One Test at a Time: Explaining the Confusing World of Genetic Testing in Fertility and IVF

Written By Lora Shahine, MD

PGT-A, PGT-M, PGT-SR, Carrier Screening, Karyotype — oh my! The options available for genetic screening in fertility testing and IVF treatment can get confusing.

Understanding testing available to you BEFORE treatment as well as DURING the IVF process is key. These tests can decrease risk of disease and miscarriage and improve success rates with a single embryo transfer, but there are pros and cons for every intervention. It can be difficult to keep it all straight and overwhelming to know what to do. 

In this episode, Dr. Lora Shahine goes in depth on what tests are available, what they are screening for, who is a good candidate for genetic testing, and what your options are when the results come in.

You’ll finish this episode understanding genetic testing and screening in fertility and IVF and knowing what questions to ask your doctor about what’s right for your personal situation.

As always, please share this episode with others on or considering a fertility treatment journey — if you don’t know anyone (or know you know anyone), consider leaving us a review to help others find the podcast.

In this episode you’ll hear:

[0.00] Genetic testing of embryos for IVF patients. 

  • genetic screening of embryos for infertility patients, including testing for specific mutations and benefits

  • genetic testing options for embryos, including PGT-A, PGT-M, and PGT-S

[3:10] Genetic testing for embryos before IVF

  • preimplantation genetic testing (PGT) for single gene disorders in IVF

  • genetic disorders and the importance of carrier screening before IVF 

  • the option to test embryos for specific mutations

  • PGT Sr. is preimplantation genetic testing for structural rearrangement, which requires knowing what to look for before testing embryos

[10.23] Balanced translocations and their impact on pregnancy

  • what are balanced translocations and what is their effect on fertility

  • what are your management options

  • testing embryos for chromosome content to reduce miscarriage risk.

[15:58] Genetic testing for embryos during IVF 

  • preimplantation genetic testing for aneuploidy (PGT-A)

  • the risk of chromosomal abnormalities 

  • what are your options when the results come in

[21:58] Karyotype test for people having recurrent pregnancy loss

  • this week’s fertility story: couple with 10 miscarriages

  • both partners should test for a balanced translocation with a karyotype test

  • the importance of seeking a second medical opinion and not giving up hope on fertility treatments

Resources mentioned: 

ASRM Committee Opinion of Preimplantation Genetic Testing for Monogenic Conditions 

ACOG summary of Preimplantation Testing 

ACOG FAQ’s about Genetic Carrier Screening 

Stay Up to Date in Fertility News and Events:  Weekly Newsletter

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Lora Shahine, MD

Dr. Lora Shahine, reproductive endocrinologist at Pacific NW Fertility and Clinical Assistant Professor at the University of Washington in Seattle, completed her residency in OBGYN at the University of California in San Francisco and fellowship in reproductive endocrinology at Stanford University. She is dedicated to educating and advocating for increased awareness of infertility, miscarriage, and the impact on environmental toxins on health through an active social media presence, teaching, clinical research, and authoring multiple blogs and books including best selling, ‘Not Broken: An Approachable Guide to Miscarriage and Recurrent Pregnancy Loss.’

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