Thursday, September 27, 2012

Genetic Counseling

We had our appointment with the genetic counselor, and it went well, I guess. Would have been better if she said it was a big mistake and we were low risk! :) We did confirm that our risk level is 1 in 61 based on my hCG (90th percentile) and PAPP-A (1st percentile) combined in part with the u/s screening done last week. I'll try not to make this too long but want to give the details.

Basically, a relatively high hCG and relatively low PAPP-A shows something could be off, but everything could very well be fine too. There have been studies that show that people who have conceived via IVF have more falsely elevated risk than the average population. And, although they don't think the demised twin (baby B) would make the numbers different three weeks after his or her heart stopped beating, that is also a possibility. They don't really know.

My hCG has been on the higher end all along, so again, in and of itself, it's not a concern. Combined with the relatively low PAPP-A (a protein produced by the placenta) is where the risk comes in. The genetic counselor was very reassuring that based on our family history, the u/s and clear presence of a nasal bone and very good nuchal measurement, she thought we were not as high risk as the numbers present. However, babies are born with Down syndrome with no signs of anything being wrong in the u/s (or in any other pre-screenings for that matter).

Bottom line is, we are still more likely to have a baby with a typical chromosomal structure. There is a relatively new blood test (Harmony test or MaterniT21) that fragments the DNA and compares the number of copies of the 21 chromosome versus other chromosomes. They use my blood, which has my DNA and small amounts of the baby's DNA that has crossed the placenta into my blood stream. If it shows a lot more copies of the 21 chromosome compared to other chromosomes, then there is a very high likelihood that the baby has DS. We had that done today (the Harmony one though they are the same thing) and expect results in 1-2 weeks. This is still considered a screening test, but the results are 99% accurate compared with diagnosis. However, there's a chance it can come back with a low level of confidence or that for one reason or another, we won't even get a result. I just pray that we get a clear indication one way or another.

Make no mistake, this baby is already so loved and an extra chromosome won't change that.  I don't think any parent out there would ever say they want their child to have DS, and we certainly hope that s(he) does not, but either way, nothing changes.

So, that's really it for today. More waiting... we're experts at that.  Thank you for your comments and prayers.

1 comment:

Lisa said...

If you don't already read Kelle's blog, you may want to check it out Her second daughter has DS, and she shares quite a bit of information about it on her blog and recently published a book, Bloom. I haven't read it yet but all the reviews are great. Just thought it might be a good resource if you're wanting to know other parents' experiences with DS.