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Talk about every stage of pregnancy, from early symptoms to preparing for birth.

Please could someone (ideally medical, but I'll take all comers) reassure me about Down's result?

48 replies

RainyWednesday · 04/04/2008 14:39

Hi all

I'm just looking for some advice/reassurance about my Down's screening results. Overall, it is 1:664, which isn't too bad considering my age (31, 32 by the time I'm a mummy!), although I would feel happier if it was in the tens of thousands, like most people I have spoken to have been

However, I had the combined test (ie scan + bloods) and while the scan was reassuring (1:2500-odd), the blood test result seemed worryingly high: 1:124 (eep!).

I KNOW that it's the overall result that should count and I know that if it had just come back as "low risk" rather than telling me the figures, I would probably be fine. As it is, I am hormonal and bricking it and have already had a good hysterical cry over my husband. I have also read somewhere that the blood test is more accurate than the scan but have no idea whether this is true or I've misunderstood (ie whether it means just a blood test is more accurate than just a scan).

I did do the sensible thing and bring it up at my 16 week midwife appointment yesterday. The MW told me that if there had been any cause for concern then I would have been advised to have CVS/amnio. She then read my notes and mentioned the fact that it says there that CVS/amnio was discussed with me and I refused it: in my memory, her tone has now become suffused with surprise and alarm, suggesting I should have had further tests. In fact what happened was that the sonographer pointed out that the risk of MC from having further tests was higher than the risk of having a child with Down's and I agreed: this was then noted down as having discussed further testing with me and me refusing.

I apologise for the length of this post, but would be very grateful for any advice/reassurance!

RW x

OP posts:
RainyWednesday · 04/04/2008 18:13

I am scared of the impact that having a Down's syndrome child would have on the rest of my life and I'm scared of the impact it would have on my (if looking after a child with special needs demanded too much time and attention to the detriment of my other (currently hypothetical) children). And yes, I'm probably scared of having a less than "perfect" child.

OP posts:
RainyWednesday · 04/04/2008 18:14

The above post really needs the word "family" in it to make sense

OP posts:
NotABanana · 04/04/2008 19:04

In that case you need to have an amnio to find out for sure.

seeker · 04/04/2008 19:15

I had a "high risk" nuchal scan with ds - 1:125. The way I though of it was "OK seeker, here's £100 - go and put in on a horse" Would I put it on the 125 to 1 shot? I most certainly wouldn't.

It is sometimes hard to talk about this - I understand that you are worried about upsetting people, but it seems to me to be quite OK to say that in an ideal world, you would not choose to have a child with Downs, and you would like to be as well prepared for the possibiity as you can possibly be.

thelittlestbadger · 04/04/2008 19:24

Hi Rainy. I know what you're going through! With DD we went to the foetal medicine centre and had odds overall of 1:798 (I'm the same age btw) but in our case the nuchal measurement was high at 3.2mm and the bloods were low.

DH and I decided not to do an amnio as DD was IVF and didn't want to risk m/c - as someone else said it would purely be to be prepared. Anyway, discussed it with the midwife who was a bit dismissive and raised it again at the 20 week scan where the sonographer took a lot of trouble to check for any DS markers which all came back negative. There was a little residual worry in the back of my mind all through pg but there is anyway tbh.

DD was fine, and unless you want to do amnios etc when the Fetal medicine centre is really good, it is best just to put it out of your mind or read the SN boards which are often incredibly uplifting.

whatme · 04/04/2008 19:38

re: scan, I didn't have to pay for my scan, I asked if I could discuss my concerns with the consultant and he agreed on a detailed scan, but did explain that it could not conclusively rule out Downs it could look at indicators or markers that may be linked to it. Do not worry about other people being annoyed or what they think, I know how you feel and I think it is quite normal to look for some reassurance.There is always someone worse off than you as I was told at the time of the cleft diagnosis, but that does not help you at that moment in time.You need time to get your head around it all,but when you first get these results you always think the worst, and with a bit of time and information things soon look better. Good luck and take care
I came up against

crimplene · 04/04/2008 19:46

Hi Rainy.

I don't agree with NotABanana about you needing to have an amnio to find out for sure from what you've said. Another route would be to find out more about what it might be like to have a child with Down's syndrome; some of your fears might be allayed by knowing more about it, or you might feel some are well-founded and would convince you that even a very tiny chance of having a child with Down's syndrome is more than you would want to take on; in which case an amnio would make sense.

Yes, the overall chances are the important ones - the higher result has been adjusted by the other one to give your overall result, so it is taking both into account and is the more reliable figure.

I had a 'high risk' result back from the triple test (1:13 for spina bifida, not Down syndrome), they couldn't find the problem on any scans. DS has another SN that they didn't find before he was born and can't test for and it doesn't make a jot of difference to how fabulous life with him is and how happy he is, and the experience has changed the way I think about ante-natal testing a lot.

NotABanana · 04/04/2008 19:49

I read it as she would consider termination if the baby had Down's so the amnio was the only way, afaik, to know for sure.

Apologies to OP if I am wrong.

crimplene · 04/04/2008 20:10

Yes, NotABanana that how I've read it too. I understand the OP to be about Rainy feeling anxious about a test result. Don't get me wrong, my views are actually very pro-choice.

I just thought that there are two ways of looking at high anxiety levels. She could try to eliminate the remaining possiblity of a child with DS by having more testing, but my experience has been that it's impossible to do that as we can never get the guarantee of a 'perfect' child, so she might not get the reassurance she wants by going down that road.

My point was that Rainy could also look at whether her fears are justified - I don't know, I don't have a child with Down syndrome, but there are quite a few people about who do and my impression of what life may be like with DS is that it may not be so bleak. My experience of life with my DS even though he has an SN has been fantastic.

StarlightMcKenzie · 04/04/2008 20:22

This reply has been deleted

Message withdrawn

maxbear · 04/04/2008 21:00

I was 30 with my first, 32 with my second and both times I declined any screening. As a midwife I know how much it worries people and that the false positive rate is so high. (A friend had a 1:2 chance, normal baby) I also would not have considered a termination myself which obviously does affect my decision. I enjoyed my pregnancies both times and never worried about downs. (both my children are normal) I would love to have another baby one day but due to my dh's job prospects and various other things it will probably not happen until I am 36 or older. I will still not have any antenatal screening, I would just look at it as being a 99% chance of a normal baby and if it happens I would deal with it.

Think of a room with 664 babies in it (the noise!) Pick one out. Is it the one with downs syndrome? You can almost not imagine it being that one. If it was a room with 664 boxes in it, one of which had £1million and you only got one try, you would not be that excited at your chances would you.

Alexa808 · 04/04/2008 21:24

I had 12 week scan with 1:821 risk, combined risk 1:4421. I am 27 years old. I went through NHS and they didn't do a blood test. My friend in the Netherlands is 34 and had a comined risk of 1:5000+. Her Dad is a doctor and she said that it's the scan results which more emphasis is placed on.

This thread has now gotten me worried, maybe I ought to have a blood test done

RainyWednesday · 04/04/2008 21:50

Thank you all for your replies - I am feeling much more reassured

Before getting PG, I thought I would consider a termination if my baby had Down's, but now, at 16 weeks, I know that that's not going to happen. I'm not even willing to risk the chance of miscarriage by having further tests because I don't think I could cope with losing this baby now (and certainly not with the idea that I'd done something to cause it).

I did have a look at the Down's assoc website earlier but found it too upsetting at work so had to stop. I'm also aware that there could be lots of things wrong that it is impossible to test for and to some extent I'm probably just focusing all of my anxiety on this one issue, just because of the blood test results.

StarlightMcKenzie, that is just what I wanted to hear, thank you

And Alexa - I'm sorry for getting you worried. 1:4400+ is great odds, so please try not to worry about it!

OP posts:
eidsvold · 04/04/2008 22:28

I can't comment on chances etc BUT i can tell you what it is like to live with down syndrome.

When I was 20 weeks pregnant the ultrasound picked up a heart defect in dd1 which turned out to be very serious but repairable. After having a fetal cardiac scan - we were told if dd1 was born without down syndrome it would be very very rare indeed. ( we have since learnt that our chance at that stage was about 1 in 2) We declined further testing even though it would have been with Prof Nicholaides at Harris Birthright Trust. ( the man to have if having an amnio/cvs)

Our dd1 was born with down syndrome. At 8 weeks old and 8lb soaking wet - she underwent two open heart surgeries. After three weeks in London post surgery we went home. She now is a healthy almost 6 yo - in terms of her heart defect - if you can't see the scar you would not know.

Day to day care post birth - she was a dream to care for despite being in heart failure and needed ng tube feeding and regular medication. Post surgery - she was fine.

We participated in early intervention and support - physio, ot and speech. Dd1 is and has made progress in all those areas. She is somewhat behind the 'average' child BUT she gets there. She was 3 when she walked - now she sprints

At almost 2 we moved to the other side of the world ( back to my home in Aus) Here she has a fab life.

When she was 2 1/2 and 4 1/2 we had two other children. How does her disability impact on their life - not that much - to both dd2 and dd3 - hospital visits, therapy visits are just what our family does - like other families go to church ( for want of an analogy) Dd2 thinks therapy is a place for her to play too. It is only now that she is getting a little older that we have had to keep her out of the room as she wants to 'help' dd1 and dd1 gets lazy then and lets dd2 do the work.

At 3 dd1 attended a mainstream kindergarten as well as a special needs kindy. Now at 5 she is in mainstream school 3 days a week and attends the sn unit 2 days a week. By the end of the year our goal is to attend mainstream full time.

dd2 wants nothing more than to be like dd1. SHe gets that there are things dd1 is not quite up to speed with but she deals with it. In fact she is quite annoyed that she won't have dd1's teachers at the sn unit and when I explained it was because dd1 has down syndrome and sometimes needs a little more help than she does - she came back two days later asking me if she sometimes needs a little help - I said yes - she says well then I need to have x and y as my teachers too.

Dd2 thinks nothing of coming to the office of our down syndrome association when I attend morning teas - she sees it as just playing with the other children - even though she is one of a couple of nt children - the rest have down syndrome.

As to other children - I have had one not so nice situation. At mainstream school at the moment - the kids all love her and argue over who is going to sit next to her at carpet time. They rush to tell me when it is her turn for the treasure box or if dd1 has done something amazing that day.

One of the reasons dh and I refused amnio etc ( other than my absolute dread of needles) was that we had first hand knowledge and experience of other families living with down syndrome. I know a young man who is my age - has a job, is a valuable member of the community in which he lives. Dh's former boss had a daughter with ds and their experiences taught us that Down syndrome was not something to be feared but to be embraced.

For us - it is part of who dd1 is - would I wish it away - no. Would I wish away the horrible judgey looks from others in public or the tsking when dd1 is trying to speak with people - sure, would I wish away the well meaning but trite - boy you have your hands full comments as if dd1 is an extra burden on our family - sure. I simply tell people we knew before she was born and that she was very much a wanted part of our family. Usually stops the judging or pitying comments.

This is probably a very long post but whilst it can be upsetting looking at the DSA UK website - I know dh found it great to chat with them just about dd1.

Even now day to day - dd1 is far easier to care for than dd2. As to dd1 and her two siblings. She adores then. SHe was a little too young when dd2 was born although she loves her BUT when dd3 was born last year it was all she talked about - her baby x. She was the first one dd1 looked for when she got up, came home from kindy, camme home from being out. She is also a little partner in crime with dd2.

I can tell you there are times I have wept - sure - what makes me the saddest - knowing that no matter how brilliant dd1 is - there are always people out there who think she does not have a place in our community or even on the planet. People who think dh and I were irresponsible for having her knowing that she would have special needs. People who think one extra chromosome makes her less of a person.

eidsvold · 04/04/2008 22:29

i was going to say I had pics on my profile but I have taken them off. I will add some for you to check her out if you like.

RainyWednesday · 04/04/2008 22:40

Hi eidsvold, and thank you for that. It is great to read of a positive experience (and FWIW I don't think you were irresponsible for having a SN child: I just worry that it is wrong for me).

I don't think it helps that the main experience I have of Down's as an adult was a client when I worked in family law, which seemed very negative: the parents had split and the mum seemed to be struggling continually with one thing after another. Reading positive stories helps!

Anyway, it's in the hands of the gods now, so I'll try to relax and enjoy being PG

OP posts:
ChutneyMary · 04/04/2008 22:51

Eidsvold, you write beautifully about your daughter. She sounds like a wonderful girl.

Rainy, I am sorry you have this worry at the moment. I think your worry levels start as soon as you wee on the stick and don't ever end. I worried incessantly about my DD1 when pregnant as I had various bad experiences but she is 3 today and fabulous. Your odds are really very encouraging. You wouldn't stake your last tenner on a horse with those odds - overwhelming likelihood is that all will be well.

Take care

Peachy · 05/04/2008 09:58

Rainy I think it's worth remembering that when you have a child with additional needs, you don't have an SN child- you have your child. It's hard to see that from outside until you're there, though, which you will never probably be.

yes there are ahrdships often linked to having a child with SN, for some people their child is so severely disabled thay will always be the case.... with most though they are caused by other people and not the child (endless forms, the LEA etc)- and you learn to separate those pretty quickly. Love, in itself, makes you able to cope.

I hope to goddness you never have a child who has SN but if you did, your evident love for your baby would keep you going and you would find joy in that child. I have 2 with SN, and the baby I am due to deli ver any time has a much higher chance of ASD as a result. I would never wish for him to have the syndrome but my experience of having ds1 and ds3 has taught me that you adjust to cope and that love really can handle anything if it needs to.

bigmouthstrikesagain · 05/04/2008 14:12

I am considering a private nuchal scan because my health authority don't offer them and the midwife at my booking in yesterday made it very clear that she thought the triple test was the least helpful - she also said that I should do one or the other not both as otherwise I could be facing the dilemma you are now in. .

I would say the risk sounds small - but I can understand what you are feeling. We are going to pay for a scan but I will be very unwilling to do an amnio as the miscarriage risks are too high for me to accept. There is no easy answer - I hope you can come to a resolution you are comfortable with and good luck with the rest of your pregnancy.

NotABanana · 05/04/2008 15:57

Rainy, I really think you need to talk through this with someone. One hand you say you wouldn't terminate and then in another you worry it is wrong for you to have a child with special needs.

FWIW I was very blase before I got pg and assumed I would terminate if I had a child with a disability as I wasn't sure I could cope. At 7 weeks I was told I was probably going to lose the baby and everything changed. I had scans with all my babies but only to see them. I refused any further tests - even when we thought our son was at risk of having Edward's syndrome.

I wish you luck.

Alexa808 · 06/04/2008 23:11

Rainy, I know, sort of caught myself again. I'm wishing you all the luck and health for yourself and baby. I have a bit of a paranoid streak if I go too long without appointments and at 27 have even considered amnio, just to be sure.

Eidvold, you do write so eloquently and I have actually never read about what life with a Downs Child could be. I certainly respect people if they decide to have a child with SN and absolutely admire them for their strength. You know what, your last sentence made me really teary eyed. I think it's very well said.

babycakes26 · 07/04/2008 16:24

Eidsvold you are an inspiration. My NT results have put me at 1:30 (high risk) I am 39 and 14+4 wks pgnt. I have declined any further screening although my obs was quite persistent. My DH and I are 100% sure we would not terminate this preganancy purely on the grounds of an extra chromosone as you put it - once we heard our DC's heart beating there was no going back for us. We have however had a few strange reactions from people who are surprised we don't want to have an amnio. I find my decision easier as the weeks go on and from the more I read.

slinkiemalinki · 07/04/2008 16:39

Rainy
Probably not much help (compared to some of the brilliant posts below in particular) but thought I would chip in. Given the blood test you are worried about, I thought I'd tell you that my OB couldn't see the point of it with a decent nuchal result (I asked as it is standard at my hospital for women 35+ only). He said with a healthy nuchal (my measurement was 2mm which I wasn't pleased with, but combined with age 30 I was about 1:1800). I then asked again if I should have the bloods and he said it would only be worth doing if I was borderline say 1:300 - i.e. to help me to decide whether to have a CVS. He didn't seem to place a lot of stock by it. And it's not a resources issue as I am paying. Hope you come to a decision you are happy with.

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