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TTC: Karyotyping

Updated: Aug 31, 2020

We had our meeting with our fertility doctor this week. My husband and I had already determined during this past month of waiting for our results that we were going to go straight to IVF, no IUI and that we would be doing genetic testing. Sadly, my doctor had not received this information from the medical secretary, the care team nurse or the woman who handles the finances. Well, I was a little disgruntled after waiting a month for my results only to find out that we still need to do more testing. This time, we have to go for karyotype testing.

So, here we go again with the research! First of all, we found out that hubby has sickle cell trait, and I don't, but he may have a type of anemia called thalassemia. This means that our children could carry these genetic traits.

Karyotyping is a type of genetic test looking at the size, shape and number of chromosomes you have, and whether there are locations on the chromosomes that could cause disease in your future child, or if this is one of the reasons you haven't been able to get pregnant. The way my doctor described it is that when we go to do the genetic testing on our embryos, if there are specific genetic traits called translocations. During cell division when the chromosomes line up, some of them may misalign and get paired in the wrong way. In yourself, all of the genetic material is there, but when cell division occurs the next time, it may not produce a viable embryo.

This is our next step, and later, if we get embryos through our IVF, we will go for PGT/PGS. PGS is preimplantation genetic screening. It is beneficial for older women (> 35 years of age) as with age, we are more likely to have any abnormal chromosome in our eggs. This test will screen for chromosomal abnormalities to see if there are abnormal numbers of chromosomes. Of course, this test comes with an additional cost. Again, from what my doctor says, we have to have a decision made prior to egg retrieval for the laboratory phase afterwards, whether we are going to freeze all so we can test all, or if we would like to do a fresh transfer. Fresh transfers cannot be tested as the genetic screening takes time to get back. So, my husband and I will plan to freeze whatever embryos we get and test them all to give the best chances of a successful pregnancy. Again, time is our most valuable commodity, and therefore, we are willing to spend the extra money for testing.

As always, I will keep you posted!

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