My 8yr old has DMD (duplications of exons 46-60) my carrier testing was negative. I am currently 15 wks pregnant and have learned that there is a 15-20% chance that this fetus could have DMD due to germline mutation or mutated eggs. Two ultrasounds have confirmed it is a boy and the perinatal clinic is hitting a wall in finding a lab to do the testing since I am not a carrier. Anyone have any info?

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Are you talking about doing an amniocentesis? I would think that would be your choice, pending your insurance situation. There is definately at 15% chance of us (those who are not carriers) having mutated eggs. We are going through pgd/ivf right now. It took a while for someone to give us the true percentages of passing this on even though I am not a carrier. Good luck.
Jessica
Yes an amniocentesis. It has not been an issue of doing the test...my perinatologist is ready to do the test. The issue is finding a lab to do the testing. Baylor is no longer certified and Emory they say only do the testing if the mother is a carrier. The perinatal clinic is trying to communicate the research that gives the 15% chance of recurrence. There is also confusion if they need Lane's blood again since his duplication was tested in a research lab and was completed in the Netherlands. Dr. Flanigans lab could not find so they sent on to another lab in the Netherlands. I'm just so frustrated took us nearly 2 yrs to confirm Lanes DX and seems things are no easier now.
Jessica- What is the pgd/ivf you mentioned?
You could have done a CVS at 11-12 weeks but since you are 15 weeks amnio would be the better choice (lower chance for miscarriage). If you talk to your son's doctor, they might be able to tell you where to send the test -- they can test for other things besides DMD (Down syndrome etc.). Since you live in KY, Ohio State does this kind of testing (for DMD through CVS or amnio), you are not too far but I am sure that you can find a lab closer.

Ofelia
In-vitro fertilization with pre-implantation genetic diagnosis.


Amy Kendrick said:
Jessica- What is the pgd/ivf you mentioned?
When I fell pregnant with my 3rd child we arranged a CVS (I am not a carrier but we did it for the same reason you are), and we actually arranged to send the sample back to where James's tests were done. Since they already had a copy of the exact mutation James has, it just made things easier. This meant we had to have the CVS done here in Singapore and had to arrange for our test to be sent to Australia. It was going to be very expensive, but in our opinion it HAD to be done. In the end though, we found out it was a girl and did not have to have further testing.

Good luck, I hope it all turns out fine!
I never intended to have any more children...I was on birthcontrol. This was a huge surprise...you could say. When you say ivf..does that mean the eggs are tested before implanted?

The other issue is my husband is not certain if he wants to continue the pregnancy if positive. I have mixed emotions...not sure I could live with myself if I terminated.
Yes, the embryos are tested and only the ones w/o a DMD mutation (or other genetic problem) are implanted.
One would think that this might also decrease the chance of miscarriage, but it doesn't always happen.

One important information one learns in the IVF/PGD process is what percent of the eggs carry the mutation (as we all know there is no test for that!). That percent seems to vary greatly, there are women on this site who went through IVF/PGD, you could search the old message boards. If I remember correctly, in one case 70% of her eggs did carry the DMD mutation and she was not a DNA carrier.

http://www.givf.com/pgd/whatispgd.cfm


Amy Kendrick said:
I never intended to have any more children...I was on birthcontrol. This was a huge surprise...you could say. When you say ivf..does that mean the eggs are tested before implanted?

The other issue is my husband is not certain if he wants to continue the pregnancy if positive. I have mixed emotions...not sure I could live with myself if I terminated.
Well looks like we have no choice. My insurance will not pay for the prenatal testing. We will just have to deal with whatever the outcome maybe. In some way a relief at least now I don't have to decide to continue or terminate the pregnancy! I think I know that I could not have ended it. I'm just so frustrated however of the ignorance when it comes to DMD.
So will the insurance cover the testing for your son in about 25 weeks to see if he has dmd?
I just went to a fertility clinic today to discuss PGD. It is going to cost approx. $25,000. Thats a lot of money. Im so confused on what to do. We have 1 son with MD (dont know yet if it is DMD or BMD) and 1 son that is ok. Im not a carrier but I am so scared about my other eggs. We might go the old "natural" way and pray for the best but it is so scary. Can I get some other opinions?

If I was already pregnant, I would see no reason to do the amnio testing unless I was going to terminate.
Any lab should do the testing. Be vigilant! Gretchen

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