Chromosome marker found — The Bump
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Chromosome marker found

We just got the results back from our amnio . Tested negative for downs, trisomy, etc. However, they found a partial chromosome. Currently my husband and I are having our blood tested to see if either one of us has the same issue. If not, further amnio testing will be needed, and it doesn't sound promising. Has anyone experienced this? And if so, what was the outcome?

Re: Chromosome marker found

  • It sort of depends on what chromosome is affected and if you or DH is also affected. If you or your husband has the same deletion and you turned out ok, then chances are your child could be unaffected. HOWEVER, there is also a chance that your baby will be affected because even people born with the exact same deletions can have hugely differing outcomes.

    Our DS has three micro-deletions on chromosome #1. We did not know this prior to his birth because the deletions were too small to be picked up on the CVS test. He has a lot of issues hypoplasia of the corpus callosum(brain structure), hearing loss and macular hypoplasia. So far, he has turned out to be the best baby. He is behind developmentally (i.e he is still army crawling and poorly at that) and may have problems later in school because of the brain issue. We expected the worst (tube fed, breathing problems, non-verbal, & autism diagnosis to name a few) and those issues haven't really panned out.

    I recommend talking with a geneticist once you know exactly what is going on. To be honest, I had a CVS to avoid having to "deal" with a special needs child. If we had known about his issues after the CVS at ten weeks, I cannot truthfully say that we wouldn't have terminated the preganacy. Maybe we would have decided to take our chances. We would have gambled correctly. He picked us to be his parents and I am glad I did not have to make a very difficult decision. I cannot imagine him not being in our lives.

    Good Luck and I am hoping for the best. ((hugs))


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