Downs Questions

Luckiest13

Did you have the genetic screening done during your pregnancy? What was your risk factor? (my quad test came back 1/63).

 Did you do an amnio? (i'm scheduled for one on Monday)

How long was it to get your results back?

I know a lot of people choose not to do the amnio. but I can't imagine going into this without knowledge then being "surprised" at birth...

mommyof4boys

Although we don't have a child with Down Syndrome we do have a child with a genetic syndrome.  We didn't want to do the quad screen because there is a high false positive rate.  We had no higher risk after doing it.  We didn't have an amnio but did have a level II u/s as there were markers on his heart.  It was a long 2.5 years later that we found out our son has something called 16p11.2 duplication.

LandoWedding

We will have our daughter with Down syndrome in late Feb or early March.  We had CVS due to an increased nuchal fold measurement at 10.5 weeks, so we had CVS at 11.5 weeks.  Ellie tested positive on that for DS, and since that was before the quad screen would have occurred, we never got the quad screen done!  (We know it has a high false positive though, so we weren't even considering it.  We just didn't want to wait it out for 29 weeks.) 

I'm glad that for this baby (she's our first) we got the testing, so we could be sad about DS and now be excited to have our baby girl.  (Our house is currently exploding in PINK!)  However, we also said that with our next kid, since we know we'll be able to handle a child with a disability, we won't get ANY testing done unless there's concerns for something that would require major preparation prior to birth.

The good thing with early detection for DS is that we are able to plan for the heart condition our Ellie has (AV canal defect - 40% of kids with DS have it.)  She'll require surgery, so it won't be a surprise.  In fact, the whole point of having CVS for us was simply not to be surprised, we never considered anything but raising our child.  

There's lots of good info on DS specifically at babycenter.com's group boards, including a pregnancy group.  I'd also check out www.downsyndromepregnancy.org.  It was just launched and has been VERY helpful to me.  

Congrats on your pregnancy, and enjoy!  We've had some ups and downs, and now we are just excited!  In some ways, I feel well prepared because I teach Special Ed, so I am well-versed in IEPs and IFSPs and SLPs and OTs and all that.  On the other hand, I also know more of the challenges!  Feel free to ask anything.... and I'd check out those sites!

LandoWedding

Oh yeah... took from a Monday at noon to Wednesday at 4:30 pm for our FISH results, which are the initial results.  That's when we learned it's a girl with DS.  I think some more information on the rarer issues takes longer.  It was maybe 11 days before we learned what KIND of DS (I forget the name, the common kind - just a random event, not translocation or mosaicism).

kchoi

just sent you a pm :0)

LandoWedding

Outsmarted by the internet... Just got home from vacation and checked the board, and realized I have NO CLUE how to check personal messages.

?

meganlandmeier @ gmail.com ?