Post # 1
When my mother was pregnant with me it was discovered that she and I both have an inverted chromosome. The doctors were unsure of what that meant for me, and told my mother that I would likely have severe learning disorders, perhaps even mental retardation. It was actually even recommended to her that she have an abortion. Luckily I was born without any problems or abnormalities.
I have always known that I would want my SO and myself to have genetic testing done before TTC. I would like to know more about the inverted chromosome in general, because the only testing that was done was before I was born. With medical advances I assume more would be known about it now. I would also like to know if Fiance and I are carriers for other genetic disorders.
Before I begin this next paragraph, I want to apologize if I sound ignorant on this subject, because I am honestly not very well educated on it. My FIâ€™s brother had autism (he passed away last year, unrelated causes). I know that it is not exactly known what causes autism, but I am unaware if there is genetic testing available at all to determine risk before pregnancy. I donâ€™t really know much on how genetics figures into the risk of having a child with autism. I would love to hear facts/advice on this if anyone is knowledgeable in this subject.
So I guess Iâ€™m just wonderingâ€¦If any of you have undergone genetic testing/counseling, could you offer advice on how I would begin this process? Would I just speak to my general doctor about it?
Post # 3
A good starting point would be to talk to your doctor about wanting to conceive in the near future and your concerns about the possibility of genetic problems. Meeting a genetic counselor would answer many of your questions and hopefully resolve many of your fears/uncertainties – and give you some answers as well.
Post # 4
I worked in cytogenetics for a while, and a lot of our testing was done for couples who were either concerned about being carriers, were having trouble conceiving, or (saddest) had had several miscarriages that may have been caused by genetic problems with the fetus.
If you know you have an inversion, it’s probably a good idea to get the tests done. It’s a wonderful sign that your mother has the same inversion and was able to produce a healthy child (you), but if I were you I’d like to be sure. And you’re right – it’s best to know if you’re carriers for something else. I think something like 6% of the population are carriers for cystic fibrosis, so it’s not out of the question.
Good luck. And thank you for being such a careful and concerned person when it comes to the health of your future baby! 🙂
Post # 5
I don’t believe that they’ve narrowed down any specific genes linked to autism, but they do suspect that it is somewhat genetic.
Since you already have a risk, I would speak with your OB/GYN, and they should be able to refer you to a genetic counsellor.
Post # 6
I don’t think there are specific tests to test for autism, because they haven’t confirmed the exact genetic link.
I think it’s great that you want to be prepared- perhaps your doctor could provide you with genetic counseling that would be beneficial to you and your husband. Good luck!
Post # 7
I had genetic testing done b/c my husband and I are both Jewish. I just asked my OB about it and what I should do. However, my insurance wouldn’t cover it until I was already pregnant, so we had to wait.
Post # 8
We also had genetic testing done pre-baby, and our insurance did cover it. So I would talk to your doctor/OB-GYN and see what they say, and then see what tests are covered by insurance.
Post # 9
Thanks so much for the replies everyone!
I know that I will feel much more at ease once I know what we’re dealing with, in regards to the inverted chromosome. Could just be nothing, but if it could cause complications…I want to know. And we’ll go from there!
We don’t plan to TTC for another year or more, but I feel that the sooner we get tested, the better…in case we find out we only have certain options.
I will be asking my OB-GYN about the tests at my next appointment.