The day of the appointment arrived, and we were ready to learn more. Getting to the appointment was a bit frustrating. Nick is still working on third shift at this point, and he barely woke up in time to get ready and go.
We arrived a couple minutes late and completely spaced grabbing masks. Back to our car we went, and, luckily, I had a box of disposable masks in my trunk.
It felt like we were already starting off this appointment on the wrong foot.
Read more: Genetic CounselingDr. S. was very kind and did a great job explaining to us what the karyotype test result meant.
I had learned to read the results correctly (mostly), but it was interesting to see it drawn out. Dr. S. provided a printout of what Nick’s chromosomes looked like. That’s the picture at the top.
For chromosomes 8 and 11, it’s as if a piece of each switched over to be on the other chromosome. So, a portion of chromosome 8 (highlighted in orange) is on chromosome 11 (highlighted in yellow) and vice versa.
For chromosomes 13 and 14, one of Nick’s copies of chromosome 14 (highlighted in green) is stacked on top of one copy of chromosome 13 (highlighted in pink). This particular translocation is called a Robertsonian translocation, after the doctor who discovered it.
So even though Nick’s results say he has 45 chromosomes, he has all 46; they’re just not all in the right locations.
These abnormalities don’t cause him any issues, but they do cause problems when creating reproductive cells.
As Dr. S. said, if you remember high school biology, think about meiosis. When the body creates sex cells, the pairs of chromosomes split. That way, when they meet up with the opposite sex’s reproductive cells, the two fuse and form the appropriate 46 chromosomes.
When Nick’s chromosomes split during meiosis, some are normal and some aren’t.
I, being the proactive thinker I am, was ready with questions.
Is there a way to test individual sperm cells to see if the chromosomes are normal prior to IVF? No, because the test itself would destroy the sperm.
Is CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) an option? CRISPR is for specific genes, which are very small sections of chromosomes – not for entire chromosomes.
Is it worth it for us to do another round of IVF? It’s hard to say. What I can do is send Nick’s results, anonymously, to Dr. T. She’s one of the leading experts in translocations in the U.S. She actually has a way to look at a translocation and tell you percentages for miscarriages. Would you like me to send it to her? Yes!
I can’t say that I made it through this appointment without tears, though. And when I apologized, Dr. S. summed it up perfectly: “No need to apologize. You guys have been through the wringer.”
Those who know me know I’m not a huge crier. I can honestly say, I haven’t cried as much in my entire life as I have these last few months.
“Been through the wringer” is an apt description.
IVF That 