newbie asking for help with trisomy 21 results.

hi everyone.. i am only new here, just joined today.
I am currently pregnant with my 3rd child.. I am turning 40 this year and my youngest child is 14 so there is a large gap there,
i recently did my scan and blood tests for ds.
the doctor told me today that my chances are 1 in 64
he is wanting me to do a amniocentesis.
I am very scared.. i will be talking to the specialist in detail before any decisions..

Please help me.. it has been 15 years since i was pregnant and did not have to do all this..
anyone who has had the tests etc or any advice for a mum who is freaking out
thank you everyone..

jo

hi jo, welcome to BB.
i dont have any advice im sorry but couldnt not reply.
did u have the amniocentesis? a lot of the time ppl get a high risk in the bloods and scans then have the amniocentesis and it comes back showing u are actually low risk.
hope everything turns out ok!!

with the scan that you've had, your "risk" of a child with downs syndrome, or another trisomy, are automatically increased based on your age. they combine a few results together - the thickness of the fold of skin at the babies neck, a couple of different hormones, take into account oyur age, and come up with the risk factor you've been given

a result of 1 in 64 means basically if they lined up 64 pregnant women with the same results as you, they would expect to see one child born with Downs - the other 63 would have a genetically fine baby

what you do with this information is entirely up to you. you can take on board that you have a slightly elevated risk of having a baby with a problem, and go with the "we'll see when it arrives" attitude, or you can opt to have further testing. this is a decision ONLY you and your partner can make. many take the view that it is only worth having the additional testing if you would terminate the pregnancy should a problem show up. others will see that they NEED to know either way - if a trisomy shows up, it means they can prepare for a child that will have additional needs when it arrives. it is entirely up to the two of you what you choose to do here. don't allow anyone to pressure you one way or the other

as to what happens physically with the amnio - i didn't have to go through this so i can't say myself. i know it gives a slightly higher chance of something going wrong (later term miscarriage etc), so that is something else to keep in mind. there are BB members who've had higher risks (one was 1 in 2!) - she had the amnio and it came back clear - she now has a gorgeous little boy

good luck with whatever you decide to do here - you will have support whatever you do

BG

thanks for the replys girls..
well i have amnio next thursday, my partner and i decided to go ahead with the test.
the thing is i am the biggest worrier and i could not stop stressing, i have a mate who took her friend in for one a few months back and she said they were very professional and all was fine..
i am nervous but i know all will be fine, bubby is very strong, can feel movements already constantly,
i have a strong feeling i am having a girl..:)
xx jo

Hi Jo

just want to wish you all the best with your amnio, I'm sure everything will be fine.

I have never had one, however, I do have a 22 month old nephew with Down Syndrome. What's odd about this is he was not diagnosed until he was almost 12 months old! During pregnancy the risk factor was something like 1:18,000 so no further testing was done. It just goes to show that the numbers don't really tell you too much so try not to stress. My nephew is only mildly affected by DS and is an absolute joy. They are now expecting their second baby and had to have an amnio done which was all fine - the test itself was not as scary as they thought and the results good.

The amnio will give you more information and as others have said will allow you to decide what you then want to do, it is totally up to you. I know it's a scary time but try to stay positive chances are all will be fine.

Thinking of you,
Fi

hi fi..
thanks for the wishes..
and wow that is amazing about your nephew, the risk factor !! bet he is just adorable and full of fun.

glad to hear the test is not as scary as i am imagining. i have been reading alot about it and all comments say it isnt as bad as they make out.
i will have my partner and best friend with me so they give me heaps of support.
i have read that they can tell the sex of a baby definately as well. so that is a bonus . as we really want to know.
i have absolutely nothing ready for the baby since it has been 15 years since last pregnancy lol
i am getting more and more excited though..

by the way i love your daughters name. so pretty..

thanks again
jo

Hi Jo,

I had a cvs, which is similar to an amnio, just earlier and they test the placenta not the amniotic fluid. We saw a genetic counsellor first, then had the test a few days later. My risk factor for D.S was 1 in 19 so pretty high. Te proceedure itself was ok. It is a bit daunting but what the do is numb your tummy with a local (so lots of little pin *****s). Then with the use of the ultrasound machine they guide a needle into your tummy and take a sample. The needle is big but you cant feel it. If I remember rightly it didnt take long to do this at all. Maybe 30 minutes...sorry it was 3.5 years ago! I found that sitting up from the proceedure hurt like I had done thousands of sit ups without practice! I rested for about 2 days and my tummy felt much better. We opted to get the FISH results which test the major markers and you get an initial results in about 2 or 3 days and the following results about 2 weeks later. You do get to find out gender 100%
Ho[pe that helps. All the best and if you need to know any more just ask...sorry its late and cant think straight!
Cheers melissa

wishing you luck for tomorrow Jo! Hope all goes well

Fi x

Hope all goes well tomorrow, I have had an amnio done and for me it was not painful just a little uncomfortable. Will be praying that the results show all is well with your baby.

Regards,
Dianne

Good luck for today :hug:

hey everyone.. thanks so much for all the messages and thoughts..
well yesterday was the amnio.. i know people have said it wasnt that painful.. but i seriously was in pain.. the doc said i was contracting?? not sure what he was meaning but i hated it.. glad it is over..
i had some light cramping last nite but seems fine today.. no bad side effects..
they will ring me tuesday with a brief summary.. basically if bad or good and the sex.. wooot..
so i will update as soon as i find out..

was so amazing to see my baby on the screen again.. i get so emotional when i see it..
i just cant wait to meet this little bundle..

jo

All the best today with your results. Hope everything goes well and your recovery was quick. I know its a very tense time waiting.

Any news hun?

Been thinking of you, hope you get good results.

Regards,
Dianne

hey everyone.. well great news.. hospital rang today and all is FINE :)
No downsyndrome and guess what??
I am having a boy... there goes my girl theory.. lol

thanks for all the wishes ..
x jo

Fantastic hun! Little boys are the best :D All the best for the rest of the pregnancy

thats awesome news jo!! so happy for u! heres to a happy and healthy rest of pg!!!

Congratulations. All the best for the remainder of your pregnancy