Genetics, Genetic Testing, and Miscarriage

Have you experienced a miscarriage? What type of genetic tests should you consider to prevent another miscarriage? We will talk about Genetics, Genetic Testing, and Miscarriage with Kim Skellington, a laboratory genetic counselor with CooperGenomics providing pre-test and post-test counseling to patients regarding genetic testing, and Dr. Rachel Gerber, a board-certified Reproductive Endocrinologist and Infertility Specialist with RMA NY.

In this episode, we cover:

  • What causes a woman to miscarry a pregnancy? 
  • How common is miscarriage? 
  • What is considered Recurrent Pregnancy Loss (RPL)? 
  • How common is recurrent pregnancy loss? 
  • Basic introduction to DNA, genes, and chromosomes. 
  • Genetic Testing of Products of Conception
    • What can go wrong with the genes of a fetus that would likely result in a miscarriage? 
    • What genetic tests on the products of conception are available after a miscarriage to determine the cause? 
    • At what point does a doctor consider genetic testing of the products of conception to determine the cause of the miscarriage? After the first miscarriage? Second? Third? How does a woman’s age impact this decision? 
    • How are the products of conception tested? What are patients told to do? 
  • Genetic Testing of Embryo
    • What is preimplantation genetic testing? 
    • Distinction between PGT-A, PGT-M, PGT-SR?
    • Is PGT effective at preventing miscarriage? What does the research currently show? 
    • Are mosaic embryos more likely to miscarry?
  • Genetic Testing of Parents
    • What parental chromosomal abnormalities can cause a miscarriage? 
    • What is a chromosomal translocations and can that cause a miscarriage? 
    • Is there a gene or genes that has been found that makes it more likely that a woman will miscarry a pregnancy of a chromosomally normal fetus? 
    • If a woman’s mother had multiple miscarriages, is she likely to have miscarriages?
    • Can these genetic anomalies by found by Parental karyotyping?
  • What is the prognosis for women trying to get pregnant after having had recurrent miscarriages? 

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Music Credit: Michael Ashworth

Image Credit: Fayette Reynolds, M.S.