My unborn daughter was diagnosed as a diploid/triploid mosaicism baby at 20 weeks of my pregnancy but we lost her on April 28,2008 and wanted to keep learning about this condition and what the odds are this would happen again
Snuggles,
You should proabably see a genetic counselor. Maybe you obstetrician will give you a referral. They will discuss the gene mutation, and odds of future pregnancies. Insurance should cover it..
You and husband need to know. You can't go through another pregnancy unsure. That is too heart rendering.
Bless you
Hi Sweetheart, it's Julie..David's mom. I'm so sorry...I thought we had talked about this.
My husband and I have had 2 triploid pregnancies...David was the first, a triploid mosaic, and then 4 years later my next baby, Bethany, was full triploid. We did not know at the time about the connection between David and Bethany, as we did not have David's correct diagnosis at that time. The doctors at the time told us...this was 20 years ago, so the information may be outdated...that triploidy occurs in 1 in 7000 pregnancies, but that it accounts for about 25% of miscarriages. But, once you've had one, the odds go to 1 in 100.
We asked him if we shouldn't try to have any more children. He said that we could have 99 children who are fine...that there are many parents who have genetic issues with 1 in 4 odds...eg. as in Spina Bifida odds...who choose to have another child, and do so successfully. He said it's a personal choice, and only we could decide what we could handle.
But, again, we didn't know was that Bethany was not our first triploid baby...but that David was a triploid. I don't know the odds after you've had 2 triploid pregnancies...but I do know that after Bethany, we had 2 more babies, a girl and a boy, and they are both fine. They've grown up with wonderful skills and intelligence, and have vibrant lives...and they very much love their older brother David.
I found an article in an online medical journal that cited that it is not 'uncommon' for moms of triploid babies to have a triploid 'molar' pregnancy immediately before or after the triploid baby. That was the case with us. We had David, who was full term, then we had Bethany, who did not form beyond 12-16 weeks.
Snuggles, in our online yahoo group, there are 33 moms...and a small percentage of us have had more than one triploid pregnancy...I think only 2 of us, out of 33. None of the other moms have reported additional triploid pregnancies in addition to their mosaic triploid babies.
By the way, David was our 3rd baby, Bethany our 4th. We've had 6 children. A healthy girl, a healthy boy, David, Bethany, another healthy girl, another healthy boy.
22 of our mosaic families have other children, 12 in our group have 3 or more children...and only 2 of us have reported multiple triploid pregnancies.
So, based on the statistics in our yahoo group, which is probably the only place on the planet you will find a gathering of mosaic triploidy families, I would say that another triploid pregancy could occur, and has, but that it is a small percentage...2 in 33.
I hope this information helps, Sweetheart.
BTW, getting genetic counseling might help...but you need to make sure that the geneticist is familiar with triploidy and mosaic triploidy...as, in our experience, most of them have never heard of it, and those who might have heard of it, have never seen a case of it prior to meeting David. In all of David's years...he's 24 now...I've only met one doctor who had ever seen another triploid baby.
Take care, Snuggles...and let me know how you're doing.
Love, Julie and David
Hi Snuggles...it's Julie again...
I just wanted to point out something? Triploidy, and Mosaic Triploidy, are not 'genetic' disorders. They are 'chromosomal' disorders. The distinction may seem technical, but the difference is important, in terms of 'genetic counseling' and 'arriving at percentages of recurrance' for future pregnancies.
Snuggles, triploidy, and mosaic triploidy, is something mechanical that happens at the point of conception, or shortly thereafter to the zygote. There is not a genetic mutation within the genes that is passed from parent to child, like a duplication, or a deletion, or something like that.
What happens is that an extra haploid set of chromosomes is introduced to the zygote, either by a 2nd sperm fertilizing the egg, or by the means of a double set of haploid chromosomes inside the mothers's egg, similar to a double yoke in a chicken egg. If it happens at the point of conception, the child is full triploidy. If the additional haploid set is introduced shortly after conception, then there are some stem cells that have already been 'assigned' as blood, and other organs, which do not contain the addtional 13 chromosomes, but those that have not been assigned, receive the extra haploid set, therefore the child that develops is a mosaic, having part of their organs being 'diploid' and the other part being 'triploid'.
Snuggles, that is a mechanical phenomenon, which could occur with any pregnancy, at any time, with anyone. The percentage of that re-occurring with your subsequent pregnancies is no greater this time, than last time.
I know, in my earlier post, I mentioned what the doctor told me, about the 1 in 7000, then 1 in 100. I don't know where those statistics came from, but those statistics were from 25 years ago, and there has been a lot of research done these last 2 decades on this subject....and more recent information is that this occurs in otherwise normal families, and recurrence potential is equal with every pregnancy, with every one.
Snuggles, it is important that you understand that this is not genetic in nature, such that you 'inherited' something that you must now 'be on the watch for'. You didn't inherit anything, because triploidy is not genetic in nature. And, you cannot pass it on, because it is not inheritable. It is a mechanical phenomenon that rarely occurs, and could occur with any and every pregnancy, with everyone.
The fact that there are some of us that had more than one triploid pregnancy does not raise the 'percentage'. It would be an indicator that to some of us, it simply happened again.
I was told, 25 years ago, that triploidy accounts for 25% of miscarriages. I would say that most women who conceive a triploid baby never know they've been pregnant, as the zygote spontaneously aborts, and the mother thinks she's merely had a heavy period.
What I would recommend would be to take the information contained in my post here, to a geneticist, and have them confirm what I've said. Let them explain the difference to you between a genetic disorder and a chromosomal disorder like triploidy. I would imagine they could not give you statistics....as triploidy is so rare the statistics probably are not out there that would be any better than the stats in our mosaic group....but they could probably ease your mind in terms of future pregnancies. Had I been better informed with my subsequent pregnancies, I would have been much less concerned about having another triploidy baby.
I hope I haven't written too much, and over-whelmed you. Feel free to call me...my number is listed on our yahoo support group site. Or, email me directly. I'm here for you...please know that.
Hugggles to Snuggles, from Julie and David! xox
Hiya ladies
At age 34 I was delighted to find I was pregnant just before Christmas last year after a year and a half of trying, a scan in April showed things were not well. I had a amniocentesis which showed a triploidy pregnancy, I had the pregnancy medically terminated at 21 weeks on 11 April 2008. To our complete shock we discovered I was pregnant again in July the hospital were fabulous and in a short space of time I had 6 scans and various blood tests, unfortunately in September I had a miscarriage at 14 weeks, I got the post mortem results back yesterday which shows it was another triploidy pregnancy. My husband and I both had blood taken yesterday which has been sent away to check our chromosomes, we should get an appointment with a geneticist in the next few weeks for results. I cannot sympathise with you enough, its really horrible to go through this and if our chromosome check comes back normal there will be no explanation as to why its has happened to us twice. We were assured after our first pregnancy that the chances of it happening twice were so low we were not to worry about it and here we are, it has happened twice. Now the decision will be if or when we are ready to get back on the rollercoaster and try again.
Thank for your messages they have helped.
Best wishes
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