I have to ditto on Dr Rosenbaum. He is my DS' geneticist. We have been seeing him since I was preggo and my amnio came back with a chromosomal abnormality. He has a great bedside manner and is extremely knowledgeable (and well respected in the field). My DS is now 5 and the journey has been less stressful being in his care.

Thanks for that opinion, 22:18. That was sort of what I was thinking. We did finally get an appt with a genetic counselor.

As someone who works in genetics I just want to chime in and say the PPs who posted are absolutely giving you correct information (great job ladies!). Gonadal mosaicism is not common, but is definitely a small possibility. More likely with some disorders than others, probably less with a sporadic deletion/duplication on micoarray. My personal opinion is that if you and your husband tested normal, I think the risk is low enough to get pregnant naturally and spare yourself the time/frustration/cost of IVF with PGD and just test with cvs or amnio once you are pregnant.

Thanks so much PPs--this is a lot more than I knew yesterday. I also knew of Rosenbaum (DC is not his patient) but I hadn't thought of seeing him for this. Just have to decide how risk averse I am.

Yes gonadal mosaicism is a possibility for your possible DC2. Our DD1 has Rett Syndrome (RS) 99.5% of the time it is caused by a spontaneous mutation carried by a single sperm and the general population occurrence is 1 in 10,000 to 15,000 live female births (x chromosome linked mutation so only girls have Rett, of course there are a few boys out there too who somehow have it also) The other .5% of the time it is caused by a problem with the Mother's eggs (all or some) or a greater percentage of the Father's sperm carries the mutation, or gonadal mosaicism, I medical terms. I have since had a healthy DD and we were tested for RS with a sample through the CVS at 11 weeks, got the results back at 12.5 weeks. We also had a microarray to look for any other possible syndromes or disorders.
Of course you can't test for everything--but it certainly made it a bit easier to go through the pregnancy knowing as much as possible. While I would have done PGD if we were doing IVF we weren't so I was prepared to make any difficult decisions beforehand concerning what types of results can turn up.

Also highly recommend Dr Kenneth Rosebaum at Children's for a consultation before you decide on trying again. He is extremely knowledgeable and really cares about his patients.

Good luck to you, for what it's worth I am so glad we decided to go ahead and have another child, it has absolutely been the best thing for our family!

Anonymous wrote:This genetic counselor is either (1) covering her ass if you decide to sue in the extraordinarily unlikely event of a second spontaneous genetic defect or (2) incredibly doom and gloom.

I would see someone who can talk to you like a person. The odds of this happening again are pretty astronomical. If you don't have a familial trait, you are pretty much in the clear.

Yes, genetic defects do not show up in a CVS/amnio. Neither do things like autism, cerebral palsy, stroke, or many other disabilities.

Patently untrue. It is absolutely possible to have the same genetic problem twice even with neither parent having it. Called "gonadal mosaicism" I think - one parent has the mutation just in their eggs or sperm, but not in bloodstream. Apparently very common with the most common type of muscular dystrophy, and with some bone diseases. Chances in this case are certainly low, but it would be silly to say zero.

Is your geneticist Dr. Lichter-Konecki? We saw her and she said given my child's chromosome irregularity it is amazing that my child is not just a vegetable. My child has some issues, but looks and acts like a regular little 5 year old.

I found her alarmist. Either her or her assistant (at the time) said also that the chromosome duplication our (foreign adopted) child has could have come from incest.... what? it could be in passed on from a parent or arise spontaneously and she decides to make that comment!

I think we must have the same genetic counselor! We are in exactly the same situation (DD w/ genetic disorder that is de novo, and also that can only be picked up on microarray). Our counselor told us the same thing, but couched it as an extremely rare occurrence and she said she was only telling us b/c she'd thought it never possible until she worked with a family where it actually happened. I don't know what ART is, but she said if we were so worried about the possibility of recurrence, we could do pre-implantation diagnosis or something like that (where you do IVF and they take one cell from embryo). Given that our DD's issue is de novo and the chance of recurrence is so rare, I don't think we will take that step.

However, she did tell us that although a typical CVS or amnio is more like a karotype test (looking for whole extra or missing chromosomes), because we know exactly what DD's deletion is, we can get a microarray done through CVS or amnio to look for DD's specific deletion in a second child. I hope that brings some comfort to you, because it definitely did to us. We also chose to do the saliva genetic test that screens for common genes to determine if we're carriers for other common genetic disorders like cystic fibrosis. That brought some degree of comfort.

Even though I know there are many things we can do to control risk (doing the saliva test, doing CVS to test for major issues and for DD's specific issue, eating right during pregnancy), I know that if we decide to have a second, there will be a bit of a leap of faith, b/c as PP said, you can't test for things like autism. It's scary and I have no idea yet whether we'll jump in the pool or not! Good luck.

This genetic counselor is either (1) covering her ass if you decide to sue in the extraordinarily unlikely event of a second spontaneous genetic defect or (2) incredibly doom and gloom.

I would see someone who can talk to you like a person. The odds of this happening again are pretty astronomical. If you don't have a familial trait, you are pretty much in the clear.

Yes, genetic defects do not show up in a CVS/amnio. Neither do things like autism, cerebral palsy, stroke, or many other disabilities.

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?