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What is the concensus about doing the amnio test? Since the sex of my baby was confirmed as a female so the worst she can be is a carrier like me. The PGD testing is 97% accurate so it is a good bet my baby won't even be a carrier. My doc and genetic counselor say I should not do it. I am worried about the risk. I would be devasated after all I've gone through if something went wrong. There is a 1.6% chance of a microdeletion or duplication but this can happen with any pregnancy. Are we just going test crazy? I want to do the right thing but am torn. Anyone like to share their experiences with me??
Thanks!
Jen
I would like to reach out to Erica as well if anyone knows how to get a hold of her. I am also in Ohio, and am trying to start a parents group here. Please advise if anyone knows how to get a hold of her, or you can pass my e-mail along to her at thenegar2000@hotmail.com. Thank you.
Kim Maddux said:
Brody's mom is Erica or "Ric". She is in Ohio. She did do it. I did it too 3 years ago. My insurance did not pay for it either. My doctor sent a letter to our insurance. Good luck. I hope your insurance is more understanding.
fyi - My twins just turned 2 :-)
Thanks Lisa! I really appreciate your well wishes and advice. I having been leaning towards not doing the test and hearing from the women in the group has really helped me with the decision.
Hi guys - mutations that come from a deletion are more likely to be accurate with PGD that something like downs, which has a duplication. My understanding (and it may be wrong, so clarify with your geneticist is this). With downs, there are two potential issues - cellular mosaicism (where some cells have the added chromosome and some don't) and the spontaneous deletion of the duplicated chromosome in the one cell sample.
DMD doesn't have that cellular mosaicism, to my knowledge - every cell has the deletion, since it came from the original cell. Also - it would be highly unlikely, if your mutation is a deletion, for a cell to contain that deletion and then accidently grow back the particular exons that were originally deleted.
Hope that makes sense, but for me, it was enough to not go through with invasive testing like an amnio with both pregnancies.
Thanks Mindy! That sounds like some reall high level genetics. I also did PGS on the embryos before I did the PGD for DMD. My genetic counselor said that since I did all this testing that I am like a 20 year old getting pregnant ( I am 33 now). I am going to cancel my appt for the amnio, I have heard a lot more negatives than positives about that test.
Hi Jennifer,
I'm glad we were able to help you feel better about making a decision. For anyone else thinking of options it's probably worth adding that amnio (and CVS) are really pretty safe procedures but, with the testing you've already had, I would say there's really no need to take the (very small) risk in your case.
Happy, happy pregnancy! It's the BEST time.
I had my son with Duchenne at 33, I am not a carrier so it was totally unexpected. I decided to have CVS with my daughter at 35. It was a very easy procedure (fast and pain free), I was just careful when selecting my OBGYN specialized in high risk pregnancies. I would do it again w/o thinking twice, I felt so much better knowing at 11 weeks that she doesn't have Downs or trysomy or whatever. Obviously, since my son's Duchenne was such a shock I was obsessed to test as much as possible. They even tested me before pregnancy for CF and SMA carrier status just to rule out whatever possible -- I am not a carrier of any of them.
Jennifer Bauer said:
Thanks Mindy! That sounds like some reall high level genetics. I also did PGS on the embryos before I did the PGD for DMD. My genetic counselor said that since I did all this testing that I am like a 20 year old getting pregnant ( I am 33 now). I am going to cancel my appt for the amnio, I have heard a lot more negatives than positives about that test.
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