A/N testing for Down's Syndrome and Thyroid level

[suedonim]

I'm looking for info on someone's behalf about a/n testing, Down's Syndrome and thyroid levels. The pg woman concerned is 32 and expecting her second baby in April. She had a text book pg last time, apart from palpitations.

This time she has worse palpitations which she's been told are due to high levels of thyroid. She's also had an AFP test which has given her a 1 in 140-ish chance of the baby having Down's Syndrome. She seems to think there's a link between high thyroid levels in the mother and Down's Syndrome. I can't see that high thyroid would cause Down's but is it possible Down's causes high thyroid levels in the mother? Or can high thyroid cause the AFP test to give inaccurate results?

She doesn't want an amnio but is feeling rather confused and miserable atm so more info would be good. TIA.

this website might be of help

if she is a high risk pregnancy, she should be able to dicsus these fears with her consultant

an amnio will be conclusive, but not without risk..i can see why she doesnt want to go through it

sorry not to be more help x

I don't know of any connection- you're right that high levels of thyroid hormone couldn't possibly cause DS. Individuals with DS often have hypothyoidism, but I can't see how that would cause hyperthyroidism in the mother unless there's some kind of feedback. I don't think AFP would be affected either, though I don't know that for sure, just can't think of a possible mechanism. I would have said that the two things were completely unconnected to be honest.

Hope yuo're well by the way

Has she seen an endocrinologist?
I only know about hypo but if she's hyper she should be getting some kind of treatment

I don't think the Downs/thyroid would be connected

Thanks for the quick replies! Lulu, I wanted to look for that website but forgot what it was called so that's great.

Tamum, my gut feeling was that the thyroid and Down's were separate issues, they've just happened to crop up in the same pg.

We're all well, btw - have been meaning to email you but time has gone by so fast! Hope you're all fine.

was about her age when I had dd1 - who has down syndrome. In all the antenatal testing info I have read I have never come across anything that suggests a link between thyroid functioning in the mother and down syndrome in the baby.

if she looks at it purely from a ratio point of view - she has a higher chance of miscarriage from her amnio ( depending on the practioner) than she does of having a baby with down syndrome.

Is the AFP - just the bloods done around 16 weeks ( can't remember) as that is quite an unreliable indication on its own of the chance of having a baby with down syndrome.

Hi this is interesting as I also am high risk for Downs after Quad test. A simelar risk. I also have thyroid disorder but have it under control. I have had palpataions though! We decided not to have amnio for the same reasons, risk of miscarriage. Also the waiting and decision making that would follow. I have already had a TOP for lethal condition in the past and can't imagine going through that for something non lethal and that may not be so bad. I never had high risk results in any other pregnancy (inc the one with the baby we lost)

We paid for a private nuchal and Downs screening scan. My bloods were much higher risk that time but combined with the scan/nuchal it is now one in 600. I know I could still be that one and am abit nervous as to how we would cope; but being told a list of symptons/limitations when you are pregnant is totally different to being told when your baby is here and it is more real. Hopefully we would cope. I also worry if it is something else and not downs.

We have yet to go for the 20 wk scan so hope all is still OK.

Hope all is Ok with your friend.

Have finally got back to this thread - it wouldn't load yesterday for some reason.

I reckon the thyroid/Down's Syndrome thing is a red herring, from the evidence here. The hospital is monitoring her thyroid level but not taking action so presumably it's not too badly raised atm.

Eidsvold, afaik, the 1/140 result is on the AFP alone. I guess that is quite high for her age but their decision re amnio is based on the m/c risk and that she and dh will cope with whatever comes along. She has had a detailed scan to rule out spina bifida/anencephaly and nothing else untoward showed up. I know your little one had a heart problem related to DS so would I be correct in thinking that as the scan was clear the baby is unlikely to have heart problems even if he/she has DS?

Jellybean, I hope all goes well with you. Testing is such a double-edged sword. It wasn't available when I had my first two so you went through pg vaguely worried about what the future might bring but there were no decisions to be made and it was in the lap of the gods. Testing was rudimentary when I had no3 and tbh I think it passed over my head as just another blood test. But by the time I had dd2 pg felt like an obstacle course, a series of hurdles to get over.

sue there are other markers than can point to an increased chance of having a child with down syndrome. Dd1 had a serious but repairable heart defect that raised my chance to 1 in 5. Having said that - the fetal cardiologist basically said if she was born without down syndrome it would be very rare leading us to believe my chance was higher than that again iyswim.

WIth dd2 she had echogenic focii in her heart which is a 'soft' marker for ds and raises your chances. Dd1's heart defect was a hard marker - if you can see the difference.

I am pretty sure the info I read on the AFP was that it was only 40 odd per cent accurate or something like that - one of the reasons I avoided having it.

There are other types of heart defect associated with down syndrome - dd1's is just the most common. I guess if she had a very detailed scan then one would assume they could pick up a heart defect. If not - and their babe is born with down syndrome - most hospitals have a protocol of checking out various things before releasing babes with ds and a cardiac ultrasound ( echo) is one of the things they do.

hope that helps. Fwiw - dd1's heart defect was repaired and although she had a stormy post op period - she went on to be fab - just annual check ups now.... and you don't know unless you see the scar.

Thanks for the extra info, Eidsvold. It's great that your dd1 is doing so well. When is your No3 due?

Btw, I'm shocked the AFP is as low as 40% - it hardly seems worth having it done.....

no3 is due in Mar - third c-section coming up

it really is low and that surprised when I read that and then had a midwife really pushing for me to have it with dd2 - you know just in case - when I said how inaccurate it was she had no come back - very surprised that they would make such a big deal about it.

Bit like nuchal fold - bloods and nuchal translucency screening is far more effective as calculating your chances rather than the nuchal screening alone.

Ooh, it's not long until March! It's a v popular birthday month in this family. Two of my dc have March birthdays, also three of my nieces/great nieces were born on March 3rd and my bro is in March. My nephew's dw is expecting twins in March/April - they already have two children so will have four children under four years old, lol !!

Re the testing. I suppose hospitals think they are saving money if they just offer one test but from what you say, they must end up with lots of false positives which need further testing anyway.

28 weeks this friday and wishing the next 12 away - wondering how on earth I am going to cope with three - although not as bad as your relies - I will have 3 under 5. At the moment we have dd2 and dd1 going through the 'terrible twos' so it is really tough.... trying to work with dd1 especially.

Dh was reading about the US apparently they have been so successful with risk management of pregnancies where the baby is diagnosed in utero with ds that they are considering making nuchal translucency testing mandatory for all women and not just those over 35!! one wonders what they mean by risk management!!

Mar birthday will be good as most of ours are the second half of the year - including our extended family!!

hopefully I can get the consultant to agree with a date that dh and I have worked out is the best in terms of when he can get leave and we can sort out the dds and all of dd1's commitments. So end of Mar for us.

Risk management??? That's a v strange term to use. Does 'mandatory' mean women will have to have the test or that hospitals will have to offer it? I couldn't agree with the first.

Three under five will certainly keep you busy! But I'm sure there will be lots of fun alongside the icky bits and it will great as they get older. Is dd1 at school yet, when do they start in Australia? My rellies having four under four makes me chuckle because it took me 21yrs to have four children! I think my nephew and dw need to join the library... But I reckon they'll be fine as she is one of eight. Nephew is v busy extending into the attic, so they have somewhere to keep all their babies!

Hope you get a date that suits you, I had hassles over a date with dd1 and it was soooo stressful. But I got my own way by stamping my foot and crying.

BTW, August is sacrosanct for me. It's the only month of the year when there are no birthdays for me to remember so no one is allowed to have a baby in August!

from what we can gather from the articles - it appears that it will be mandatory. The effective risk management seems to be article speak for terminations of children with down syndrome by having this testing which seems to lead so many to have amnios and so on.

August - we have three - dd1, my dad and my mum.

I did not get started until late - am now 38 having no3. SUrprisingly without planning it we have 2 years and 4 months between both dd1 and dd2 and dd2 and no3!

Dd1 this year will attend a mainstream kindergarten for two full days and then a special needs kindy for two full days which leaves us one for two lots of therapy and swimming lessons!!

They have just changed the early years schooling and she should have attended pre school this year and then year 1 next but as she was born after June 30 2002 she will do what they now call prep 2008 and start year 1 2009. Probably a good thing - she will be seven the year she starts year 1 - she won't be alone though.

there was also some talk in the US of not insuring pre existing conditions by medical insurers - so in our case - dd1's heart defect would not have been covered by health insurance!!! Hate to think what that would have cost us for her surgery!!

HI all,

Eidsvold, I also will be having my 3rd section. Not that looking forward to it as I had PPH last time in recovery. Probably more to do with it being twins though and emergency deivery. never had an elective before. I also had 3 under 5 and DD age 5 when twins were born. It was not so bad once got used to school/nursery run! many a time the boys had their jammies on under their pram suit! I found the toddler age the hardest with the twins.

I also am uneasy about mandatory testing. Juts because society can be hard for people/families with a disability (as it can be also for those without disability) doesn't mean eliminating them is the answer.My kids are very accepting of those with disabilities as there are kids in school now with Downs/autism etc. In my day there were none so we weren't used to mixing. It would be a real shame to go back to that. I also don't get why screening assumes it is 'OK' to loose several fetus's through invasive testing just to find one with Downs. I read to make it cost effective they need most people to have amnio, and most confirmed cases to be terminated. I dread my scan as they said (screening midwife) they would meet me to talk after-prob to push amnio.

It would be mandatory to have the nuchal test? How long before it would also be mandatory to have a termination? That stinks of eugenics, and how much longer before they do away with those already here who are deemed not to come up to scratch? That's terrible. I had an amnio with dd2 but it was my choice, not some govt directive.

Re children with disabilities being more visible today. When I was a child we knew plenty of people with Down's, more than I know today - maybe that's to do with the prevalance of DS then? My bro's classmate had a much older bro with DS, the owners of the local Italian icecream parlour had dd with DS. She was called Giovanni and used to wait in her garden for me on my way home from school, to greet me with a huge smile. She had lots of older siblings and was loved to pieces. Another friend of my mum had a dd with DS. She was very difficult to handle and there was no help in those days. She used to hit her mother and destroy things. But she learnt to get about by bus and handle money, unusual skills for DS people in the 60's. Mum also had another friend whose ds wasn't diagnosed with DS until he was about 5yo.

Afaik, few people with DS went to school in those days. It's great that your dd is getting lots of opportunities, Eidsvold. Does she go to two different kindies because they offer different things?

Eidsvold, thought I'd add that I've just had a humungous row with ds1 about mandatory testing!! I think I won as he's now being v nice to me. Do you know who it is who wants to bring in such testing, ie is it the govt, individual states or the insurance companies?

sue - the year dd1 was born - 2002 - more babies with down syndrome were terminated than were born - very sad. We had to fill out documentation for the government to monitor those who had been born and were okay and those that had been stillborn or terminated.

I am not sure who was insitgating the mandatory testing - dh read me snippets from the article but I said I would probably get too angry to read the whole article.

Economics has such a huge role to play surprisingly. There is a fellow inatal testing and termination. His big argument - cheaper to test and terminate than to 'allow' children with conditions such as cystic fibrosis to be born and cared for. A few years ago he was holding a conference in the UK about antenatal testing etc and some adults with down syndrome went along to attend and were refused entry!!!

See if I can find the link for you.

some info here

she does not have to attend mainstream kindy but we felt it was important for her to be part of the community in which we live and the one she attends has a fab record of inclusion - teachers are amazing as well as the aides.

The sn kindy is actually part of a special education development unit which is part of the state government education system and provides support for kids with sn in school and provide early childhood education for children from birth to school age. They start with a playgroup once a week where parents attend as well and then at 3 they start the drop and go program - 2 mornings a week and then onto the preschool program which is two full days a week.

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