Got my results from our third loss- now what?

starfishkitty

Yesterday my RE called and let us know that our results arrived from our ?products of conception? that were collected at my D & C earlier in September.  I honestly wasn?t expecting the results to tell us anything.  Everything I?ve read about recurrent miscarriage is that it sucks and you just have to keep trying and eventually one of ?em makes it through, trial and error style.  What she said put the breaks on the whole thing.  The results didn?t make a whole lot of sense to me.  Apparently our little boy (yes I found out it was a boy, all they needed was the XY) had rearranged chromosomes.  Normally when people miscarry they have an extra chromosome or are missing one.  Seven of the 21 chromosomes were normal.  The remaining ones showed a ?random unbalanced rearrangement of chromosome #4 approximately at long arm band 4q31? The additional material on the chromosome #4 long arm, regardless of its origin, makes this particular fetus/placenta unbalanced and abnormal? most likely cause of the loss of this pregnancy??.

The day before my doc just gave me the green light to try again as my normal period just started up again and I was high as a kite to move forward with trying again, confident that in the next 6 months or less I?d likely get pregnant on Femara again like I did before.  I was reading the encouraging studies that say even after 3 miscarriages a normal, healthy person has a 70% chance of having a healthy baby.  However in her call the next day she clearly suggested I may be in the 30% group.  She suggested that we wait until we had genetic counseling before trying again.  Based on my abnormal results I may have a really high chance of miscarrying always (maybe 90% risk, vs. the usual 25% risk), or perhaps we have a genetically abnormal baby that my body brings to term.  As scary as these scenarios are, I am even more scared that we can?t do much about them.  What treatments are available for broken genetics?    While I am relieved to hear there was a reason (and thus can stop blaming myself) I am really scared that these tests are going to tell us that we just can?t have a healthy baby.  That is kind of a game ender.   My optimism that maybe 4th time is a charm just burst with her call.

Next step getting a call for approval for genetic counseling and testing?

GuppyAmy

I'm SO sorry. This whole thing really stinks. I want to say IVF might be a way that they can work around the abnormalities. I could be wrong though.

ColindaP

I'm sorry for your losses. I have no idea what that means - does that mean on 14 chromosomes there is an extra repeat of chromosome 4? I'd recommend not reading too much into what your OB or Google have to say about it until you talk to a genetic counselor, though. They are the ones who can really decode this stuff and tell you what it means in practical terms. GOod luck, and keep us posted.

butterfly843

So sorry, hope you get an appt soon with the genetic counselor.

Shemico

Hi,

You will need to get keryotypes on both you and DH. One of the posibilities is that one of you has a balanced translocation. The other is that this was random.

If one of you does, you can do IVF with PGD (basically they test the genetic makeup of the embryo before implanting). The other option is to try on your own and do an amnio or cvs if you get to that point. My RE basically said that both options would results in a baby, just that it might take longer (more trial and error on your own).

If it was random, then you'll probably be given the option to try again.

I guess I'm a sucess story of sorts for the balanced translocation. Had DD with no issues (and no knowledge of issues), 4 losses, now im 18w ku with another DD who we just found out has the translocation as well (she'll be normal until she tries to have kids). Full story in bio.

Sorry for the novel. Feel free to PM me.

dondraandluis

That is a lot to deal with. I hope you can approved for the testing. I believe that IVF with PGD or PGS is what would be the treatment for something like that, unless there is an issue that has another treatment. But the first would be my guess. GL!

starfishkitty

Thank you for reaching out to me.   Your story was very encouraging as I started feeling like the only one out there with this really rare issue. I would love to talk more. 

starfishkitty

Thank you!  This gives me hope!

csquared426

You do have the option of PGD testing with IVF. My DH has a balanced translocation where 2 of his chromosomes swap during conception that result in miscarriages or severe birth defects. I'm sure the genetic counselor can give you more information.

Good luck!

Clerk9

Oh no.    I'm sorry.  I hope your visit with the genetic counselor gives you some more encouraging news.  

starfishkitty

Thank you!  You are so sweet!  This gives me hope!  I've been feel pretty down since talking with my doc.  I am so happy to find this group. 

 

starfishkitty

Thank you for sharing this.  It is really helpful to hear others with similar issues. 

Daisy07gray

So sorry for your loss!  I hope that you get approval and good information from your genetic counselor & get some good results~

starfishkitty

Thank you for sharing this.  It is really helpful to hear others with similar issues.  That may totally be my issue.   Have you tried the IVF with PGD?

starfishkitty

Good news! We had our genetic counseling today and they confirmed what I was hoping to here. We are NOT carriers of balanced chromosomal translocation! Our fetal tissues had a translocation as well as some extra chromosomal material, but it is believed to be a random occurrence. The results of our individual genetic tests that looked at all 23 of our chromosomes individually (from the test we thankfully already took back in February) show that we are both normal. The good news here is that we can continue to try naturally and there is no hurry to try the painful and expensive approach of IVF plus PGD as we were considering. The next steps are trying to get pregnant again naturally and relying on prenatal genetic testing (2 tests- amniocentesis and CVS)

The only bad news is that we continue to have unexplained recurrent pregnancy loss with no new steps to change the outcome for the next round. The only changes I am making right now is trying weekly acupuncture trying to improve my overall health through diet and exercise. I've been twice so far and I actually do feel something happening to my body while the needles are there. The specialist I see also wants me to take chinese herbs, but) my RE doesn't want me to take any herbs at the same time because she is concerned about the affects of the combination with the fertility drugs (Femara and Progesterone). For helping with the emotional side my RE approved my request for anti-depressants. I will see my primary care physician tomorrow to ask her for the actual prescription. Of course I also have my blog community (thank you readers!), message boards, face-to-face support groups (via Resolve and at Stanford), individual counseling as well as (and a loving husband) for emotional support. Next week there is even a seminar on the topic just up the road at Stanford. It will be good to hear opinions from other medical experts on the subject. In case you are interested, here is a nice link to information on recurrent pregnancy loss.