Abnormal chromosome 2…..CVS results - long

[Dublin]

Abnormal chromosome 2…..

I’m 12 weeks pg and just got the results of my CVS test. Dr said that chromosome 2 is “mosaic” meaning it has normal and abnormal characteristics. Dr. also said that usually with an abnormal chromosome 2 the baby wouldn’t have made it this far and I would have miscarried. I asked if the progesterone that I was on was keeping the pregnancy alive and if I stopped then would I miscarry. Doc said no as it doesn’t matter how much progesterone supplements you are taking if the embryo is not strong enough to make it then it won’t make it.

Doc also said that 80% of these test results (both normal and abnormal chromosome 2) will test to find out the baby is normal. Only an amnio will tell for sure. Dr. said that possibly the placenta had the “abnormal” cells and the baby had the “normal” cells and everything is okay. This is the 80% that he is talking about and the best case scenario.

I asked what happens if the baby does have the abnormal chromosome and he said that it is very rare for the baby to continue to full term but if it does it would be severely handicapped with retardation.

I’m freaking out and very concerned but trying to remain very positive. 80% are pretty good odds.

Has anyone else had this experience? Doc said that they could do the amnio at the end of my 14th week which is still a couple of weeks away.

[JMTINNY]

I have no advice, or experience with this, but wanted to wish you well. Like you said, 80% odds are pretty good. I would focus on that.
I will be thinking of you, and am sorry you got this news (though it is probably nothing)

[CdnMom]

Hi

I don't have much input unfortunately with this genetic case but I do have a chromosome problem as well. There is a genetic bb under infertility and the mod there would probably be able to help you out. I will point her in your direction on this bb as well.

Take care

[BC-monarchbutterfly]

that would be me!
mosacism is rare but it does happened. i have heard of a few cases where the cvs says one thing but the amnio says another. it is correct that your baby could be perfectly fine. after the cells seperate at the early stage in pg and what is to become placenta is seperated from what will become baby, the divide comepletely seperately. so what happens in one does not necessarily happen in another. the fact that you have some normal chromosomes in your sample is a good thing and hold onto that. i can only imagine that the next 4 wks or so until your amnio will be very worrisome and sleepless. please try to stay as calm as you can although i know how difficult it will be.
and if i can be of any help please feel free to contact me.
becky

[BC-DKNY]

dublin, i'm so sorry for the uncertianties you're faced with right now. i have no personal experience with this, but wanted to offer you some {{{hugs}}}.

i don't know exactly what the issues were, but i have tow friends who both received some potentially bad news from their cvs testing. they both went on to have normal babies. so i know it happens.

best wishes. i hope you'll update us when you know something further.

[playitagainsam]

Okay, I have no direct experience with a pregnancy involving an abnormal chromosome 2, but I have worked with 2 students with cognitive delays due to the "defect." One had profound retardation (but was a great kid, and had a good life), and the other was more mildly retarded (but had crappy parents, and thus not such a great life, which had little to do with the disability).

My point is that before you take your doctor's word for what a child with ab. C2 looks like, you might want to check into some parent groups and see what the actual symptoms and issues are. You may find that they are as bad as your doctor relayed, or you may not.

Of course, it is very likely that your child will have no disability at all. But if s/he does, you'll feel better if you get all the facts before coming to any conclusions.

Good luck:
Jessica


PS I've gotten yelled at on this board for seeming "too pro-life" on my stance about this, and that's really not where I'm coming from. It's a completely personal decision, and I'm sure whatever you do will be what is right for you and your family.

[momto3angels]

Oh big I am SO sorry you are dealing with this. When I was pg w/ my triplets, our CVS showed a trisomy 2 mosacism. Here is what I found through my research (and consultation with a MD genetics Dr).

CVS tests are one of the most reliable early detection tests for chromosomal abnormalties. The accuracy rate is about 98%. When the test is inaccurate, it most often shows up via a trisomy mosacism--meaning that some of the #2 were paired and some were not. The cause for this error in the test is often bcs the chromosomes are splitting/pairing and it is possible that the test was done slightly early before all the chromosomes are paired. (this is an extremely crude explination).

The other possibility is that the trisomy 2 mosacism is isolated to a placental problem that does not cross over to the baby.

Edited after rereading my notes: We were told it was most likely a placental issue or a faulty CVS test bcs babies with a T2 mosacism most often m/c before the end of the first trimester.

We decided to do an amnio on the baby w/ the T2 mosacism and it came back 100% normal. It was our understanding that there was still a possibility of a placental trisomy issue but that there was no problem w/ the baby.

Our babies, unfortunately, were born premturely and died shortly after their births due to PTL/PROM. We did an autopsy on our dd Hannah--the baby w/ the abnormal CVS. Both she and her placenta came back 100% normal w/ no signs of T2 mosacism.

Ask your doctor for a referal to a genetics Dr. Often, the person you see when dealing w/ genetics has an MA, not an MD, but there are MDs with special training in genetics. We found this to be extremely helpful for us in determining what we wanted to do w/ our results.

I wish you the best of luck and again, I am SO sorry you are dealing w/ this. We chose to do the CVS bcs it is an early detection for problems. We fell into that small % of "faulty test results" I hope the same is true for you.