Really need advice and opinions

[gina1978]

As some of you know my screening test came back positive for down syndrome.My chances are 1 in 127.I'm not sure what that really means so if anyone can tell me I would appreciate it.Next friday I am getting the amniocentesis but i'm really scared about it.If you were in my posistion or even if your not please give me some advice on whaT to do.I know the decision is mine but I need advice and opinions and maybe other people's experience with the test.I'm actually having nightmares about this.Please help

[martikadragoon]

Gina~ by 1 127 it means that you have just under a 1% chance. DO NOT LET MY REPLY SCARE YOU, YOU NEED TO KNOW WHAT YOU MIGHT BE IN FOR!

Going by age, the percentage grows. For example, if your between 20-25 your chance is roughly 1: 1000 for a baby with DS, once you hit 30 I think it's 1:500 and 35 and up is 1:300 or so and then decreases as age goes....
I never had the screening because I had an amnio done to find out if my baby boy had my skin problem...
It came back POSITIVE for down syndrome along with the skin problem too. I"m 22 years old and so is my husband. My original chance was 1:1000
.
Here's what I'd suggest:

Have you had any bleeding during this pregnancy?

Have you had any contractions?

If the answer is NO then I suggest you GO AHEAD AND GET AN AMNIO, if only for your peace of mind.

What you'l have to do is rest for 24 hrs after your amnio and stay off your feet. That's it. I had  NO complications, preterm labor or anything after my amnio, All I delt with was a bit of cramping.

Here are some stats on Down syndrome; Down syndrome is also known as Trisome 21 where there are 3 copies of the #21 chromosome.  there are other genetic conditions where there are 3 copies of a chromosome...

T18 is Deadly and babies do not survive it. It's MUCH worse than T21
There are 3 types of Down Syndrome:

1- Typical T21
2- Misaic where some of the cells show T21 and others are normal. This kind is thought to be less severe with less health and mental affects
3- Translocation.  a piece of an extra #21 chromosome is attached to another chromosome (for example #14) . In order for a baby to have a translocation a parent has to have that same translocation.  It is possible for a parent to have the translocation and NOT have down syndrome.  With Translocation there's a %25 chance of having a baby with DS


There ARE Health problems associated with it:

1% chance of childhood lukemia
%60 have vision problems of some sort
%40 have congenital heart issues
%12 have intestinal problems requiring surgery
%75 have some hearing problems
%?? Throid problems~ Many kids with DS tend to have thyroid problems.

Infections: Kids with DS tend to be more susceptible to infections, hearing infections and others
~~~~~~~~~~~~~~~~~~~~~~~~~~~
My baby boy TJ is one of the more rare ones that have delt with most of these issues. he's got hearing problems. I speak sign language and hubby is learning it so it's not a huge issue.
He also had heart issues, and Thyroid issues. The heart problems required surgery and he got a severe infection afterwards so he spent the last 3 months in the hospital. that's all we know about right now as far as He's concerned.
~~~~~~~~~~~~~~~~~~~~~~~~~~~

Now, Just because a baby might have down syndrome, does NOT mean that they have a horrible life. The first few years are tough sure... but it gets better and these kids are the MOST loving and caring kids and grow up to be great adults.

These kids CAN:
Graduate high school
Go to college
Get married
and live semi independantly.

Just because a kid might have down syndrome does not mean they can't live full and productive lives as an adult

Here is a link to the National Association for Down Syndrome

You also probably have a DSA in your local town or a Down Syndrome Association chapter.

http://www.nads.org/  

If you need to talk, PLEASE feel free to message me and ask any questions you might have. Nothing is too personal!

Cindie

[sweetangel7]

Personally, I'd go through with the amnio.  They are much more skilled than they used to be and I think it is a fairly safe procedure.  Yes there are complications but I think they are rare.  

I would personally want to be as prepared as possible for my child's condition (finding resources, making sure I delivered at a hospital equipped for such a condition etc.)  

As far as the 1 in 127 percentage goes, I'm not a genetic counselor nor am I even familiar enough with this to even give an educated thought or statement (other than 1 in 127 is the chance your child will have ds, but I am sure you know that!) so my best advice would be to make an appointment with a genetic counselor to ask all the questions you want/need and to get a reliable, educated opinion.

Good luck!

[gina1978]

I'm not scared of the pain the test might cause just the risk of losing my baby.I just feel like  it would be better to know exactly what my husband and I are in for.
rdh1981 I am so sorry for your loss.I can't imagine how that feels.You have such a great attitude and I think your awesome :)
Linzola1 thanks so much!

Anyone else have any experience with this test?Good or bad?

[Linzola1]

I am not to sure because I have never been there, with that said I want to wish you the best of luck and I will keep you in my thoughts and prayers,

[rdh1981]

I had an amino with my son Cooper, because at his 18 week ultrasound we found out he had a very severe heart condition. The amino was not that painful. I just kept looking at the ultrasound screen while he did and it was over in less than a minute.

Sadly Baby Cooper went to heaven when he was 7 weeks old. I am now pregnant again with another boy!!! I just had my 16 week ultrasound on Wednesday and they said everything looked perfect. My doctor offered to do an amino but  I refused, because even if something did come back positive we were still going to have this baby no matter what.

If it is the amino you are afraid, put your mid to ease, it is not that bad. I am sorry you are going through this. Personally I would still be extremely thrilled with the baby in my belly no matter!  Remember any test can still have room for error.  

Good luck!