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Joined Mar. 28, 2012 9:44am

Quartz3's Pregnancy

My Due Date: May 30, 2015
I have given birth!
Age: 36 years old
Location: Canada

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Meeting with Genetic Counselor
By Quartz3 » Posted Nov. 19, 2014 11:01am - 51 views - 0 comments

So my doctor referred us to Genetics this time around - again - just to see if our odds were changed by the fact that we had a normal baby and what the plan should be for this pregnancy. The answer was the no, our odds did not change, just as we thought. So we're gonna go the same route we did with my last pregnancy - that is, Level 2 ultrasound at 18-20 weeks, followed by a fetal MRI a couple of weeks later.

The interesting part of this meeting was when the Genetic Counselor mentioned that there was now a new technology that would be interesting for us. You see, the results of the autopsy for baby 1 pointed to, possibly, a genetic ciliopathy, but that could not be confirmed by any test, because there are over 30 genes that cause ciliopathies (and that's only those we know about right now), and it cost $2,000 to test for each gene. Obviously it wasn't an option two years ago. Now, they have this thing called Next Generation Sequencing which allows for testing of numerous genes at the same time. The problem is, however, that this costs $5,000 and can take up to two months. In our case, in two months, we'll have had the NT scan and the Level 2 Ultrasound, so we should have a pretty definite idea of how healthy this baby is. Seeing as the NGS would not allow for Genetics to provide us with a prenatal diagnostic, it would most likely be refused if they were to request it. However, if this pregnancy turned out not to be viable, or if we were to think of a third baby, NGS would be an option. I think that's pretty amazing.

The Genetic Counselor insisted they were still of the opinion our risk was only 1-2%, and not the 25% I like to rely on for self-protection purposes. She will ask my doctor to refer me for the Level 2 Ultrasound and she will request the MRI.

Other than that, tomorrow is the NT scan, and now that it's so close, I really don't want to go anymore. Or actually, I want it to be over. I want to be out of there.

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