Betheney]

Goodness that does sound complicated. Apparently because of my hormone levels my risk of pre-eclampsia is increased which was another shock as I was very well with my daughter aside from PGP. Fortunately they've said even though that risk is higher unless I show symptoms I'm still classed as low risk for the birth so should be able to go ahead with the natural midwife led route I'm hoping for. I think I'd feel better if I actually had a date for my 20 week scan but I don't thanks to being hospitalised with hyperemises on the day of my 12 week scan meaning I couldn't book the 20 week one. I'm hoping to sort that out with my midwife when I see her on Monday.

There was a study done about the statistical chance of getting PE. If you didn't have it in your first pregnancy and you have tye same father for the second it's incredibly uncommon you could get it for the first time in a second pregnancy. The chances were around 1%. I had PE in my second and not my first and when i told every doctor its the same father they thought that was super crazy it had happened like that. So fingers crossed even if your chances are inflated they're still low

 

[Betheney]

So i had my GP appt today and he did have the results with him. Except the results said there was NO DS risk provided because i declined it?! i said i didn't decline the DS risk i just declined the blood test but i was told i could still have a DS risk without the blood test it would just be less accurate. I told him why would a genetics counselor call me with a 1:78 risk if there was no risk recorded somewhere? so he gave her a call and both her and him agreed that the fact i'm 27 and that 2.8 isn't even that high that i can't possibly be high risk and the lack of a blood test has just complicated things a bit. He said he really doesn't believe i'm high risk and neither does the genetics counselor but of course given all that he still can't guarantee i won't have a DS baby because i'm risk is more of an unknown with no bloods done.

He told me there's a new blood test called a NIPT test which tests the babies blood from my blood so it's completely non-invasive and would say whether the baby did or did not have DS however it's a $700 test! lol so i'll pass.

So i'm still in a bit of a grey area i feel. My ultrasound results that i'm taking to my high risk appt are going to say i have no recorded DS screening risk. I guess i could verbally tell them about the genetics counselors phone call. But i'm still unsure how to handle the situation, just go happily with the fact both my GP and genetics counselor said i can't be high risk because i'm too young and 2.8 isn't even that high? or what do i do?

 

[SparklyMonkey]

Hmm. I had the bloods done but I'm sure they can calculate a risk based on NT as that's how it was worked out before they did the blood tests anyway. I think you'll have to see what things look like at your next scan, usually there are soft markers for DS at 20 weeks even if nothing is picked up at 12, without those the risk does drop again.