pgta

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

Follow @drlorashahine Instagram | YouTube | Tiktok | Her Books

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

Follow @drlorashahine Instagram | YouTube | Tiktok | Her Books

On this episode we talk with Dr. Richard Paulson about PGT.

More information on these topics is at www.asrm.org

Tell us your thoughts on the show by e-mailing asrm@asrm.org

Please subscribe and rate the show on Apple Podcasts, Google Play or wherever you get your podcasts.

ASRM Today Series Podcasts are supported in part by the ASRM Corporate Member Council.

Join us on today's episode as we explore the world of preimplantation genetic testing (PGT) with the renowned Ob/Gyn Dr. James Grifo. With his extensive experience as a professor at NYU and program director at NYU Langone Prelude Fertility Center, Dr. Grifo breaks down the differences between PGT-A, PGT-M, and PGT-SR. Learn how PGT reduces the risk of miscarriage, increases the chances of a successful pregnancy, and helps identify genetic mutations in embryos. We'll also discuss the accuracy of PGT testing, its impact on embryo biopsy, and the controversy surrounding it. 

For more information on this topic visit asrm.org

Tell us your thoughts on the show by emailing asrm@asrm.org

Please subscribe and rate the show on Apple Podcasts, Google Play or wherever you get your podcasts.

ASRM Today Series Podcasts are supported in part by the ASRM Corporate Member Council.

 

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In this episode, we talk to Dr. Alyssa Snider, VP of Clinical Genetics Services with Igenomix, about translocation flagging from PGT results. Dr. Snider is a genetics expert with a PhD in genetics and a certified genetic counselor. She shares her journey into genetics and how it led her to focus on medical genetics for IVF patients. In this interview, Dr. Snider discusses her co-authored article titled "Criteria to Evaluate Patterns of Segmental and Complete Aneuploidy Utilities in PGT-A Results Suggestive of an Inherited Balanced Translocation or Inversion." The article aims to help healthcare providers, physicians, nurses, and patients determine when aneuploidies are random or part of a larger pattern. Dr. Snyder explains how these patterns are different from genetic conditions like Down syndrome or Klinefelter syndrome, which are usually sporadic. Don't miss out on this insightful conversation with Dr. Snider. 

More information on this topic is at www.asrm.org

To review this article, https://www.fertstertreports.org

ACMG meeting information https://www.acmgmeeting.net

Tell us your thoughts on the show by emailing asrm@asrm.org

ASRM Today Series Podcasts are supported in part by the ASRM Corporate Member Council.

"One of the biggest challenges that PGT (preimplantation genetic testing) has presented to the field of IVF is this phenomenon of mosaic results - these results that neither clearly normal nor clearly abnormal but somewhere in between." - Emily Mounts, MS, CGC

Mosaicism is very challenging topic and there are many unknowns that clinicians deal with regularly. ASRM Today speaks with Emily Mounts who is the Director of Genomic Services and a genetic counselor with ORM Fertility in Oregon, about the recent ASRM Practice Committee Opinion on "Clinical management of mosaic results from preimplantation genetic testing for aneuploidy (PGT-A) of blastocysts".

Emily Mounts is a board-certified genetic counselor at ORM Fertility. She has been practicing in prenatal and reproductive genetics for over 20 years and is the Immediate Past Chair of the ASRM Genetic Counseling Professional Group. She is one of the primary authors of the forthcoming ASRM Committee Opinion publication, Clinical management of mosaic results from preimplantation genetic testing for aneuploidy (PGT-A) of blastocysts.

This Practice Committee Opinion will be available on August 5, 2020. To view this and all ASRM's Practice Committee documents, visit ASRM.org

If you'd like to know more about the types of practice documents and the methodology of their creation, visit this page on ASRM.org

The ASRM Today podcast is supported in part by the ASRM Corporate Member Council

"One of the biggest challenges that PGT (preimplantation genetic testing) has presented to the field of IVF is this phenomenon of mosaic results - these results that neither clearly normal nor clearly abnormal but somewhere in between." - Emily Mounts, MS, CGC

Mosaicism is very challenging topic and there are many unknowns that clinicians deal with regularly. ASRM Today speaks with Emily Mounts who is the Director of Genomic Services and a genetic counselor with ORM Fertility in Oregon, about the recent ASRM Practice Committee Opinion on "Clinical management of mosaic results from preimplantation genetic testing for aneuploidy (PGT-A) of blastocysts".

Emily Mounts is a board-certified genetic counselor at ORM Fertility. She has been practicing in prenatal and reproductive genetics for over 20 years and is the Immediate Past Chair of the ASRM Genetic Counseling Professional Group. She is one of the primary authors of the forthcoming ASRM Committee Opinion publication, Clinical management of mosaic results from preimplantation genetic testing for aneuploidy (PGT-A) of blastocysts.

This Practice Committee Opinion will be available on August 5, 2020. To view this and all ASRM's Practice Committee documents, visit ASRM.org

If you'd like to know more about the types of practice documents and the methodology of their creation, visit this page on ASRM.org

The ASRM Today podcast is supported in part by the ASRM Corporate Member Council.