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?