BONUS 62: How Genetics Impact Infertility

August 5, 2016

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Today’s bonus episode guest is Dr. Kimberly Martin, senior global medical director of Natera‘s Women’s Health franchise. She and Heather discuss everything you need to know about how genetics impact infertility:

  • Before we get too far, I’d love to hear a simple explanation of why chromosomes are so important to fertility.
  • Chromosomally abnormal embryos have a low rate of implantation in the mother’s uterus, often leading to miscarriages. Let’s talk about the different kinds, starting with a missing piece of a chromosome, also known as a deletion.
  • The second type is an upside-down chromosome, or an inversion.
  • The third type is a change in the gene’s DNA sequence, or a mutation.
  • The fourth type is too many or too few chromosomes, also known as an aneuploidy.
  • The final type is when the chromosome pieces attach to the wrong chromosome, also known as a translocation.
  • For the second half of our discussion, I’d like to talk about inherited genetic diseases. Can you tell us about single-gene diseases?
  • What about multifactorial diseases?
  • At what point should someone consult a genetic counselor?
  • What else would you like to add?

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I strongly advocate for genetic counseling for couples as the technology in the field is constantly changing. Click To Tweet

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