ART when your DC1 has a spontaneous genetic issue

[Anonymous]

I posted this on the SN forum--looking for any input, thanks.

Our DC has a genetic issue that appears to be a spontaneous chromosomal variant. Neither DH nor I have it. However in passing DC's genetic counselor at Children's said we should not assume that the problem would not show up a second time. In fact, she cited another family she worked with in our same situation that had a second child who turned out to have the same problem as their DC1. Still trying to figure out how this could happen--damaged eggs maybe? I've been trying to get an appt with a genetic counselor and failing to get my calls returned. Anyone here go down this road? If we don't want to risk a second kid with this issue that means IVF and ART, big money and less fun. Our child's issue can only be determined by microarray, that means that amnio and cvs would not be able to detect it, right?

[Anonymous]

You can absolutely have a microarray done with samples from a CVS or Amnio. I have had two microarrays done while pregnant with CVS samples. I had my CVS at Georgetown and Signature Genomics performed the labs.

[Anonymous]

True, but if you have a CVS then you are already dealing with an in-progress pregnancy. At that point, you're in the terrible position of deciding whether to abort or not. Not a good place to be.

We did IVF/PGD (genetic testing) for multiple miscarriages and discovered that all our embryos had profound genetic defects (all incompatible with life). It was enormously helpful to know that before we got pregnant. Now we're doing donor egg and we're still going to do PGD because some of the problems in the last set of embryos were caused by sperm. Sure, you can't test for things like autism, but it is nice to be able to eliminate identifiable problems.

Seems to me that it would make sense to at least have this conversation with several genetic counselors (worth it to get a couple of opinions since it's so expensive).

[Anonymous]

Have you tried to get an appointment at Childrens? We saw Dr. Rosenbaum, who is extremely highly regarded. We were working on DC #2 when we made the appointment and once I explained my concerns related to DC1 and timing they worked me in very quickly. His nurse also responds quickly via email so you may be able to get some information that way while waiting for an appointment. He did recommend we do PGD, but we have to use IVF to get pregnant anyway due to unexplained fertility.

[Anonymous]

What the genetic counselor probably meant was that even though it appears to have been a sporadic event with DC1's problem, then can't say for sure. If they tested you and your DH to make sure you don't carry the something similar, then it's extremely unlikely you'd have another baby with it. The reason the risk wouldn't be zero is because there is a very small chance for gonadal aka germ-line mosacism. This means that all the cells in your body are normal, but there could be a mutation in what were the precursor cells to sperm or egg so that only egg or sperm would carry the mutation. So if they tested your blood and it was normal, they can't rule out that egg or sperm could carry the mutation. This is an extremely rare, though well documented, occurence. So odds are you are at low risk, but you can do PGD with any future pregnancies to be even more sure if you wanted. Since you are at a low risk though, getting pregnant naturally would probably be fine if you don't want to go through IVF/PGD and you could test as early as 10 wks with the CVS.

[Anonymous]

Thanks so much PPs--this is a lot more than I knew yesterday. I will look into seeing Rosenbaum.