Google+ Baby, Are You Coming?: Chromosomal Defect...Say WHAT?

Tuesday 12 August 2014

Chromosomal Defect...Say WHAT?

In the midst of dealing with DH's depression diagnosis, he also got a call from our fertility doctor about a cytogenetics test he took when he met with the urologist. The test showed that DH has a paracentric inversion of chromosome 1.

I had, still have, no idea what this means. DH has been referred to a geneticist, but it will probably be weeks, if not months, before we get an appointment.

Of course, I had to turn to Google.
From what I found, there are two types of inversions, pericentric and paracentric. There are two sections to a chromosome. A pericentric inversion is when the inversion happens on the centromere, I guess the connection between the two sections. Whereas a paracentric inversion happens on one of the tails.

I don't know what this means for us. I know that chromosomal defects can cause miscarriage. A defect in chromosome 1 can also cause severe mental retardation. Chromosome 1 is also the largest chromosome in our DNA. DH is healthy (except for his sperm and diabetes), so I'm not sure how this inversion affects him. All we can do now is wait for our appointment with the geneticist.

4 comments:

  1. ugh! So sorry girl but I know that God is bigger than all of this bad news that has been thrown your way and I'm praying for you guys!

    waitingforbabybird.com

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    1. Thanks Elisha! I don't think there can be anything else that will go wrong. At least in terms of male factor IF. We are trying to stay as positive as we can.

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  2. Saying prayers along with Elisha for you guys. I can't imagine how tough this must be but God is always there with his plan for us :)

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    1. Thank you for your prayers Amie! We really appreciate it!! xo

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