Test Results from m/c - Help!

MooFish2364

I had my d/c over 3 weeks ago for my missed miscarriage at 10 weeks. I just got a call from my doctor with the testing results. I didn't even know they were going to run any tests since this was my first miscarriage but I guess they did. Anyways, he said that the baby had monosomy 5p aka Cri Du Chat. 

I have tried to donsome research most most only talks about children that are already born with it. Of course, now my mind is reeling with thoughts about if we will be able to have a healthy baby? Is one of us a carrier for a genetic mutation? What are our odds of a healthy baby? Should we get genetic counseling? Am I emotionally ready to even receive the results of genetic testing? I'm going with a big fat no on that one. 

Anyways, do any of you know anything about this? I would appreciate any/all help. I'm stuck at work and I'm trying to hold it all together. This has been a really hard week for me and this was the last thing that I needed to hear. 

HLD3194

@moofish2364"Most cases of cri du chat syndrome are not inherited. The chromosomal deletion usually occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. People with cri du chat typically have no history of the condition in their family." Found this online. Hope it helps. There is nothing wrong with you or your husband and chances are your next pregnancy while have no issues. It is something that just happens and it is bias to no one. You did nothing wrong and could not have prevented or caused this to happen in any way. Stay strong and cry if you need to. I found holding it in made me even more emotional. Getting it out helps you to heal and recover.

BrightenMySky

I think talking to a genetic counselor could be good--did your OB offer that to you?  Mine did, when we got our results, but I ended up not doing it because we already had an appointment with our RE to discuss, and I really trust him (plus know he is compassionate).  Our loss had triploidy of paternal origin (three of everything).  It seems like these things are often truly random.  So nothing you could have done differently, and very unlikely to happen again.  

On the testing issue, we did Counsyl family prep screen when we first started TTC.  We definitely wanted to do it because we are both part of a group with slightly elevated levels of some diseases.  We didn't get perfect results, but it's not something that gives us a high risk of having a baby that would actually have problems.  Overall glad to know.  

I hopefully will get pregnant again and right now will plan to do the early fetal DNA testing.  I felt so blindsided by finding out about our loss, and I at least want to know next time (and hopefully there will be a next time) if I need to prepare myself. 

MooFish2364

@crazypt2285 thank you for taking the time to research on my behalf. I was able to do a little bit more even though I'm at work. I'm not usually a Debby downer but the last few months have recalled sucked for me and not just because of my pregnancy loss. I just need to slow down and take things one day at a time. 

@BrightenMySky yes, my OB did offer genetic testing. He said to think about it and talk it over with my DH, which we will do tonight. I think it could be of value, especially since we each have one parent that was adopted. So we really do not have an even close to complete medical history. To be honest though the thought of genetic testing scares me to death! I'm terrified that we will get an answer that we won't ever be able to have a healthy baby and I'm not sure I could handle it. 

I really hope everything works out for you and that you will have your healthy happy baby sooner rather than later. Do you know how soon they can do the early fetal testing? I'm wondering if that's something that I should do if/when I get pregnant again. 

BrightenMySky

@MooFish2364 I meant talk to a genetic counselor about the testing you just had on your baby.  A counselor should be able to help you understand how it happens and the chances it could happen again.  

And thanks for the well wishes.  I think the fetal DNA testing is usually 11/12 weeks, which would not have helped me here, but in my own internet research it looked like some losses from triploidy occur earlier than mine did, some occur later...so I think I would just want to know in case I was likely to have another miscarriage or a stillbirth--not even that I would necessarily do anything differently (maybe I would, who knows), but just so I could prepare myself.  While I have had friends struggle with loss and I knew it was a possibility, I was so unprepared to find out there was no longer a hb when I went in for a "routine" ultrasound (and was still puking from morning sickness).