Brave & Curious with Dr Lora Shahine22 Jan 2024

Ep 55 One Test at a Time: Explaining the Confusing World of Genetic Testing in Fertility and IVF

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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