URGENT - Down Syndrome Risk

gori · Post by **gori** » Tue Feb 26, 2008 4:40 pm

Hello everyone! I just turned 14 weeks today & got a call from my gynae. Unfortunately, it's not good news. My blood/hormonal tests show a 1 in 46 chance of Down syndrome. I have no family history of down syndrome, my first child thru normal preg, is also perfectly fine. I just turned 35 [not too far from the cut off], plus my NT screening was all good. Even after all these +ves, my blood result of 1 in 46 is certainly a very high chance [should have been 1 in 180]. So my gynae recommended amnio. I had anyway scheduled an amnio, given that this is an ICSI and my HCG levels were quite high in the beginning of the pregnancy. I have been really stressed since I heard this, but I cannot do anything but wait. Amnio is another 2 weeks away and the results will be available in 1-2 weeks after that. So overall, a 4 week wait. I know some times there are false positives, however, since all my other factors were so good/positive, I cannot help but think that my hormone levels are indicating something bad! Any positive stories with a similar background as mine, would be much appreciated

beth · Post by **beth** » Tue Feb 26, 2008 10:30 pm

Hi Gori,
The same exact thing happened to me!!
I think my OB said I had a 1 in 30 chance of having a baby with downs, and I was a mess!
I had the amnio, and was worried sick about it, but everything came out fine. DD was born perfectly normal!
I guess, you have to decide what you would do if your amnio came back positive, whether or not you would continue your pregnancy...if you would, than maybe don't take the risk of the amnio.

I asked the OB and the genetic couselor if my results could have been influenced by the IVF meds, and they both said, 'maybe.'

Just relax, that's the best thing you can do for yourself. Keep yourself busy to take your mind off of it. It is really out of your control!
Good luck
and please post what you decide to do and your results....my thoughts are with you!

beth

gori · Post by **gori** » Wed Feb 27, 2008 2:23 am

Hi Beth, your response means a lot to me. It is very reassuring!! I certainly want to do the amnio though. Of-course through this whole process, I am hoping & praying that amnio results are in my favor and that it does not cause a m/c. What all we have to go thru......... It's not even been 10 hrs since I heard the news, I am not sure how to survive 4 weeks!! Do you have any idea why your risk/chances were high? Did you have high HCG levels earlier on in the pregnancy? Any family history etc, if you don't mind sharing? NT screening issues? Any other tips would be great. You can imagine how hard it is to put your mind at ease unless you know everything is ok with the baby. And, congrats to you... touchwood, everything was fine for you!

beth · Post by **beth** » Thu Feb 28, 2008 6:04 pm

Hey Gori
Try to stay calm about it, I know it seems impossible.
I have no idea why my risks were so high.
And I really don't know what my HCG levels were. Neither Dr. would say that the IVF caused a high positive risk, they just said it's a possibility. Apparently, there haven't been enough studies done.
I had no family history of Downs either.
NT screening was fine, which is why I was so surprised.

I hope you can take it easy, that's the best thing for you and your little bean. Best of luck to you, I hope it all turns out for the best!

beth

kristiA · Post by **kristiA** » Thu Feb 28, 2008 8:12 pm

Hi Gori. I haven't talked to you in a while. I'm really sorry to hear you are going through this scary time. I remember how tormenting the decision to do an amnio or CVS or neither was for me. And that doesn't even compare to what you are going through, so I can certainly can understand that this is hard for you.

You do hear often about the "false positives" like you mentioned & like what happened to Beth, so maybe that will be the case for you as well. I'll keep you in my thoughts over the next 4 weeks!

gori · Post by **gori** » Fri Feb 29, 2008 2:32 am

Thanks Kristi & Beth, will keep you guys posted!!

Welshgirl38 · Post by **Welshgirl38** » Fri Feb 29, 2008 4:49 pm

Hi,

I dont mean to butt in, and I dont have any anwsers to ur questions, as i have never had the test done. I know this must be really scarey for u right now, and its easy for us to sit here and say 'relax' dont worry etc!

Can i ask you - would it make a difference to u if ur child was Downs? I know thats a really difficult question for many people and i dont expect u to anwser it if you do not wish to do so, there are lots of reasons why it would make a difference, and a lot of reasons why it shouldnt.

I'm not speaking from experience of living with a child with downs, but i do know of someone who does, and i also know of a family who's child was born with many many problems, but faced them head on and are stronger for it ... i read this once, it was sent to me by a woman who had given birth to a child with disabilities, and should i ever be faced with what u are going thru now, i will always revert back to this story:

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

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 out 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....and 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 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.

I sincerly hope that u will never have to get on that flight to Holland - but if you do, as the story goes - it can be as wonderful as Italy ...

Please let us know how your tests pan out, i would love to hear about your results - i do wish you luck, and every happiness with your family

Becky Xxx

P.S Under no circumstances have i tried to offend anyone reading this post, i did not set out to do that - i just wanted to share with you this (what i think is) wonderful story that always sticks in my mind ... xxx

deepa100 · Post by **deepa100** » Sat Mar 01, 2008 11:53 pm

Welshgirl38 wrote:Hi,

I dont mean to butt in, and I dont have any anwsers to ur questions, as i have never had the test done. I know this must be really scarey for u right now, and its easy for us to sit here and say 'relax' dont worry etc!

Can i ask you - would it make a difference to u if ur child was Downs? I know thats a really difficult question for many people and i dont expect u to anwser it if you do not wish to do so, there are lots of reasons why it would make a difference, and a lot of reasons why it shouldnt.

I'm not speaking from experience of living with a child with downs, but i do know of someone who does, and i also know of a family who's child was born with many many problems, but faced them head on and are stronger for it ... i read this once, it was sent to me by a woman who had given birth to a child with disabilities, and should i ever be faced with what u are going thru now, i will always revert back to this story:

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

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 out 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....and 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 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.

I sincerly hope that u will never have to get on that flight to Holland - but if you do, as the story goes - it can be as wonderful as Italy ...

Please let us know how your tests pan out, i would love to hear about your results - i do wish you luck, and every happiness with your family

Becky Xxx

P.S Under no circumstances have i tried to offend anyone reading this post, i did not set out to do that - i just wanted to share with you this (what i think is) wonderful story that always sticks in my mind ... xxx

What a great post!

deepa100 · Post by **deepa100** » Sun Mar 02, 2008 1:25 am

Welshgirl38 wrote:Hi,

I dont mean to butt in, and I dont have any anwsers to ur questions, as i have never had the test done. I know this must be really scarey for u right now, and its easy for us to sit here and say 'relax' dont worry etc!

Can i ask you - would it make a difference to u if ur child was Downs? I know thats a really difficult question for many people and i dont expect u to anwser it if you do not wish to do so, there are lots of reasons why it would make a difference, and a lot of reasons why it shouldnt.

I'm not speaking from experience of living with a child with downs, but i do know of someone who does, and i also know of a family who's child was born with many many problems, but faced them head on and are stronger for it ... i read this once, it was sent to me by a woman who had given birth to a child with disabilities, and should i ever be faced with what u are going thru now, i will always revert back to this story:

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

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 out 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....and 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 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.

I sincerly hope that u will never have to get on that flight to Holland - but if you do, as the story goes - it can be as wonderful as Italy ...

Please let us know how your tests pan out, i would love to hear about your results - i do wish you luck, and every happiness with your family

Becky Xxx

P.S Under no circumstances have i tried to offend anyone reading this post, i did not set out to do that - i just wanted to share with you this (what i think is) wonderful story that always sticks in my mind ... xxx

What a great post!

gori · Post by **gori** » Sun Mar 02, 2008 8:07 pm

Becky, it is indeed a wonderful story!! I can only say that what you are saying makes a lot of sense, however, it's practical and manageable for some, yet really really difficult for the others to handle. Every child is special & needs to be loved & cared for, no-one can deny that. But as parents, we have the honor & privilege of having to worry about them when we are alive, & even after our own life is over, we want to make sure they are independent and doing well in life. And that worries some of of us more than the others, as our personalities are different & our capability to cope with matters/issues at hand, are different. At this stage, all I can say is that I sincerely hope everything happens for the Best!

gori · Post by **gori** » Tue Mar 18, 2008 7:29 pm

Anyone reading this post & looking for some answers on Down Syndrome, high risk pregnancy: here is an update. I got my Amniocentesis done last week. I got my Amnio FISH results today. This is a shorter version of the full amnio & takes less time [usually 24-48 hrs but mine got a bit delayed as they did not have the updated form]. While I am anxiously awaiting my full Amnio results, this one [FISH] has come back with good news - no issues with Down or anything. And it's a GIRL!!! So now, I can relax just a bit and wait for another week for the full amnio result.

JustinesBaby · Post by **JustinesBaby** » Tue Mar 18, 2008 9:31 pm

deepa100 · Post by **deepa100** » Wed Mar 19, 2008 4:14 pm

Hey there,
Congrats, I am happy for you!

gori · Post by **gori** » Tue Mar 25, 2008 1:57 pm

Hi girls, one final update on Amnio. My final results came in & everything is good!! Yippee!! While I am happy with Amnio, my HCG is still high & doctors have said it's a high risk pregnancy still. I am posting this as sometimes people don't remember to close the loop on a certain topic. If someone is looking for some re-assurance, I hope this case provides some.
Baby dust to all!!

riogirl71 · Post by **riogirl71** » Mon Apr 07, 2008 8:41 pm

Gori - congratulations again on a healthy girl and I am so glad everything worked out great for you! Enjoy your pregnancy!

URGENT - Down Syndrome Risk

URGENT - Down Syndrome Risk

Thanks

Thanks

Hi

Hi

Hi

Advertisements