1 in 2 chance of Downs

[nicki70]

Hello Girls,
Just wondering if anyone can offer any support. I was given 1 in 2 chance of my baby having Downs Syndrome at my 12 week scan (I was actually 12w4d), my Nuchal measurement was 3.7mm & after having my bloods done got the dreaded 1 in 2... I'm 40 years old.

This is my 1st pregnancy after 3 rounds of IVF & naturally we're very worried (devastated). We've already decided whatever the outcome we both definately want to keep the baby, but just need to know now so we did an amnio yesterday & have to wait till next Thursday to get the result (10 day wait). In the meantime we were sent off to London to have a fetal echo of bubs heart & although the heart is normal thay could spot some 'bright spots' which could be nothing but are also soft markers for DS. Also yesterday they took a few measurements before doing the amnio & it turns out bubs femur bone is on the short side, so another soft marker. There is a very prominate nasal bone though.
I know it's not looking good but just wondered if anyone could sent me some encouraging words of wisdom? It's going to be a long long wait for the results.
Nicki xx

I have no wisdom to impart sorry! But did want to share some encouraging words :) Sorry you are going through this hard time (especially after 3 rounds of IVF that must have been hellish)

I hope everything goes well for you in your pregnancy and whatever happens your baby will be perfect

You might want to consider posting this in the special needs bit of mumsnet so some mumsnetter who have some more practical advice can help you to know what to prepare for..

Lots of luck and best wishes for a healthy pregnancy. xx

www.thiswayup.org/

www.mumsnet.com/Talk/special_needs

If the test comes out positive why don't you see if there is a group for parents of children with Downs so you can meet some children to give you ideas of what to expect and to help you build up a support system with other parents.

Thank you Evildead!

I thought I had posted it in the ante natal/special needs part - I'll try again!

Hi Nicki

First of all I am so sorry you have had these results, it must be especially difficult after all you have gone through to get pregnant

I had a screen positive at my nuchal scan too, and given fairly high odds of 1:65, but we decided (for reasons due to our circumstances) to not have any diagnostic testing and I am now 37+2, so I applaud you for making that decision and having the amnio already, as I do feel I put my head in the sand a bit...

Anyway, sorry for the rabbiting!, I just wanted to reiterate EvilDead's point that there are lots of places you can seek advice - the board here for Antenatal Tests and Choices is fab, although if you've already made the decision to keep your baby then maybe the Special Needs section may be better?

Also I found it helpful to google my local area and see if there were any support groups around for families with a child with Downs Syndrome; I found it really reassuring to know that if our son does have DS I will have somewhere to go and be able to meet people in the same boat.

Sorry I think I am waffling a bit, on my lunchbreak at work, but I hope I've been some help.

I hope everything goes okay for you but if you do have a downs baby it's worth reading this below. It was written by a parent of a downs baby and given to a family friend on the birth of their downs baby which had come as a complete shock. I just think it is beautiful and it brings tears to my eyes every time I read it:

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome To Holland".

"Holland?!?" you say, "What do you mean "Holland"??? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy"

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around?and you begin to notice that Holland has windmills...Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy...and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes that's where I was supposed to go. That's what I had planned".

And the pain of that will never, ever, ever, ever go away...because the loss of that dream is a very significant loss.

But...if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things...about Holland.

© 1987, by Emily Perl Kingsley. All rights reserved.
Reprinted with permission of the author.

www.mumsnet.com/Talk/antenatal_tests_choices this is the one you are talking about nick70, the one i sent you earlier will be for parents who already have children with special needs (I thought they might be able to give you some advice as they have been there and done that, so to speak!)

Clarabells post made me cry, that's lovely.

Clarabell that is lovely

Hi Nikki70 I am sorry to hear your news. I had a baby with Downs in January this year, we only found out when he was born, nothing came up on the scan (we chose not to have bloods done, and you don't get nuchal in Northern Ireland unless private). It was a big shock, but he is a really lovely baby and I love him so much. There are a few other mums of children with Downs on the special needs board, or you can message me if you have any questions.

My son has Downs, he is almost 7 now. I didn't know until he was a day old.

It's really not that big a deal, IMO. Yes, he has heart problems and surgery to correct that at six months, yes his learning is delayed, but tbh, my other children are that much older (now almost 10 and 14) I forget what they were like at his age. Plus, he is really just my gorgeeous little boy, I don't compare him to others.

I am so glad I have my darling little boy and whilst things are different to how they might have been if he didn't have Downs, I really wouldn't change him for the world, he is just so absolutely goegeous and everyone adores him.

Had I been told he had Downs before I had him I would have thought I could never cope, but I can work (in fact had my own successful business prior to moving to a different area), enjoy nights out and do everything else I could have done if he didn't have Downs.

I didn't want to read and not comment. Sorry that the results have come back as 1 in 2 chance.
No words of wisdom sorry. I understand there are health issues with Downs Babies but all the Children and Adults I've met with Downs have the most caring, generous and upbeat personalities with beautiful smiles that light-up a room.
Whatever the results show, Congratulations! you're pregnant! and having a Baby!

I?m not sure if this helpful but anyway? at 27 years old and pregnant with my first baby I was given a 1 in 2 following nuchal screening (no bloods). I am almost certain my increased measurement was 3.6mm. The nasal bone was absent. I was booked to have CVS four days later. From the moment I was given the results of the nuchal I had no thought or hope that the baby didn?t have Downs Syndrome. But the results of the CVS were normal, the fetal echo that I had at 16 weeks showed no problems with her heart and I now have a very healthy happy two year old daughter.

Congratulations on your pregnancy!
Three rounds of IVF must have been so hard.
I loved Clarabellarocks post.

I hope the wait for news isn't too unbearable, all the best.

Like midori and Eliza, i too have a dc with downs syndrome (he was 7 in Oct) and we didn't find out until he was born.
It was a massive shock and difficult to come to terms with so i completely understand the emotions that you are feeling at the moment.
We have gone on to have ds2 who is 5 and dd1 who is one! I am also 24 weeks pregnant so it is fair to say that we have carried on our life plans regardless!
He is very much the big brother and despite minor medical problems - grommets, glasses, insoles he is well and we wouldn't change a thing!
I didn't feel this positive when he was first diagnosed, in fact I was literally on the floor weeping. I think that part of the problem is they (the professionals and other helpful individuals) tell you all of the things that can be difficult in their and your future. If this happened when every baby was born ie. They will drop out of school, go into drugs, get into trouble with the police, have dreadful childhood illnesses, we would never have kids.
I am quite happily answer any questions you have as I'm sure will all of the other mums on here who happen to be a parent to a child with downs. The downs syndrome association are great and will send loads of up to date info if you want it. And let's remember that there is still a chance that the baby will be genetically 'normal'. What ever the outcome I'm sure after your efforts to have a family that you will be brilliant parents and one day look back on this difficult time very differently! Take care and remember to enjoy every minute of this precious pregnancy every last ache and pain! X

I'm sorry I don't have any personal experience to share but your post did remind me of a beautiful birth story that was written by a mother of a new baby with Down Syndrome. (I think I must have found it doing an online search for birth stories.)

It has to be the most honest, moving and inspiring birth story I've ever read. Just incredible!

www.kellehampton.com/2010/01/nella-cordelia-birth-story.html

Best wishes for a happy family. xx

Hello and congratulations on your pregnancy! I'm sorry you are going through a stressfull time at the moment, waiting for results.I know a man who has downs and he is the most loveable guy i have met,always helping people, big smile on his face.

Thank you to everyone for all your lovely & thoughtful responses!
I'm very touched & know that whatever the outcome I (& Bubs) will be very well looked after.
I think because I have more or less accepted the very real chance of a baby with Downs that I can more or less relax & enjoy the next 5 months. Oh & I'll get to find out next week if we're having a boy or a girl, really can't wait to find that out.
Will keep you all posted.

Nicki xx

I have no experience in this area but just wanted to say congratulations on your pregnancy and I'm sure everything will work out well for you. x

Hi Nicki and congratulations on your pregnancy!
1 in 2 chances is still 50% or as much possibility of your baby being healthy as having Downs.
I'm 15 weeks pregnant and my baby's nuchal fold was 6.9 mm, which is probably one of the biggest I have heard of. Our chances were 1 in 4. We had CVS a few days after the 12 week scan and the results for the main chromosomal abnormalities came back negative. We are now waiting for the full report on the rest of the chromosomes, but the worst is over. I know exactly how you feel and the only hope I had was that the nuchal fold tests are quite new and they still don't know the full story why the fold is sometimes bigger than normal. If my baby with 6.9 mm fold turn out not to have Downs, you with 3.7 mm might be just fine. If it comes to the worst at least you will have enough time to prepare yourself in advance.
Good luck Nicki and let us know how it goes on tomorrow.

x

Hi Nicki! I am sorry I don't have any advice, however, I want to extend my prayer for and wish you the best of luck!

Thanks again girls!

2x2 - Congratulations on gettting the all clear, what a relief! That is a high nuchal fold for your baby but I've read lots of stories with similiar endings... Did you have any other soft markers show up?

I think my 1 in 2 is partly due to age but am being slightly pessamistic of an all clear result as everyone else is at the hospital! So although my nuchal was just a bit higher than normal my bloods were out & there were a few other soft markers to bear in mind. So I'll be thrilled to get the all clear but am prepared not to too. Heard bubs heart beating away again today & just can't wait to meet him/her now! My results will be in a week tomorrow...

Hi Nikki, i'm sorry i dont have any advice for you, i can't imagine what you are going through but i do know one thing, that every child is a gift from god and how very lucky you are to be expecting one.

Let us know how you are getting on x

Nicki -just remember 1:2 is only a 50% chance which means 50 out of 100 babies would not have Downs. I had a 1:12 risk and always preferred to look at the figures the other way. I was lucky and DD is fine - hope you are too.x