One of the most beneficial and confusing components of our pregnancy journey was the genetic testing. As you might know, when someone gets pregnant your doctor may offer to perform genetic carrier screening on you and your partner in order to identify if there is any risk of medical conditions being inherited by your baby. As a lesbian couple, we had the opportunity to complete genetic screening for myself and then cross reference it with sperm donors to reduce the risk of passing on serious health conditions onto our child. In today’s post I will be discussing genetic testing, counseling, and its benefits.
What is Genetic Testing?
Genetic testing is part of a routine practice for determining donor eligibility at U.S cryobanks. Genetic testing looks for changes or mutations in one's DNA. This testing is done by collecting saliva or blood samples from an individual and is then sent for testing; the results are usually available in a few weeks. Genetic testing screens for numerous genetic conditions such as Cystic Fibrosis, Fragile X syndrome, Spinal Muscular Atrophy and much more.
Benefits of Genetic Testing
Genetic testing minimizes the risk of your child inheriting serious medical conditions. As I had mentioned in my post “Choosing a Donor,” I discovered that I am a carrier of a rare serious gene mutation called GLB1. The GLB1 mutation causes serious disabilities and medical conditions that in many cases are fatal. In infants this mutation can cause damage to the nervous system, blindness, deafness, seizures, etc. The life expectancy of a baby with this disorder is only 2-3 years. I also found that I am a carrier for Fragile X syndrome which causes intellectual disabilities. This is yet another rare condition and I was almost not tested for it because the probability of being a carrier was small. However, after consulting with a genetic counselor we found out that the mutations in my X chromosome will not affect my children. It was important to learn about these mutations so that I could make sure that the donor we chose was a good fit for us. Even if I did pass on these conditions to my child, it is beneficial to be prepared for when he/she is born.
Benefits of Expanded Genetic Testing
Many cryobanks offer expanded genetic testing which screens for over 100 different genetic conditions. As of 2018, FairFax Cryobank has all of their donors screened for over 200 genetic conditions. Also California Cryobank tests for over 260 different genetic conditions. It is important to research the cryobank’s website to see exactly what they screen for. Also make sure to look into your donor choices genetic testing results to cross reference them with your own. We recommend discussing which genetic testing you should undergo with a medical professional. We had used the tellmeGen genetic testing at first and found that it did not test for certain conditions such as Fragile X and the GLB1 conditions. These two conditions were later found through a more extensive test recommended by my fertility doctor. The more conditions the testing screens for, the less chance you have of passing a genetic condition on to your child just by the knowledge of understanding what to look for.
What is Genetic Counseling?
According to the CDC, genetic counseling provides you with the opportunity to meet with a professional and learn about possible conditions you could have and potentially pass down to your baby. A genetic counselor will look at you and your family’s health history and determine if you or your partner should get genetic testing. If your genetic counselor recommends genetic testing, they will sit down with you after and discuss the results of your test. They will determine the probability of passing on any conditions down to your baby.
Benefits of Genetic Counseling
Receiving your genetic testing results can be overwhelming, especially when you find that you are a carrier of a condition that you probably never heard of. Your OBGYN and/or your fertility doctor also may have limited knowledge of some of the more rare genetic conditions. When I received my results my fertility doctor could not tell me what the probability of the conditions being passed on to my baby were or what the conditions were. He referred me to a genetic counselor to help break the results down for me and explain what they meant. Thankfully our genetic counselor was very patient because I had her explain the results to me probably three or four times until I finally understood what she was telling us. She helped ease my anxiety about my results and helped me navigate our donor’s genetic testing as well. She was able to explain the probability of passing the conditions onto my child based on the results from the donor. The peace of mind that came with speaking to someone about the results was more than enough for me.
If you are interested in learning more about genetic counseling click here.
References
Centers for Disease Control and Prevention. (2022, June 24). Genetic counseling. Centers for Disease Control and Prevention. Retrieved April 1, 2023, from https://www.cdc.gov/genomics/gtesting/genetic_counseling.htm
Centers for Disease Control and Prevention. (2022, June 24). Genetic testing. Centers for Disease Control and Prevention. Retrieved April 1, 2023, from https://www.cdc.gov/genomics/gtesting/genetic_testing.htm
Expanded genetic testing. Expanded Genetic Testing | California Cryobank. (n.d.). Retrieved April 1, 2023, from https://www.cryobank.com/services/genetic-services/expanded-genetic-testing/
Genetic disease testing. Fairfax Cryobank - Find a Sperm Donor. (2020, June 30). Retrieved April 1, 2023, from https://fairfaxcryobank.com/genetic-disease-testing
Molly R Payne, Anne-Bine Skytte, Joyce C Harper, The use of expanded carrier screening of gamete donors, Human Reproduction, Volume 36, Issue 6, June 2021, Pages 1702–1710, https://doi.org/10.1093/humrep/deab067
Silver, A. J., Larson, J. L., Silver, M. J., Lim, R. M., Borroto, C., Spurrier, B., Morriss, A., & Silver, L. M. (2016). Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children. Genetic testing and molecular biomarkers, 20(6), 276–284. https://doi.org/10.1089/gtmb.2016.0014
Sperm donor genetic screening. ORM Genomics. (2019, January 8). Retrieved April 1, 2023, from https://ormgenomics.com/genetic-carrier-screening/sperm-donor-genetic-screening/
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