Testing the Genes

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DNA by Micah Baldwin

 

One of the most fascinating parts of the IVF process is all of the genetic testing that we did. There are many types of genetic testing that couples can do, your doctor will recommend what one is right for you. For Nicole and I, we went with a Carrier Map test of our genes, as well as a pre-implantation genetic testing. In that test they actually remove a single cell from the embryo and have it tested before it’s implanted back into Nicole.

The Carrier Map test was super simple. We each had a bit of blood drawn and then our doctor sent it off to Recombine for genetic analysis. While at Recombine, our DNA was checked to see if we held and genes for hereditary diseases. The majority of hereditary diseases are recessive, meaning that both parents would need to be a carrier of the gene for it to be expressed in the child. Think of it like having red hair.

The genes our DNA was screened for were based off of our nationality and family history. In total I was screened for 289 diseases and Nicole was screened for 314. We were warned that with this amount of screening there is always something that they find. The important thing is that we do not have the same gene issue. If only one of us is a carrier there our child could be a carrier but not affected by the disease.

Our results! We were contacted be Recombine once our results were ready and set up a 7am conference call to go over everything. On the call a wonderful woman named Sheila gave us the results and told us all about what we were carriers for. In total were carriers for 6 diseases. However, the great news was that none of them overlapped so we didn’t need to worry about our future kids. Sheila also asked follow-up questions about our family history so that she could write up a report that went so far as to break down the percentage of passing anything down to our kids. All in all the results were great and our risk of passing anything down is very low. The specific things they found were:

Nick- carrier for; Biotinidase Deficiency, Congenital Disorder of Glycosylation, Glycogen Storage Disease: Type VII, and Hereditary Fructose Intolerance.

Nicole- carrier for; Autosomal Recessive Polycystic Kidney Disease, Gaucher Disease

It was awesome to hear what things we were carriers for and what they did. For the most part mine had to do with my body breaking down sugar. This is interesting because my dad hates fruit, but in reality it’s a personal preference and not actually affected by the genes, though I still think it’s funny. For Nicole, it was fun to learn that she may be an Ashkenazi Jew because she carries the Gaucher Disease gene. But she is more convinced that I just like saying the word Ashkenazi.

Because we are not carriers for the same diseases we did not need to have our embryos tested for a specific gene, but we still did pre-implantation genetic testing. They removed a single cell from the embryo and checked its genetic structure to make sure there was nothing awry. All in all the results were great. Stay tuned for future post about the results as well as chromosome testing and the sex of our embryos!

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