Genetics.

Last Wednesday, as I mentioned before, we met with the genetics counselor at CCRM. It was a simple little appointment and not much to talk about. I did, however, ask about Jay’s karyotyping test that he had performed earlier.

Karyotyping is a view of a person’s DNA to determine any chromosomal anomalies.

We had read the report we received from the Naval Hospital and assumed it was normal. I asked her about it for peace of mind. The counselor went to find the paperwork we had turned into our nurse earlier that day, but she had already sent it to medical records to be scanned into the system. She told us that she would review it before the end of the day and call us if anything was amiss.

We went about the rest of our day.

Right before 5pm, I received a phone call from the CCRM office. The woman on the phone said this..

“The genetics counselor would like to meet with you tomorrow after your US appointment. There is no need for alarm, but she would like to discuss your husband’s karyotyping and needs you to sign another form”.

Now, Jay had taken a picture of the report and sent it to me a week or two before this. So we did the only thing we could think of and analyze it once more. The report said that Jay has a Pericentric Inversion of Chromosome #9 at p11q13, considered a normal population variant. We then did what most rational people would do, we googled the heck out of what this means. I won’t get into what we found out through Dr Google but let’s just say it wasn’t pretty. I was a mess, Jay was a mess, and we were anxious wrecks all night before heading back to CCRM the next day.

The next morning, I had my usual US and blood work done, and afterwards, we met with the counselor. We warned her that we google and I should know better because I am a nurse, I advise my patients to never google things! She handed me a box of tissues as I start to cry.

She explained the issue to us and told us that this clinic sees this issue in 1 out of 100 patients. What happens with the chromosome is that a piece of it removes itself, flips, and reinserts itself. There is no missing DNA, which means that the inversion is “balanced”. 200px-pericentric_inversion

With that said, there are three possible outcomes when we create embryos:

  • The embryo will have normal chromosomal constitution
  • The embryo will have the same balanced inversion as Jay
  • The embryo will have an unbalanced chromosomal constitution and will result in failed implantation, miscarriage, stillbirth, or the birth of a child with physical and/or developmental issues.

With this said, the genetics counselor does not seem to believe that this is the entire issue of our infertility struggle, rather just a small piece of it. We planned on performing genetic testing of our embryos once we get to that stage, now we will perform high-resolution genetic testing instead. This procedure takes a very comprehensive look at the genetic makeup of the embryos we create. Yes, it is a little confusing! Please ask if you would like me to explain it further!

With all of this said, we continue to take things one day at a time.

I am behind in updating and all but we have been pretty busy the last week or so. I’ll get you all caught up to speed in the next few days, and it’s definitely exciting updates!!

Until next time.. 🙂

Here are a few pictures from our visit to the Denver Botanical Gardens  for your viewing pleasure ❤

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A little ladybug for luck.

Credit to my awesome hubby for taking these amazing pictures!

 

 

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