Special Needs

Genetic Testing

I'm not a regular poster, but I have questions that are weighing on my mind.  My 1- year old daughter has ADHD and my 3- year old son has ASD (although with the leaps and bounds he's made in the past 6 months, I think it's leaning way more towards some combination of speech delay/SPD)    My DH and I are thinking of having another child, and we had this bright idea to seek out genetic carrier testing before making a final decision.  So, we are scheduled to see the genetics doctor next week, and I expect that he will educate me on the carrier test that would be most beneficial to do.  The only major one I know that I would like to do, is the carrier test for Fragile X and CF, but other than that can they do carrier tests for Trisomy's, Down's - or are all of those during pregnancy genetics tests?    I guess I just wondering if anyone out there is educated on this topic, I'm just hoping to learn a few things before our visit next week.  Any info or past experiences are greatly appreciated!

Re: Genetic Testing

  • @auntie  I believe it should be 11.  If you look at her old posts she intro'd in Jan 2013 with a 9yr old DD 
    To my boys:  I will love you for you Not for what you have done or what you will become I will love you for you I will give you the love The love that you never knew
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  • Yes, typo. 10-year old daughter.
  • We have a 5-year-old with ASD and have been facing secondary infertility for almost 4 years now. We have opted against assisted reproductive treatment until we get our genetics work up.

    First, my REs office tested me for CF, Fragile X, and some other commonly carried issues and I am clear. Next we took DS to the genetics clinic. They did a microarray which came back normal, so now they want to do a test on the genes that have been associated with autism characteristics. The microarray lab was backed up and took about 12 weeks. We are waiting on the gene testing orders, and that test is estimated to take 4-6 weeks. If anything on that test comes positive, both DH and I will be tested to see if we carry the mutations.

    Quite frankly, with DHs intelligence and social hesitations and my sensory issues/anxiety, I'll be surprised if something doesn't turn up on somebody's test.. We just want to know how likely we are to have another child like DS beyond knowing the probabilities we've already heard. Deciding to not have any more children is kind of devastating to me, so if we make that decision, I want to know that it is absolutely necessary.
  • -auntie- said:
    If you are looking at ART in the future, be aware that ICSI has been implicated in higher rates of ASD and ID.


    It's hard to know how to make this choice. One one hand, anecdotally, it seems children of those with a genetic deletion/duplication who share the same genetic difference have more atypical presentations and impairment than the parent. Of course, had there been no child with ASD to trigger the tests, the parent and other sibs might have gone through life with it blissfully unaware.


    I'm aware. :) We have opted not to go beyond IUI, if we pursue anything.
  • Yes they should be able to test you for chromosome disorders like trisomy. During my last pregnancy I found out at 5 months that my son had Trisomy 9. Right away they did a blood test on my husband and I and found that we are not carriers. 

    Recently my older son (who does not have Trisomy 9) was diagnosed with ASD, speech delay, SPD, and epilepsy. We just found out we are pregnant again and I'm worried, but I know it will all work out. We aren't carriers for trisomy so for now, I have to hope for the best. We will be getting the MaterniT21 test though. 
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