tests offered to older mums

[mckenzie]

When pregnant with our first child my husband and I declined all of the tests that we were offered but now we have to take DS1 into consideration and we are thinking about having some tests with this pregnancy.
I have my first midwife appointment on friday but i'd really like to find out from you guys what the choices are as from my first telephone conversation with the midwife, I dont think that she and I are going to get along. (I could be, and indeed hope that I am wrong about that).

We thought we'd decided on the nuchal fold follwed by CVS if necessary but I hear today from a friend who works in the medical profession along with her husband, that the amnio is better that the CVS and indeed her consultant who she highly respects would not do CVS.
Then I read in a girly magazine this afternoon really positive things about downs children and i think that i dont want to have any tests anyway. But is that fair on DS1?

I cant be the first person to be getting so confused about all this can I? Can someone offer any advice to help me get my head around this please?

Hi McK,
eek - worrying decisions aren't they?

I'm 36 and I think a bit different from you in that I was keen for tests as I definitely would have terminated.

As a scientists I declined all 'screening' tests and demanded diagnostic tests instead. In other words, I didn't want the nuchal fold or the triple blood screen thingy, as all they can give you (as well as loads of anxiety!!!) is a statistical chance of something being wrong.

I'm afraid I know nothing about CVS, other than it can be carried out much earlier than an amnio. I THINK there potentially is a risk with the needle hitting the placenta so that sometimes the sex chromosomes can end up 'appearing' a bit funny (eg XO instead of XX or XY).

I had an amnio at 17wks (bit late as I hadn't been dated) and it took 2.5 wks for the results to come back. During that time my sprog started to kick for Scotland and I knew I was going to have a very tough decision to make if the amnio came back positive for Downs or spina bifida. It was the kicking that made me wonder if I would have an amnio if I got pregnant again.

As a scientist, I assumed that a genetic test would give me all the answers, but I forgot to consider what we call 'penetrance'. i.e. the genetic markers may be there, but they tell you nothing about how severe the disease will be. I think this is especially true for Downs and Edwards.

If you don't think you will terminate - don't have the tests. I'll say it again - they can tell you if your baby has a genetic defect, but they can't tell you how severe his illness will be.

Best of luck - there's loads of mums on here who have been through the same tough decisions you're making - you'll get tons of support!

H xx

thanks Highlander for the swift response and the extra information.
Do you by any chance know why the amnio results take so long to come through?

the amnio results take so long because they collect the cells from the 20mls of amniotic fluid sampled from your uterus. That's not a lot of cells so they have to grow them in the lab for 10 days or so. Then they can extract the DNA and do chromosome analysis - they detect Down's this way and they can also accurately sex your baby. If you need extra testing (family history of disease), then the DNA is processed further for more fancy analysis.

Some labs do the Down's test by a technique called 'FISH' - it's very fast, can be down on a tiny amount of cells and the results are generally available in 3-4 days. If Down's is all you're worried about, it may be worthing enquiring about this.

Best of luck

Hi McKenzie

I had the exact same anxieties as you and had an amnio with ds. I got results in 2 1/2 days re Downs by phone, and an all clear letter in 2 weeks. This was in Glasgow and think that's pretty standard time wise.

Good luck with you decision.

I work in the lab where they analyse the amniotic fluid/chorionic villus (CVS) samples.
Just wanted to correct something Highlander said.

' I THINK there potentially is a risk with the needle hitting the placenta so that sometimes the sex chromosomes can end up 'appearing' a bit funny (eg XO instead of XX or XY).' This is incorrect.
CVS can be carried out earlier than an amnio but it does have a slightly higher risk of miscarriage than an amnio and is often only available from specialist fetal medicine units(which may be why your friend's doctor doesn't do them). The chorionic villi are part of the placenta so the needle will disrupt the placenta a little..there were some reports a while ago that if the CVS was done too early in pregnancy then the placental disruption may lead to limb defects in the baby..also since you are testing the placenta rather than cells from the baby there is a tiny risk of the result being misleading (in some rare cases the placenta may have a chromosome abnormality but the baby is completely normal - (in most cases it is obvious to the trained health staff that the result is misleading so an amnio or fetal blood can be used to confirm the result but this means that there is a second test so an increased risk of miscarriage.))
The rest of Highlander's posts are fabulous

Some labs do something called amnioPCR rather than FISH - same sort of idea in that they can give you a result within 2-3 days on whether the baby has Down's...but this (and the FISH) test are generally followed up by the full chromosome analysis (so you get a second report a couple of weeks later) to try to exclude some of the rarer chromosome abnormalities.

From my experience it is a very difficult decision to make when you have to consider the impact on your first child. I wouldn't have any invasive testing (except scans) for my first pg but if I had an increased screening test risk on my second pg I don't know what I would have done. Maybe you could ask if anyone has grown up with a Down's syndrome sibling to hear their point of view?
As Highlander said, even a definite diagnosis of trisomy 21/Down's syndrome can't really tell you how affected your child will be.
Hope this hasn't confused you more..oh, and congratulations on your pregnancy

I am 38 and 22 wks pg. I opted for a nuhcal scan assuming the great results would put my mind at ease. Unfortunately I didnt get great results. After the scan my chances of the baby having chromosonal abnormalities increased from 1:120 to 1:44. I have already miscarried twice @ 12 wks and couldnt bear to risk another mc so I declined a cvs or amnio. Then I had 7 weeks of incredible stress until a further scan (the fetal anomoly scan) could provide more answers. During this 7 wks I convinced myself the baby had an abnormality so serious it would never survive, I spent hours on the internet and became quite obsessed. It was awful and time and time again I wished I had never had the nuchal scan. Anyway, at 19 wks, the hospital did a very detailed scan and picked up no problems at all. Of course my baby could still have something wrong but the chances of it being a fatal condition are very tiny. Now I am determined to enjoy this pregnancy.

If I ever do get pg again I will decline all screening tests, the huge amount of false positives creates enormous stress and worry.

Just out of interest what do you mean by taking into account ds1? (not asking aggressively- just out of interest...) What sort of effects on him are you worried about?

I am pregnant with 3rd age 34. Ds1 is disabled (severely autistic) DS2 basically fine (speech disorder but I don't count that). I opted for blood tests (would have gone for nuchal but that would have involved a 4 hour round trip and having to pay). Mainly to pick up on anancephaly as obviusly it is probably less traumatic if a fatal condition is picked up earlier.

I'm not sure these days that conditons such as Down's necessarily have a huge negative effect on siblings. Obviously it depends how affected the particular child is- but the situation has improved a lot in the last 20-30 years. There's a thread about the negative (and positive) effects of having an autistic sibling in behav and development (but then you can't pick up autism antenatally anyway). It is worth bearing in mind that many conditions that would have a more negative effect on a sibling than Down's (I'm thinking of medical conditions that require long stays in hospital- nightmare for any sibling) cannot be picked up.

That's probably thrown a spanner in the works- just something that I thought about before deciding on what my response would be to a "bad" screen (still waiting for results-I won't be having invasive testing). In my case I didn't just think about the effect on the siblings (although I did think about how hard it would be for ds1 in particular who already needs a lot of time), but also the effect on me. Could I cope with another disabled child? Well yes as if it happens you just get on with it. And for me a late termination would probably screw me up for the rest of my life. In the end I decided there were just too many unknowns (as in how affected a child would be and also whether a "perfect" child actually is -by the age of 3 it was clear that my "perfect" ds1 was actually severely disabled) to make any sensible decision.

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I am younger, but get offered most of the tests here. i am refusing all of them, the only test i am having is the anti-bodies screening every few weeks as am rh neg.
This baby is much wanted, and if its disabled then so be it. dont mean to sound like a mad woman who doesnt care if my child is normal etc, but after so many other health issues in my dh live and knowing what the future may hold, we have decided on one more child as we dont knw whats around the corner.

Mind you, if you asked me 6yrs ago, when i was a teenager i probably would've given a totally different respnse to testing, actually with dd1 i had most blood tests done. but after mieows kids have cp, my friends dd has retts, mine have numerous allergies and other health problems, plus my dh heart condition which was dx when pregnant with dd2, then i think we'd be able to handle the dx of DS with relative ease. I have learnt that nobody has perfect health, and everyone is different, but everyone contributes to life in any way they can.

There are a lot of good previous threads on here, McKenzie, about these issues. If you can trawl thru the archives, they will give you food for thought. A lot of valid, cogent arguments on all sides, and by no means am I saying that my own perspective is the "right" or "best" one.

I have 2 cousins (sisters) I'm close to -- I'll call them Terry and Pat. Pat has 3 adult/nearly adult children: the eldest has Attention Deficit Disorder, the middle has Down's Syndrome, the 3rd is supposedly "normal", but he has acted out so much as an adolescent he's on behavioral drugs, failing school... the feeling from his aunt (Terry) is that it's attention grabbing behavior given his older siblings' problems.

When pregnant herself Terry chose CVS because she decided that she would (probably) choose to terminate a Down's foetus... and looking at what Pat has had to do/still does for her Down's son, now 20yo, I think I would do the same.

However, if you ask Pat, she'd say her son who happens to have Downs is the light of her life, and moreover, that her ADD child has been far harder to raise and deal with.

Terry also says that Pat could be a much much better parent, that poor parenting is where the youngest son's problems come form. But I look at Pat and don't think I'm a better parent than her... so would I cope better? Would I be able to parent so well that my other children would not be adversely affected by having a Down's sibling? Doubt it.

ON the other hand having disabled siblings can have very positive effects on siblings. Our excellent SALT (who has become a friend) has a severely disabled sibling- she's talked quite a lot about her to me recently- but never in negative terms. I think her experience is partly what had made her so good at what she does.

DS2 is onyl 2 and a half- but he adores ds1. (DS1 isn't so keen on him has to be said). I've met plenty of so called normal siblings who hate each others guts and blame each other for ruining their lives.

Which isn't to say that you shouldn't have tests/terminatioins whatever- just that disability doesn't always have to equal doom and gloom.

you put it so much better than me, jimjams. I have seen what benefit children have on others, whether disabled or not.

thank you all so much for sharing your thoughts and experiences. I am feeling more and more that there is no point in having the tests as they are so inconclusive and I don't think that I would be able to terminate anyway so what's the point?

Jimjams, I think I mean that say for example, the new baby had a heart problem that meant we were making frequesnt and lengthy visits to hospital, DS1 would be affected by that as we would presumably be leaving him with grandparents etc while we made the visits.
I think that's my main concern re DS1, just the attention/time aspect of a poorly/handicapped child.
I do know a delightful young lady who is 7 who has mild downs syndrone and I would be more than happy to have her as my daughter so perhaps I will concentrate on that thought, be positive and say stuff the tests!

my dh has heart problem. i go with him to hospital appts (but not blood tests as he can deal with those himself). my dd's are now used to spending timw with the grandparents, and in a way its a break for them as much as for us, even if we are just sitting in a waiting room. its help build up the relationship between grnadparents and my dd's.

lol mckenzie. I think hospital visits can be hard. Of course the problem with antenatal tests is that the worst case scenario gven to you with the test result doesn't always come to pass - and then other major problems are missed. Also it depends- the one child I know with very severe heart problems was not picked up (in fact she was born at home) if each hospital stay is short then I don't think it has much effect (my cousin's son had a bad cleft palate- he's had lots of ops- but all short stay- doesn't seem to have affected either of his siblings).

I do think there are so many unknows. My son was "perfect" in the scans, passed all his checks (including 2 year) yet now at 5 is classed as severely disabled. Then I had a friend at shcool with spina bifida - and the only effect was a slight limp. Obviously a mild case but I know the severity is hard to predict from tests. My friend has just given birth to twins. One had a stroke- nothing picked up again until after birth and they still don't know what the effect will be (hopefully mild). And then I always remember my friend whose sister was walking down the street aged 19 when a woman driving past was blinded by the sun, knocked her sister over leaving her brain damaged. And at that stage I remember that there are never any guarantees. That was kind of the thought process I've just been through when deciding whether to go for invasive testing. For me a late termination would be so traumatic for a condition I knew was compatible with life that I decided the risks of tests really did outweigh the benefits of knowing.

BTW does anyone know how long AFP tests take to come back. Mine was done 10 days ago- haven't heard anything can I assume its OK?

Sorry - Just straying from your original thread, altho I will comment in a min, ggglimpopo you havent done the link thingy correct

\linkwebsite etc\name it i.e. talk {} you missed the \ & name & end bracket}

As to the actual thread, I am 35 and never once thought about the other tests, I had my triple blood done and the results came back 1 in 4200, which is a damn site higher than DS1, he was 1 in 2000,(and he is fine) the only other test the hospital and consultant may have done was diabetis, but after discussion he decided I wasnt at risk.

But reading this does make you think.

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Hi mckenzie

I missed this until now. How's it going, how are you feeling now?

I have a daughter, 2 years 7 months, bright as a button, charming, beautiful, chatty, cheeky, really funny, incredibly social able and loving. She also has Down's syndrome. I wouldn't change a single thing about her, thank God for her and feel honoured to be her mother. Having the opportunity to raise her, and raise a child with special needs has been wonderful so far. I appreciate the smallest things, celebrate the smallest accomplishments, am grateful for so much. It can be a positive and rewarding experience. I?ve not get come across any other mothers whose children are Down's syndrome that disagree with that.

It's been said many many times before but there are no guarantees in life, esp as far as children are concerned, that's the only guarantee! My mum didn't know my sister would end up with such bad OCD she can barely come out of her bedroom. My step-father didn't know his baby would end up self harming and stealing and taking hard drugs.
I pretty much know what the future holds for my little angel and have no fears, bring it on. At the end of the day if she doesn't end up living independently, which she probably will tbh, but if she doesn't then how wonderful for me in a selfish way. A loving daughter to cuddle up with on the sofa with every night, how can that ever be a bad thing aye?!!

With regard to the effect on other siblings, I've never come across anyone who said it was anything other than a positive thing, well all except for Zebra. Blimey it's only Down's syndrome!!! I personally have 2 friends whose siblings have DS and they are happy well adjusted adults with no problems whatsoever and are very close and proud of their siblings. I also think it probably has helped shape them into the understanding, compassionate lovely people they are, close to their families.

I can't imagine my life without Lottie and wouldn't want her any other way and I can't wait to have more children, god willing.

I just wanted to shed a positive light on DS and hopefully help in setting your mind at ease if only ever so slightly.

If you'd like to talk I'd be more than happy to, just contact me through mumsnet.

I wish you a healthy and happy pregnancy and hope a very healthy and happy son or daughter.

I know exactly what you are going through and the responses on this thread will hopefully help ease your concern.

Just a few things to add to the mix.

I had DS at 36 and had the neuchal fold test, and they also looked for a nosebone (something fairly new I'm led to believe). My odds were very good, but had they not been I still do not think I would have terminated. DH and I had already decided to take any results and do as much research as possible before making any decision.

Just because you have tests does not mean you are looking to terminate. It can also be a way of preparing yourself and your family for any special treatment/ needs your baby may have.
Sometimes Downs syndrome babies can have severe physical disabilities and IMHO it makes sense to find out as much as you can so at least you are prepared for the outcome, whatever it may be, and know how to do the best for your new little bundle of joy!!

BR

but what if we have the tests, they tell are the risks are high, we decide not to terminate but use the next months to prepare and then everything is okay. Or worse still, the tests say everything is fine so we relax totally and then the baby is born with a problem?

I gave my husband a printout of all these postings this morning to read at some stage during the day and we are going to discuss again this evening. I think maybe i'm getting too worked up about it all though and I'm just going to decide now...
no tests.
This little bugger is already making me feel so sick and tired and yukky that he/she cant possibly cause any more trouble after birth.

thanks again everyone, I really do appreciate you all taking the time to post.

ps. when DS was asked yesterday if he would like a brother or sister he said
"I dont mind as long as long as it loves me".

Nothing is guaranteed, McKenzie. I think one of my fears is that I wouldn't bond to her/him if my newborn was less than perfect, but probably it's groundless because it's a very weird mother who doesn't bond, regardless of her offspring's imperfections. Maybe I'd bond all the more, knowing how much more a disabled child needed me. And even a "normal" baby will take up an awful lot of attention you might otherwise be giving your first-born.

FWIW, I was very clear in my first 2 pregnancies that Downs was one of the conditions I certainly would not terminate for... esp. with my 2nd baby, because I badly wanted a 2nd child and I was convinced I would never be willing to subject myself to such horrible morning sickness ever again! So I do see all sides of the issues you're grappling with.

mckenzie - I found out I was preganant when I was 4 months gone so the only tests I had were the normal blood tests carried out. I was put in low risk group. Had scans from the day I found out I was pregnant. Had no idea that Charlotte would have DS and am happy that it all happened the way it did for me. I REALLY enjoyed every minute of my preganncy, not that i wouldn't had I known, I'm just saying, I was relaxed and happy and looking forward to the birth and being a mum. Then lottie was born and there was a short period of grieving for the child I thought I was having and a period of re-adjustment and after that, a day or 2, it's been perfectly normal and happy and never a problem.
Having the tests and preparing yourself is an option but really what is there to prepare yourself for? Babies with DS are just the same as any other baby. Yes some are born with a heart problem but a non DS child could be born with that, you'll just deal with it as you have to, let's hope you don't have to.
Apart from that there's no difference.
A child born with DS will be a bit slower to learn, but a non DS child could have learning difficulties.
A child born with DS may be slower to walk, but then again they might not.
A child with DS may not turn out to be a doctor but whatever they do do you know they really worked hard at and got there despite the odds so will be so proud of them. A child with DS will walk, talk, run, ride a bike, swim, go to mainstream school, talk, sing, and love you unconditionally, as you will them.
DS is only one thing that you can detect in the womb, what about every thing else? Are you going to worry about all those things too? If for some reason you feel the chances of your baby having DS are high then do a little bit of gentle research but not too much.
Would you like me to send you some links or some info or can I do anything else to help in any way?

I hope you don't think I'm being pushy or anything horrid. Whatever decision you and your husband make I would support it. i just want to do by bit to reassure you if that's what you were after.

thanks Thomcat. To tell the truth, I'm not even sure why DS has been the main thing that i've been talking about - I guess just because it's a condition that I can put a name to and recognise. It is really any type of condition/illness that concerns me. But, and I do feel stronger about this every hour which is mainly thanks to all you guys, unless DH comes home tonight and throws a huge spanner in the works, I'm going to opt for no tests.
I'm getting upset with myself now and the stress of deciding is probably what is making me sick rather than the tiny little thing making itself comfortable in my womb.
So, now I need to hope that nobody posts on this thread anymore otherwise I shall keep looking at what others write and keep thinking!

I'm pants aren't I?