Has anyone miscarried because of Trisomy 7?

cynthalia · 09-23-2009, 01:42 AM

Hi, I am new again here (after a long hiatus of not trying) and had a question...I finally got the results back from my tissue testing after miscarriage, three months ago and I had a trisomy 7. Has anyone miscarried because of this defect in particular and did you end up having a healthy baby afterward? I just started clomid today but also had to give a lot of blood for testing and I was wondering what my dr. could possibly be looking for? Can a mother actually be a carrier for that extra chromosome? I am worried b/c my sister is Down's and I will be 35 in December. Just wondering...It also is hard finding out while looking at that genetic report that the 11 week old baby was a girl..... That was the hardest.

JustinsMama · 09-23-2009, 12:18 PM

Cynthalia-Let me first give you a little background on myself. I had a healthy son in 2006, followed by 4 miscarriages. I don't know the cause of the first 3 (no karyotype was done on those, although I do have some clotting issues so not sure if that was a factor). I do know my 4th miscarriage was due to both triploidy and trisomy 7, and that pregnancy I was treating my clotting issues and that one progressed further than the others, I got to 8 1/2 weeks. (Triploidy means the baby had a full extra set of 23 chromosomes, plus one of the sets had trisomy 7). I also have a chromosomally abnormal brother, my brother has 18q- (part of his 18th chromosome is missing) so I understand your extra fear due to your sister. I am extra fearful of chromosome issues due to my brother's condition. Have you had karyotyping done on youself and your DH? Myself and my DH both had karyotypes done and we are both chromosomally normal. I was told by a genetic counselor that this means we are at no increased risk of having a chromosomally abnormal baby but it still scares me. It might be worth it for you to go see a genetic counselor or a geneticist, has your doctor ever mentioned referring you to one? Anyway, I'm sending you ((hugs)) and wanted you to know that you aren't alone.

uwalcott · 09-23-2009, 10:53 PM

So sorry for your loss.

Ugh I hate trisomy. I have a daughter with partial trisomy 3q (she's absolutely wonderful but I still hate trisomy and the medical issues it has caused her!!!) Anyway after I had her, I went on to lose a baby with Turner's syndrome (missing an X chromosome) and I was convinced that I made chromosomally abnormal babies even though my karyotype was normal and so was DH's. I was petrified to be pg again I was so sure it was going to be another trisomy conception- and lo and behold my youngest has a NORMAL karyotype!! Both babies, my living angel and my heavenly one, had trisomies or deletions that were spontaneous mutations. My answer to you would be no, as long as your and DH karyotype is normal, then your chances of having another trisomic conception are very small- almost as small as the next girl!

I say almost because there is a small risk of something called germline mosaicism, where the eggs or sperm carry something unbalanced- I would recommend seeing a genetic counselor as well. They can tell you what your exact odds are. Sorry for your loss and good luck trying again!

cynthalia · 09-26-2009, 03:09 AM

Thank you guys so much! it is so great being on here and talking to such wonderful women who have learned so much information and are happy to share it with others!!! I know that my Dr is waiting for the results of the blood tests before sending me to a genetic counselor. I had no idea about the genetic karyotyping and I think of myself as a fairly educated woman! So thank you, thank you, thank you, now I know what to ask for!! And Justin'smama thank you for sharing about your brother b/c I am so nervous about having that in my history as well. And to both of you thanks for the encouragement, I am definitely going to call on Monday and ask who they recommend as a genetic counselor!