Balanced Translocation and Pregnancy

[marie1210]

Good morning!  My question is about balanced translocation.  After 3 miscarriages and infertility testing, my doctor discovered that I have a balanced translocation on chromosomes 2 and 14.  I have not seen my genetic counselor yet but I would like to get some information ahead of time.  Have you come across women with this issue before who have gone on to have healthy children?  Do I have any options other than IVF with PGD?  I'm very worried that I'll never have the chance to have children on my own.  My Obgyn said that it is possible to have children but my chance of miscarriage is higher.  Is there any advice you can give me?

[Forum-M.D.-SP]

Your ObGyn is correct - my experience also has been that couples in your situation can have healthy babies on your own. Your partner should also be karyotyped (the test that looks for translocations). In theory, assuming your partner has a normal karyotype, 25% of all pregnancies you produce should be normal genetically and healthy, 25% should have the same translocation that you have and therefore still be born healthy, 50% will have an unbalanced translocation and be destined either to never implant, or to miscarry. In practice, it is hard to predict whether these odds are the same, or a bit worse, and the genetics counsellor will be able to help. Sometimes a higher % of your eggs can be unbalanced and therefore the risk of miscarriage a bit higher. In my opinion, the main benefit of IVF with PGD is that it will answer for you if you are making ANY embryos that are either normal or would be born healthy but with the same translocation that you have. If this turns out to be the case, even if you do not get pregnant during the IVF cycle, you will know that you can keep trying on your own. It will also tell you if ALL of the embryos you make are abnormal - in which case an egg donor or adoption would be the roads to a family for you. I do not think IVF with PGD will increase your odds of having a normal healthy pregnancy - if that is going to happen, it will regardless of whether or not you have PGD, and the chance of succeeding on your own may be better since IVF only works under the best of circumstances (someone who is 35 years old or younger) approximately 40% of the time - maybe less when dealing with translocations. After three losses, which must be emotionally very difficult, IVF with PGD will provide answers - you need to decide if the answers are important enough to you to justify the cost, which probably is in the $20,000 range for one IVF cycle with PGD.