Navigating the Complexities of Genetic Counseling: Insights from a Trainee Genetic Counselor
Trisomy Family StoriesShow Notes
Join us for an enlightening discussion with Beth Hughes, a trainee Genetic Counselor, as we delve into the fascinating world of genetic testing and ethics. In this episode, we explore a range of intriguing topics, including the cutting-edge advancements like Non-Invasive Prenatal Testing (NIPT), the concept of Mainstreaming, and the roll out of improved newborn screening. Beth shares her firsthand experience working with a family grappling with a diagnosis of balanced translocation trisomy 13, shedding light on the emotional complexities and medical considerations involved. Tune in to gain valuable insights into the world of genetic counseling, you're sure to learn something new!
*Correction for Podcast Content*
Egg and sperm cells normally have 1 copy of a chromosome and join together to make an embryo with 2 copies. If someone has a balanced translocation, sometimes when their DNA replicates and separates to make an egg or a sperm cell, the cell has 2 copies of a chromosome instead of the normal 1. This means when it joins with an egg or sperm cell with 1 copy, the resulting embryo has 3 copies of a chromosome and has a trisomy.
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