high downs count . anyone else?

[billyog]

midwife called this evening. The blood test they took for downs screening has suggested an incresed risk. I have to go and see the consultant in the morning to discuss my options. I imagine my options are amnio or not? I've known a few ladies who've had them and I know this situation is not uncommon but I'm really not sure what to do. I'd like an amnio so they can tell me all is fine and then I can get on with my pregnancy. If the baby does have downs then my family and i will have time to prepare for their arrival. The risk of misscariage is very small but what if.... How bad would i feel then? Sorry, i'm rambling. Anyone else have to make this decision?

Very tough decision billyog. The prospect of this decision was one of the reasons I decided not to have any scans.

So I'm not much help as I have no experience but I can tell you two of my friends were told they had an increased risk and then went on to have non downs babies. They resented the worry it caused them.

I also know a woman with a downs girls who's one of the nicest and best adjusted kids I know.

Good luck whatever happens and I hope you can enjoy your pregnancy.

Hi billyog. We also got back a high (1/96) result from my blood test. It did upset me a lot - I think I had been blissfully expecting it to be normal for my age (35+) and it was a shock when it wasn't.

However, after tears and talking it through with DP, we realised we really didn't want the amnio. I've had a previous early miscarriage, and couldn't cope with the thought of it possibly happening again and feeling responsible. And we knew we wouldn't have terminated anyway - so for us, it really wasn't worth the risk.

Although I wouldn't set out to have a child with Downs, we realised we knew we'd love and cope with our baby however he comes out - obviously it'd be nicer to be prepared - but for us, as I say, not worth the risk.

Having said all that, the decision is different for everyone, and I hope you can make a decision that YOU'RE comfortable with.

And - if I was at that stage in pregnancy again, I wouldn't have the blood test - I wish I hadn't!

I think it depends on if you would be able to cope with the rest of your pg not knowing. Did they give you the actual risk? It might be that the risk of Downs Syndrome is less than your chance of miscarrying through an amnio. Also check the amnio safety rate at your hospital, some places are safer than others.

Best wishes.

Hi Billy you sound as if your baby has Downs they will be wanted ie you state you will have time to " prepare for their arrival" I think amnio risk is about 1% iirc.

You really need to speak to Thomcat,I think who has a child with Downs Syndrome.

I have a dc with special needs (She has been diagnosed with a "smooth brain" it did not develop corectly.)From my experience all I can say is that if your dc does have additional needs,although initially it is a shock,you love your child for who they are.Yes it can be hard,but there is support out there for the early years.

ps if you try the "special needs" topic this may elicit some useful replies

bEST WISHES,wRINKLY XX

Hi Billy,
all I can do is share my experience.
I also had a high risk result - 1/60 and was asked to come in for a scan the next day. I was so stunned I could not make a decision on what was best to do and told the consultant I wanted to wait until my 20wk scan before making any decisions.
In that time I felt DS moving and there was no decision to make we were having our baby no question but I really wanted to know if he had downs. Our consultant was great and said we could have the amnio at any stage of the pregnancy we decided to wait until later on.
In the end I didnt have the amnio. Yes i found that it was a bit scary when he was born as i couldn't look at him until my DH had seen him. but I dont know if this was because of a terrible labour experience or the question if he had downs.
Wouldn't have the triple test again - it caused too much stress!

hope all goes well X

Have you just had the blood test? If so, could you have a nuchal scan as well (which has no miscarriage risk)?

I had both and my blood test gave a result of 1:124 but my scan was 1:2000+, so combined (with my age) it worked out as 1:500-odd and is apparently more accurate than just the scan or just the blood test.

Hi Billy

I have 3 daughters. My eldest, Lottie is 6. She has Down's syndrome. (By the way for those that care to note, she's not a Down's, she is a person, a wonderful individual, my daughter and she just so also happens to have Down's syndrome. Sorry but a very important point I have to make).

Anyway........

I am happy to talk to you, on here, by email, in person, on phone, anything, if you want to talk about what it's like having a child with DS.

But in a nutshell, it's pretty much like having any other child, hard work. In some ways harder, in others, easier.

Bottom line - she's great, other than making her a bit less stubborn I wouldn't change a thing about her, she's a credit to my family and her school and there should be more like her.

PS - Pics of her on my profile if you want a peak

Thomcat,I hope you did not mind me citing you in the thread?I read a lovely post you had put about your daughter in another thread.I hope my post did not come across as insensitive in any way. Best wishes,Wrinkly xx

Dear Billyog,

My dp and I too have recently been given the high elevated risk of downs syndrome.

My partner is very sure of what is the right thing for us, whilst I have been more uncertain. Its been a week since we found out and frankly its been pretty horrid.

Ultimately we have decided to wait until the 20 wk scan. Our risk is less than 1% and ultimately I trusted the pill for many years satisfied that the 1% risk was low (despite the fetal care unit suggesting that our 1% risk was now high ).

Personally the tests will only help if you know for certain that the pg will be terminated if the outcome is poor.

It is only today that I have been a little calmer and that is only after my dp admitted last night that he was beginning to feel excited at the prospect of being a parent and that he loved both me and the baby (whatever the outcome).

I hope you are receiving much support, be kind to yourself and let me know what you decide.

thomcot Lottie is beautiful - did you know before the birth that she may have downs syndrome?

Hi All,

Sorry to butt in BUT i just thought I would say that the blood test and also the NCT scan are not diagnostic, they are merely screening tests (sorry think someone mentioned having the NCT as well).

My DH and I decided that if the test came back high risk, we wouldn't go any futher with the screening as we would love the child no matter what.

Thomcat - BEAUTIFUL PICTURES!!! P.s. what was the water birth like???? I would love one.

P.s. at the 20 week scan, the sonographer should be able to check vital signs such as the nasel bone being formed and also the cranium size and shape. x

Thanks for all your responses guys. We went to see the consultant this morning. My risk of having a child with downs syndrome is 1:130. We've decided not to have the amnio for many of the reasons you've all mentioed and I'm going to try and relax and enjoy the prgnancy, what will be will be. However, if I find myself continuosly questioning my decision then i may opt for the amnio. The risk of misscarriage is about 1:200/300 at my hospital (I'm getting carried away with statistics) Thanks for your imput thomcat, I may well take you up on your offer!

Wrinklytum - gosh no not at all, on either count, quite the opposite, I'm very grateful, and pleased

Kd73 - no I didn't know, I didn't have any tests, frankly it wouldn't have made any difference.

Pinkali37 - Thank you. Water birth was amazing. I was stunned the difference water can make and how much it can ease pain. Having my DD swim up into my arms, being the first and only one to touch her. Just lovely, really lovely

Billyog - sounds sensible. And I'm always around, shout if you need me ok. But I can honestly promise that the thought of having child with SN's may seem scary, the reality is quite the opposite. Lottie is just anothr memeber of the family, ...oh ok, she's a bit more than that, she's the apple of everyones eye, but you know what I'm saying Good luck if we don't speak again and hope you enjoy your pregnancy and have a happy and healthy baby (just like ALL of mine )

hi all,

i'm currently going through the mill as we are very high risk 1 in 10.

i had the nt scan done which was 2.9mm and then private bloods done at 13 weeks(last week) which combined changed our risk from 1 in 53 to 1 in 10.

we are booked in for amnio on wednesday, keep having doubts but in my head it seems clear and at least we would know for sure.

has anyone else had a similar result?

Hi Sophielec,

Sorry to hear you are going thru the mill at the moment, you will note from above that my dp and I were given an elevated risk less than 2 wks ago.

Remember in 1:10 is still a 90% chance all will be well.

Good luck for the amnio and I hope you get the answer you want.

at 20 weeks we were told due to the heart defect they found in our daughter - we would be very lucky if she was born without down syndrome. We have since learnt many years later that our chance was around 1 in 5. We chose not to have an amnio - mainly cause we were not going to do anything with the information. She will be 6 this August. We have no regrets. She is fabulous.

so without an amnio - we were basically told our daughter would have down syndrome when she was born. Her heart defect is very very common in children with down syndrome. It is incredibly rare to have this heart defect and not have down syndrome.

Hi Eidsvoid, can you please tell me abit about your daughters heart condition?

We have just found out our 20 wks scan will be performed at almost 23 wks but am still quite concerned about the implications of bringing up a child with a heart condition (purely my ignorance here). Any information welcome...

she has a complete AVSD - atrial ventricular septal defect. Basically missing the central wall between the chambers - upper and lower. At 8 weeks old she had two open heart surgeries ( most children only have one for this condition) She took about three weeks to recover - average child would take a little less. She has had no other cardiac issues since. She is almost 6 and her cardiologist said at her last appt that the question mark over a possible valve repair as a teenager was looking very very unlikely. So the only thing for her now is that she needs antibiotics prior to any surgery or dental procedure as she is at risk of endocarditis.

Otherwise ( think her pic is still on my profile) she is doing great. Her cardiologist also said last appt that her heart is almost like a normal one ( she has a very very very small leak.)

This is a very common heart defect amongst children with down syndrome - some often have asd or vsd if they do not have an avsd.

In terms of your scan - I had my scan at 21 weeks but she did not show us everything and no matter what we did dd1 would not turn over so they could check her heart etc. We had to go back about almost 23 weeks and that is when they actually told us they felt dd1 had a hypoplastic left heart - very very serious heart defect ( as is dd1's) but with a lot less positive future for many.

I was referred immediately to a fetal cardiologist who diagnosed the AVSD and offered us an amnio which would be done almost immedicately ( at Harris birthright Trust - which is where we were - with Prof. Nicholaides) but we said no.

hope that helps.

prior to her surgery she had to have regular medication and was fed with an ng tube. We had the tube so as not to tire her out with the effort of feeding. Post surgery she needed medication for a couple of months and that was it.

To be honest for us - it was pretty easy - just 4 hourly feeds and 8 hourly diuretics prior to surgery. Post surgery she took to a bottle like nobody's business and it was cardiac medication every eight hours.

Some parents have been able to take their children home but they have needed oxygen - something we did not have to deal with.

Thanks Eidsvold, your daughters are lovely and it seems as if your eldest is in good health, which is great.

Hi Sophielec
We had our scan and bloods down last week, overall odds of 1 in 7. Bloods were 1 in 4, but scan was very good. Got CVS next week. Hope that amnio went ok.

Billyog - I had an amnio with this baby and paid £100 for expedited private analysis - from the doctors lab - so got the results in 36 hours - because I couldn't stand the thought of waiting 10 days to get the result. It all came back okay though.

The amnio was quite painful but you do get counselling before and afterwards and it was okay.

Billyog,
Instead of looking at it as a risk of 1 in 130 look instead at the risk assessment of 129 out of 130 babies with this result will be entirely healthy x