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Results of 2nd MC: Trisomy 6. Feeling lost, advise pls! :(

Hi all, 

I am back again after my MC in February. I had been waiting to get into the Recurrent Pregnancy Loss Clinic as this was now my second miscarriage (I’m in Canada btw). I just found out yesterday that they rejected my referral for not meeting the criteria.. Turns out my results for my last miscarriage came back but no one told me and it turns out the baby had Trisomy 6. I can’t find anything online about this trisomy other than on this site called “rarediseases” which seems to say that this trisomy is extremely rare and usually caused by a balanced translocation of the mother. No one in my family experienced pregnancy loss and all have children (my mom had 3 with zero problems). I’m still so concerned I have been passed one of these translocations. :( 

Has anyone heard or trisomy 6? 

All of this is that much harder because I don’t have a proper doctor. I just see a walk in clinic here (it’s very hard to get a doctor where I live). They referred me to an IVF clinic for further testing and I spoke to them today and they’ve sent me a requisition for karyotype testing. I am waiting at the clinic right now to get my karyotype bloodwork done but results can take 2 - 3 months I am told by the IVF clinic.

Sorry this is all over the place. I guess just wondering if anyone has experience or suggestions. I wouldn’t be so concerned but this is my second loss and the first was not tested. Thank you. Xox Baby Dust to everyone!

Replies

  • Chloe87Chloe87 Regular
    edited Jun 27, 2020 1:14PM
    I think they test for this at 12 weeks to check for Down syndrome, Edward syndrome and Patau syndrome are the most common forms of trisomy. The  6th chromosome (6q) is present three times (trisomy) rather than twice in cells of the body

    Sorry for ur loss xx
  • MadDodaMadDoda Regular
    edited Jun 29, 2020 8:40PM
    Hi,im so sorry for your losses.

    I just wanted to say that trisomy 6 is not described as it's in utero lethal. Only 3 somatic trisomies can survive pregnancy and lead to live birth, 13 18 21. It's because those chromosomes are the smallest and don't not strain gene load as much. The rest chromosomes are larger and triplication of genes is lethal in all cases. I wouldn't worry about it in terms of following pregnancies, it's type of very rare mutation, it's one off. I doubt you will ever experience it again. It's unfortunate but random chromosomal abnormalities are the most common reason of miscarriages. If they done karyotyping on ur last loss, they would have found other problems and you would know about them. So I don't think there is any problem with ur karyotype. Obviously that doesn't exclude  other possible gene mutations u may carry as anyone of us, but there is no reason to suspect u have any, considering your family history. 

    I hope that helps. 
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