Just had a phone call to say I have a 1:50 chance of having a baby with downs syndrome

[cece]

Midwife has bombarded me with extra tests I can have but feeling a bit shocked. Not sure what to do? Anyone had something similar who can share their stories please?

thanks for the recommendation fortyplus

they siad they would do it at local hopsital but I am driveable to Herts...

I had an amnio at Queen charlotte's in West london if that is easier for you. they also had a very high success rate with no m/cs. all was fine for me, but v stressful thinking about it beforehand. once we'd made the decision to have the test it was easier. it was my second dc and i was 38 or 39 at the time. Def agree with poster about giving each other time and space to think about it.

take care ,

Thanks - yes Queen Charlottes fairly easy for us.

I am off to bed. DH been very quiet all evening. None of this is helped by the fact we have had a bad year...

Since Feb;
DH been off work for 6 weeks with depression, still not great and on ADs
DH dad has died
DH has been made redundant and has had a legal fight with his old employer.
We have had our (lovely) surprise/shock of this pg, now the high risk....
Poor man {sad]

Hi Cece,

I'm 20 weeks pregnant and have recently been in a similar situation to you.

I had a nuchal test combined with blood tests. My nuchal was fine but the bloods brought the downs risk to 1:85 and the risk of my baby having Edwards syndrome to 1:50 (bloods on their own were 1:8).

I decided to have a CVS because I couldn't bear not to know and also Edwards is not compatible with life. The CVS was fine - uncomfortable, and obviously I was very scared of miscarriage.

We had our results 3 (long) days later and they were clear.

I found ARC really helpful, they talked through my nuchal results with me and helped me to understand them properly. For what it's worth they told me that generally much more emphasis is put on the nuchal result than the blood tests and this was also very much the impression I had from the consultant who carried out my CVS. But obviously the only way to know for sure before your baby arrives is an invasive test.

I tried to think about the risks in terms of percentage to keep them in perspective - there was a 98% chance that my baby DIDN'T have Edwards syndrome.

I remember only too well the stress of the whole situation and constantly having the statistics running through my head. It is so difficult to make the decision of whether to take an invasive test or not, my thoughts are with you, and whatever you decide will be right for you and your family.

xx

well can't sleep so here I am!

Mrslurkalot - thanks for sharing. I read online this evening about the NT scan being more revealing, She didn't say anythng about Edwards (at least I can't remember her doing so....)

I was going to phone ARC this morning so good to hear they were helpful.

cece - this the thread lulu mama referred to:

here

I have written a very long post on there - might be worth a read.

I looked at it this way - with dd1 we were told basically she would have ds and if she did not it would be very very rare - have since learnt our chance was about 1 in 5 or higher - and we have dd1 who has down syndrome. I was offered an amnio then and there - as I was 20 odd weeks. I refused and prepared for a disagreement with the foetal cardiologist. He simply agreed with me that if it would not make a difference there was no point in putting myself or the baby through it.

With dd2 we were told due to a soft marker found on her heart during 20 week scan our chance was higher than usual coupled with our already higher than usual chance due to already having dd1.

But both times I refused an amnio ( actually refused one for dd3 even though genetic counsellor felt my chance of 1 in 962 at 38 yo was too high!!)

The reason being - well with dd1 - this was our babe - we had bonded and we wanted her very much - sure it was scary - tbh I was more worried about her heart defect than the down syndrome. We have met a lot of families who have children/adult members with down syndrome - so felt in a way life had prepared us for dd1.

To me - both times - I did not need to know - there are others who have to know to be prepared etc.

For me - as I was not going to terminate the pregnancies - these were our babies and were going to be born - I did not see the point of putting ourselves through the worry of an amnio.

eidsvolf

thank you for your post. I do tend to agree with you. However, my way of dealing with these things is to find out lots of information so I feel like I can make an informed choice. So far nothing I have read has changed my mind. I think the risk of mc is too high for me to find them an acceptable risk.

Still need to talk to DH about this today and over the weekend - hopefully he will be a bit brighter today. He was having a bad day (with his depression) before we had the phone call and then he really went into himself...

sorry eidsvold

Do remember your choice will never be 'fully informed' - it really can't be unless you have experience of a child with a disability. It is impossible to know what life is like living with a disability, especially one like DS where the condition is a spectrum. You can find out further information without having a cvs or amnio if your main reason for finding out more is to be prepared (scanning of the nasal bone for example is another screening test).

It sounds as if part of the 'problem' (sorry that's probably a bad way of putting it) is having to consider dh's feelings/depression whilst dealing with everything yourself. It's a hard one. My Dh and I had a kind of rule diuring pregancy that I had the final say as I was the one that would physically have to go through invasive testing or termination etc. I know lots of people disagree with that view, but I don't know what the alternative is if you find yourself in opposing 'camps' so to speak.

1 in 50 seems screamingly high, but both ds2 and ds3 were at a mugh higher risk of severe disability, and both are fine (I know that's meaningless in terms of your case, I just mean it is something that can be lived with without going insane- we had to wait over a year after birth to find out they were OK). I have also seen a number of people go through invasive testing only to not get a definite answer.

Because of all that, I do think its important, should you do go for invasive testing, to know what you would do with any results should they come back positive. Because sometimes you start on the testing route and everything ends up even less clear and more worrying. If you would act on the results then presumably that's a risk woirth taking, it you wouldn't it might not be.

Good luck.

Message withdrawn

Cece - would you put £100 on a horse at 50:1? Most people wouldn't.
good luck.

cece - first congratulations on your pg! I remember discussing wanting another baby on another thread that you were on - I had no idea you were pg now! - v happy for you. (And still hopeful for myself )

Now re the Downs risk - I had a similar call - though longer odds more like 1:150, but still scary, mainly becasue of the immense pressure I was put under to have an amnio and the way the midwives cted as if it was a terrible disaster (one actually came round to the house with a face like thunder to give us the news - DP and I were trembling and holding hands thinking she was going to say the pregnancy wasn't viable - when she said there's a high risk of Downs I could have slapped her - it's not that terrible!).

Firstly their definition of high risk isn't that high - 50:1 is crap odds on a horse for example. There is still essentially a low risk.

Secondly think about your dates. The result of these tests is affected by when in the pg they are taken. My own dates for conception and due date were at least a week out from what I was told at the booking scan (and I knew when I conceived). The downs test results were based on their dates. I asked if them being a week out could afect the result and they said yes, it would make a "high-risk" result more likely. Remember these tests are just a guide, not always accurate.

Lastly the wise words of Thomcat, Eidsvold and others on here have helped me to see that a child with DS is every bit as much a blessing as any child and (some possible health issues notwithstanding) generally not the disaster that so many health professionals seem to make out (why they do, I have no idea).

In the event, I too strongly felt I did not want further tests, especially any that could risk the pregnancy, and said no (which was bloody difficult I can tell you - the midwife actually made me an appointment at the hospital, when we went in we realised it was for the actual amnio and the machine was right there, there were 3 staff trying to talk me into it, I cried a lot and when I insisted no, they all seemed disappointed). Instead I chose to read up on DS just in case, and by the time of the birth I felt OK with the possibility. DS was born healthy and without Downs btw.

Good luck Cece. It's your body and your pregnancy and you should decide - do what feels right.

Message withdrawn

I had a 1:30 chance after the blood test. Then had a detailed anomaly scan that appeared all normal. but the consultant said that in 50% of DS cases no symptoms would show at this stage. So chance could now be said to have dropped to 1:60 iyswim. I'm now 34 weeks. We decided against the amnio as it wouldn't have affected our decision. I can't say I'm not worried about it, but trying to not to see it as "fingers crossed she won't have DS" as that sets you up for disappointment in the case that she does and don't want to feel disappointment on the birth of a baby. But easier said than done really. It has helped talking (MN and other places) with people who have DS children or know DS people and have a very positive experience. The main thing for me is that DS is by no means necessarily a serious illness or fatal condition - all things that can happen to a foetus/baby/child at any point in their development and we can't predict or do anything to avoid. In some cases it;s not much more than mild SN.
But completely agree with others about the importance of being on the same page as DH.
good luck.

Thanks again for all of your replies. I have been a bit tearful this morning but have managed to speak to ARK. They were very nice and it was good to talk to someone impartial.

I phoned the sonographer and she was apparently expecting my call but was scanning someone. So will phone me later at lunchtime. Now I am worried about what she is going to say...

Hi Cece,

I hope you're coping ok today, It's normal to be tearful and especially as it sounds as if you are having to 'protect' your DH a bit.

Anyway, I am around on and off today so feel free to vent and if you want more detail about the CVS or amnio procedures (had one of those with my first pregnancy) then let me know.........Take care of yourself xx

Thanks lurkalot. I have now spoken to sonographer - she was actually the one that did the scan on Tuesday. She said not to rush into anything (CVS has to be done by next week) and if I can't decide to leave it and go for th amnio if thatis what we want to do.

Dh has been a bit more talkative about it. He is just very frightened of how he would cope having a child with a disability. I have suggested we find out more about DS but he says he is too frightened to find out. Think he needs some more time. I have told him though that I couldn't abort our child and he has said that he wouldn't force me to if that is what I had decided....

It is soooo difficult. I wish I hadn't had this screening test now

Hello Cece I hope you are managing to stay positive.
I know of 3 people who are/were pregnant, over 35 and all had bad results. One went to the Fetal Medicine Unit (actually not sure if that is the correct name but can look it up if you want to know) it is based in Harley Street and run by Nicolades (sp??) who actually 'invented' the nuchal scan (I think that is correct). He is a very well respected man. My friend paid under £200 but she said he was amazing, they look much closer than your hospital would at things like the bridge of the nose (it's a 3D scan and I think this makes it more accurate) which is a huge indicator in this. Anyway her 1 in 100 result came back from him as 1 in 1,900. One simple scan, no invasive tests. She went on to have a beautiful, healthy boy.
These test are also carried out in other hospitals. My other friend also came back as about 1 in 100 but she went to The Parkside Hospital (Wimbledon), I think this is near you??, and again paid about £150. Her risks were much lower again, about 1 in 1,100. She still decided to have a CVS which confirmed all OK. Her friend had a 1 in 4 result and also went for this scan at the same hospital which gave her much better odds.
I'm trying to say a CVS is not the only route. I'm sorry the other route costs so much money but hope it may help.
Let me know if you want any further information as I can find out proper address, names of doctors, etc.
Good luck, stay positive.

Cece
it is almost impossible to anticipate how you will parent a child with special needs - until you have a child with special needs.
The thing is, it is the fact that they are YOUR child that is the primary factor here.
If I had found out about autism before it happened to my son I would have absoloutely told you no - i could not deal with that.. But instead I had my son and i looked at him and that magical hormone thingy did its work and i just love him. He is beautiful and such a sweet boy and he is for me to take care of. So now I am just working out how to help my son be himself and be happy.
Even now I still could not work in a school for autism, could not cope in the same way with another child with a disability. It is just that he is Charlie and i love him and we figure stuff out.
When DS was first developng his problems my DH shut down for a whileand the more I talked about autism the more it took him away from just being withhis son. He eventually told me to leave them alone and now they are as close as it is possible to be. DH ruthlessly buys his love all weekend and spoils him making the week ahead with school really boring but he is totally in love with Charlie.
I wish you both all the best and I hope the weeks ahead are not too strssful.
Come here often, ask questions and don't feel bad if you feel sad. These things are a shock and it is like a small grief - the loss of the life you expected to have.

My lovely kids are on my page if you want to have a look. DS2 is Charlie. Profound lifelong disability - but we have our happy times. Probably more than most.

Just scan read this and trying to comfort not preach. You and DH will make the right decisions for YOU. Take your time and remember that you must weigh all the information you can get your hands on but no one else is going to live your life. The only people whose voices count here are you and DH. Good luck

Janus - thanks I have been looking into ectra scans so may take you up on th eoffer.

pagwatch - thank you I think I undersatnd what you are saying.

I have made an appointment to see the consultant next Weds to go through the results and discuss the options. That means becasue of the timing I have pretty much ruled myself out of CVS test as it has to be done by end of next wek.

Hi there, glad to hear that DH is opening up a bit, and that you found ARC helpful.

Maybe if you do some research into DS he may be open to reading it at some stage.........

If you are able to wait for the amnio it has a lower risk of miscarriage and having had both, the amnio feels less invasive somehow. Much smaller needle and goes nowhere near the baby or placenta.

If you have made the decision to continue with your pregnancy, I suppose it would just allow you to know one way or the other and help you and DH prepare. It's just weighing up the risk of miscarriage 'v' the need to know...........more statistics!

I know what you mean about wishing you hadn't had the diagnostic test in the first place, it just opens a whole can of worms to deal with doesn't it!

I definately felt better once I had made a decision one way or another, and I'm sure you will too.

It's a horrible time and if you're anything like me you will have become very protective of your baby.......

Take care xxx

Please remember that a 1 in 50 chance is only a 2% chance that he or she will have Downs Syndrome - which is really low.
No test can guarentee a "perfect" baby, so nothing is going to give you total reassurance.

Sometimes I think testing just serves to breed anxiety and to hold you back from relaxing and enjoying your pregnancy.

Hello there,

thought I would pop in to say got an appointment with consultant tomorrow. He will go through the results (I hope anyway) and explain them then think he will go through the different testing options again.

I myself have declined tests for both my DS and for this pregnancy. On the basis of relgious grounds.

I have a friend who did have the tests and an amnio and the amnio introduced septacemia and the baby died. They did not even put she lost it because of the amnio on the death certificate they just put septacimia.

This leads me to wonder how do we really know the m/c rate when they don't record the actual primary cause.