# Tetraploidy?? ... *UPDATE* Found answers!



## Emily7287

Hello all,
It's been a while since I've posted anything on here. I went through my second D&C in 8 months a couple of weeks ago. I had the tissue sent off and my results just came back in yesterday. The doctor told me that instead of the egg having 23 chromosomes, it had 92 (4 times as many). She said this was called tetraploidy. We don't know if that's what happened with my first miscarriage, but I was just wondering if any one else had gone through this. I will have a Habitual Aborter Panel done (blood work, sonohistogramm, etc.) and then we will be referred to a genetic counselor. 

Any experience with this would be greatly appreciated. TIA!


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## mayasol

While I don't have experience with this, I didn't want to read and leave. I am very sorry for your losses, and I hope you find the answers that you need.


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## FeistyMom

:hugs: I am not familiar with tetrapoidy, but wanted to share condolences for your loss and send :hugs: your way.


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## Caezzybe

I'm so sorry to hear about your lost babies, but glad that things are moving forward with investigations. Even after 2 miscarriages, it's still possible that you could have had 2 random occurences happen and that your next pregnancy could be absolutely fine.

Most miscarriages are caused by genetic problems that are completely coincidental, I've had 2 miscarriages myself and this was probably the case for me. I also have a son with Down Syndrome (trisomy 21) but this was apparently non-hereditary. 

I haven't heard of anyone else mentioning tetraploidy, but do remember another lady on here saying that she had lost a baby because of triploidy (3 copies of every chromosome).

After my last miscarriage (in January) I found it a big help reading Marilyn Glenville's book "Natural Solutions to Infertility" as the facts and figures in there are clear and straightforward. I also tried her advice about dietary supplements and went on to have (as far as I know) a normal healthy pregnancy, conceiving just over a month after losing the last baby. I'm not saying it's the supplements that did the trick, but they won't have done any harm!

I'm not sure what the stats are, but recurrent miscarriage because of any specific repeating problem is comparitively rare. I'm keeping my fingers crossed for you that things turn out well in the future.


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## Lottie86

I don't have experience of tetraploidy (my 2 have both got a rare trisomy) but I just wanted to say that I am sorry to hear of your losses and to send you some hugs :hugs::hugs: Wishing you lots of luck for the future.


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## kosh

so sorry for your losses :hugs:

tetraploidy happens during very early embriogenesis (ie development just after conception). without being too technical, in normal development, a one-cell embrio (with 46 chromosomes = 23 from father + 23 from mother) should divide into two cells with 46 chromosomes each. for this, the chromosomes have to duplicate first. but if the division fails the new cell will have 92 chromosomes (instead of the normal 46).
for what i've read it seems that tetraploidy is not uncommon at all (1 out of 30 early miscarriages)

:hugs:


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## Emily7287

Thank you for the responses ladies! I am having more bloodwork done this week so hopefully I will get some more answers. We don't know if the first miscarriage was tetraploidy or not... but the doctor seems to think it might have been.


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## filipenko32

Emily7287 said:


> Thank you for the responses ladies! I am having more bloodwork done this week so hopefully I will get some more answers. We don't know if the first miscarriage was tetraploidy or not... but the doctor seems to think it might have been.

Hi Emily, 

You're more likely to have a normal pregnancy eventually if they find that the miscarriages are random chromosome problems likes yours. If you have something wrong that comes up in blood work like blood clotting or immune problems then the problem is more difficult to treat. I have had 2 miscarriages now and i am currently going through my third and I don't know why (had lots of tests). I am wondering whether to have the d&c this time and get them to test the tissue. I wondered what the 'symptoms' were of your miscarriage when you had the tissue tested, like did you ever see the yolk sac, fetal pole or heartbeat and how far you got before you knew something had gone wrong. My three are a mixture! The 1st only got to 4-5 weeks, just sac seen then bled. The second got to 7 weeks but the baby only measured 6 weeks 3 days with a beating heart! The third at the moment is just a gestational sac measuring a week behind with a yolk sac at 6 weeks and hcg levels that are not going up. Did you have anything like any one of my miscarriages? Finally I am sure you will have a healthy baby soon because there isn't anything wrong with you so please keep positive, lots and lots of women have a normal baby after miscarriages and it's great that you know it is a chromosome problem as it's unlikely to be repeated as I understand it. x


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## Emily7287

Hi filipenko... I am sorry for the late response! And I am very sorry about your losses. :( We have gotten some answers since my last post. I had the Habitual Aborter Panel done and it turns out I have 2 gene mutations on the MTHFR gene. I have a form of thrombophilia, a blood clotting disorder. These gene mutations are hereditary so it is likely that I got one from mom and one from dad. If you just have ONE gene mutation, it's usually not a problem during pregnancy but TWO makes it almost impossible to have a viable pregnancy. Apparently my body doesn't absorb folic acid the way that it should and when I get pregnant, the developing cells don't get enough nutrients and small blood clots also form. In both of my miscarriages, everything looked great except my progesterone level (below 8 each time). My hcg was great and the yolk and gest sac looked great.... up until the time we were supposed to see a fetal pole. It didn't develop either time. My doctor said that she is almost positive that the gene mutations were causing the stop in development. So, I am on NeevoDHA - a prenatal that is able to bypass my gene mutation & allow my body to absorb the folic acid. It uses something called Metafolin. I am also taking 81mg of aspirin each day. When I get pregnant, I will take Lovenox (blood thinner) shots every day. My doctor seems very confident about this approach. I hope this information helps you.... How is everything going with you?


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## filipenko32

Emily7287 said:


> Hi filipenko... I am sorry for the late response! And I am very sorry about your losses. :( We have gotten some answers since my last post. I had the Habitual Aborter Panel done and it turns out I have 2 gene mutations on the MTHFR gene. I have a form of thrombophilia, a blood clotting disorder. These gene mutations are hereditary so it is likely that I got one from mom and one from dad. If you just have ONE gene mutation, it's usually not a problem during pregnancy but TWO makes it almost impossible to have a viable pregnancy. Apparently my body doesn't absorb folic acid the way that it should and when I get pregnant, the developing cells don't get enough nutrients and small blood clots also form. In both of my miscarriages, everything looked great except my progesterone level (below 8 each time). My hcg was great and the yolk and gest sac looked great.... up until the time we were supposed to see a fetal pole. It didn't develop either time. My doctor said that she is almost positive that the gene mutations were causing the stop in development. So, I am on NeevoDHA - a prenatal that is able to bypass my gene mutation & allow my body to absorb the folic acid. It uses something called Metafolin. I am also taking 81mg of aspirin each day. When I get pregnant, I will take Lovenox (blood thinner) shots every day. My doctor seems very confident about this approach. I hope this information helps you.... How is everything going with you?

Hi Emily, glad you've found some good information out. I have the single mutation on the MTHFR gene so as you say not so much of a problem. I also have suspected blood clotting with something called 'protein s deficiency' but it's so rare that this can cause miscarriages that they're not too sure. Just to be safe i will be on aspirin and blood thinning injections next time. Got all that ready as I get pregnant quickly, do you? I'm hoping for a bfp before december! I decided to go for the d&c and we get our chromosome results from the tissue testing back in a few weeks hopefully, so i'll update on this thread. Are you ttc again now? x :hugs:


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## Emily7287

filipenko32 said:


> Emily7287 said:
> 
> 
> Hi filipenko... I am sorry for the late response! And I am very sorry about your losses. :( We have gotten some answers since my last post. I had the Habitual Aborter Panel done and it turns out I have 2 gene mutations on the MTHFR gene. I have a form of thrombophilia, a blood clotting disorder. These gene mutations are hereditary so it is likely that I got one from mom and one from dad. If you just have ONE gene mutation, it's usually not a problem during pregnancy but TWO makes it almost impossible to have a viable pregnancy. Apparently my body doesn't absorb folic acid the way that it should and when I get pregnant, the developing cells don't get enough nutrients and small blood clots also form. In both of my miscarriages, everything looked great except my progesterone level (below 8 each time). My hcg was great and the yolk and gest sac looked great.... up until the time we were supposed to see a fetal pole. It didn't develop either time. My doctor said that she is almost positive that the gene mutations were causing the stop in development. So, I am on NeevoDHA - a prenatal that is able to bypass my gene mutation & allow my body to absorb the folic acid. It uses something called Metafolin. I am also taking 81mg of aspirin each day. When I get pregnant, I will take Lovenox (blood thinner) shots every day. My doctor seems very confident about this approach. I hope this information helps you.... How is everything going with you?
> 
> Hi Emily, glad you've found some good information out. I have the single mutation on the MTHFR gene so as you say not so much of a problem. I also have suspected blood clotting with something called 'protein s deficiency' but it's so rare that this can cause miscarriages that they're not too sure. Just to be safe i will be on aspirin and blood thinning injections next time. Got all that ready as I get pregnant quickly, do you? I'm hoping for a bfp before december! I decided to go for the d&c and we get our chromosome results from the tissue testing back in a few weeks hopefully, so i'll update on this thread. Are you ttc again now? x :hugs:Click to expand...

Hey Filipenko,
When did you find out you had the gene mutation? Does your doctor feel confident that the blood thinner will solve the problem? I also had the Protein S Deficiency test and a million others done. I chose to have d&c's done for both miscarriages. With the first one, I was just so ready for it to be over... and the second time, I wanted to have the tissue tested. Yes, I get pregnant very quickly too - usually 2nd or 3rd cycle. We were going to start ttc again, but we have planned a trip to France and Italy in February and I don't want to be pregnant and worried about everything while we're gone - since I'm one of those women who calls the nurse everytime I have a weird cramp or twinge, :wacko: lol (plus, I've read flying while taking Lovenox shots isn't advisable). So, we're kind of "on hold" right now. I think I needed some time any way, just for my body to get back to normal and also for me to get back to normally, emotionally! My dr told me that if the blood thinner injections don't work, we will look into genetic testing. I really hope it doesn't get to that point.


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## dogpigly

I am having more bloodwork done this week so hopefully I will get some more answers.


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## filipenko32

Emily7287 said:


> filipenko32 said:
> 
> 
> 
> 
> 
> Emily7287 said:
> 
> 
> Hi filipenko... I am sorry for the late response! And I am very sorry about your losses. :( We have gotten some answers since my last post. I had the Habitual Aborter Panel done and it turns out I have 2 gene mutations on the MTHFR gene. I have a form of thrombophilia, a blood clotting disorder. These gene mutations are hereditary so it is likely that I got one from mom and one from dad. If you just have ONE gene mutation, it's usually not a problem during pregnancy but TWO makes it almost impossible to have a viable pregnancy. Apparently my body doesn't absorb folic acid the way that it should and when I get pregnant, the developing cells don't get enough nutrients and small blood clots also form. In both of my miscarriages, everything looked great except my progesterone level (below 8 each time). My hcg was great and the yolk and gest sac looked great.... up until the time we were supposed to see a fetal pole. It didn't develop either time. My doctor said that she is almost positive that the gene mutations were causing the stop in development. So, I am on NeevoDHA - a prenatal that is able to bypass my gene mutation & allow my body to absorb the folic acid. It uses something called Metafolin. I am also taking 81mg of aspirin each day. When I get pregnant, I will take Lovenox (blood thinner) shots every day. My doctor seems very confident about this approach. I hope this information helps you.... How is everything going with you?
> 
> Hi Emily, glad you've found some good information out. I have the single mutation on the MTHFR gene so as you say not so much of a problem. I also have suspected blood clotting with something called 'protein s deficiency' but it's so rare that this can cause miscarriages that they're not too sure. Just to be safe i will be on aspirin and blood thinning injections next time. Got all that ready as I get pregnant quickly, do you? I'm hoping for a bfp before december! I decided to go for the d&c and we get our chromosome results from the tissue testing back in a few weeks hopefully, so i'll update on this thread. Are you ttc again now? x :hugs:Click to expand...
> 
> Hey Filipenko,
> When did you find out you had the gene mutation? Does your doctor feel confident that the blood thinner will solve the problem? I also had the Protein S Deficiency test and a million others done. I chose to have d&c's done for both miscarriages. With the first one, I was just so ready for it to be over... and the second time, I wanted to have the tissue tested. Yes, I get pregnant very quickly too - usually 2nd or 3rd cycle. We were going to start ttc again, but we have planned a trip to France and Italy in February and I don't want to be pregnant and worried about everything while we're gone - since I'm one of those women who calls the nurse everytime I have a weird cramp or twinge, :wacko: lol (plus, I've read flying while taking Lovenox shots isn't advisable). So, we're kind of "on hold" right now. I think I needed some time any way, just for my body to get back to normal and also for me to get back to normally, emotionally! My dr told me that if the blood thinner injections don't work, we will look into genetic testing. I really hope it doesn't get to that point.Click to expand...

:hi: To answer your questions I found out about the MTHFR mutation in April but I only need to make sure I take folic acid for this for the rest of my life, every day and only the normal dose, it shouldn't affect a pregnancy. The protein s is suspect and that's why I am on the aspirin and blood thinners (Clexane in the UK) only when I am pregnant. I flew while on Clexane as I had to go to Barcelona while I was pregnant and my doctor just said to make sure the needles were kept in hand luggage as the temperature in storage would ruin them. I had to take a doctor's letter with my though. But I suppose yours would be a long haul flight and that might be the reason? Me & hubby have had genetic testing, it cost £600 so very expensive and it came back clear. Genetic mutations like translocations / carriers of cystic fibrosis etc are very rare and your results show random problems - unlikely to recur again so prob no need for genetic testing BUT could be worth just checking for peace of mind?? I hope you have a great holiday! Have you ever been to Europe before? I'm sure we will all be successful eventually and have just had very bad luck. There is a 75% chance that we will be successful next time as long as we haven't had more than 5 mc's according to a study I posted in the PAL forum. :hugs: x

This is the post with the study in it that I posted on the PAL forum: 

_*Hi ladies, 

This is an interesting study. It says that if no known causes ( 'idiophathic miscarriage' ) can be found for recurrent miscarriage (3 or more as defined in this study) then there is a 75% chance of success next time. 
https://humrep.oxfordjournals.org/con...4/11/2868.full

Another interesting fact this report gives is that because of this 'bad luck' statistic, this accounts for the small percentage of women who recurrently miscarry due to bad luck alone i.e. (the 25% chance can be repeated 3 or 4 times in about 1-2% of women who miscarry) So if no reason can be found it really could be bad luck. 
This also fits in with the stat my consultant gave me, he actually said 'less than 1 in 3 chance of it happening again' which is roughly 70%*_

- with treatment for a known cause like blood clotting the odds are still 70%


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