Know About Genetic Counseling at Genetics & IVF Institute?

pixieprincss

I got a positive on my AFP blood test result (which was a retest from a positive last week) so we are being referred to a genetic counselor at Genetics & IVF Institute to help us understand the odds of a problem and to weigh the benefits of an amnio versus staying non-invasive (just a Level 2 u/s is our inclination at this point).

If anyone has been through this, I am curious about the family history portion. We had to give lengthy paperwork to our RE and then again to my OB about parents, grandparents, and then a space for any other family members with major problems (DH has a sibling with a rare chromosomal issue). I am wondering if we need to get family histories for DH and my aunts and uncles, too.

tracy042206

We had something similar but not the same and we were at an RE in MD.  Molly had a high measurement on her NT scan and one of my proteins came back high.  This gave us a 1 in 25 chance of Down Syndrome.  When we saw the genetic counselor she basically explained the chances and the testing.  She gave us the risks and what we would and would not find out from the testing.  I don't know that they took a very extensive family history.

For us we chose to get an amnio so we could be prepared for anything that might be wrong.  For us the amnio came back negative for any large genetic anomalies.  Then we got a fetal echo cardiogram to check for any heart problems since our results sometimes indicate heart problems if there are no genetic problems.  Of course something could still have been wrong that they couldn't see with the amnio tests but in our case we were the 24 out of 25 who have healthy babies with those same test results.

Sonadora

I went there for my NT scan and bloodwork. It came back with elevated risks for DS, 1 in 27 to be exact. The genetic counselor, similar to PP, just talked with us about what that meant and went over our options as far as amnio, CVS, Level II u/s, etc. I don't recall them asking for a family history at all there as it's really kind of moot given the fact my bloodwork came back with elevated AFP.

They asked a couple more questions at the MFM place where I went for the Level II, but again, nothing more than immediate family. We decided to base the amnio decision on the results from the Level II. The Level II showed elevated fluid around baby's kidneys, but no other markers and our recalculated risks were significantly less, so we decided to forgo it.

Good luck!