Our previous post introduced the first Pregnancy Planning and Fertility Preservation workshop hosted by Recombine with presentations by Dr. Serena Chen and Dr. David Keefe. After Dr. Serena Chen spoke about preparing your body for a healthy pregnancy now or in the future, Dr. Keefe shifted the focus to how your genes can affect your baby’s health:
“Each genetic disease is individually rare, but combined they affect 1 in 300 babies.”
Dr. David Keefe took the floor for the second half of the workshop and provided a brief Genetics 101 course. Dr. Keefe covered the basics of how all our genetic material is stored in 23 pairs of chromosomes, one of each pair from our mother and the other from our father. While some mutations, or differences, in our genes make us unique, like those that give us our eye and hair color, other mutations can lead to disease.
Mutations can be passed on to us from our parents or they can arise de novo when the sperm and eggs are made.
Carrier screening enables couples to assess their risk of passing on disease-causing mutations onto their children. Dr. Keefe discussed the importance of carrier screening coupled with compassionate and skilled genetic counseling in empowering individuals to make informed reproductive decisions. Genetic counseling becomes an interaction and discussion to frame your results within yours and your partner’s unique family history.
The talk was marked by Dr. Keefe’s own anecdotes about his experience with genetic disease. Dr. Keefe remembers one of his classmates in high school who was different from the other students- everyone knew him as the “slow” kid. When he went back for his high school reunion as an adult, he learned that his classmate had passed. It turns out his classmate had Fragile X syndrome, which causes learning disability and cognitive impairment. In the time since Dr. Keefe graduated from high school, there were many advances in the field of genetics leading to a better understanding and care for children and adults living with genetic disorders, including Fragile X.
Following the workshop, guests also had a chance to have their questions about fertility and genetic testing answered by Dr. Chen, Dr. Keefe, or one of our genetic counselors. It was reassuring to find that women and couples have many of the same questions!
If you missed this event but want to be notified of our next event in NYC, email firstname.lastname@example.org. To learn more about Recombine, follow us on Twitter @Recombine and like us on Facebook to stay up to date on genetics and fertility news.