The Genome

CMECNE

ASRM Guideline: Preimplantation Genetic Testing for Monogenic Disorders

Learning Objectives and CME/Disclosure Information

Original Launch Date: 6/23/23

Expiration Date: 6/23/25

ACCME PARS: 118381

This activity is intended for healthcare providers delivering care to women and their families.

After completing this activity, the participant should be better able to:

1. Describe how PGT is done
2. Discuss the indications for PGT-M

Estimated time to complete activity: .25 hours

Faculty:

Susan J. Gross, MD, FRCSC, FACOG, FACMG President and CEO, The ObG Project

Disclosure of Financial Relationship

Postgraduate Institute for Medicine (PIM) requires faculty, planners, and others in control of educational content to disclose all their financial relationships with ineligible companies. All identified conflicts of interest (COI) are thoroughly vetted and mitigated according to PIM policy. PIM is committed to providing its learners with high quality accredited continuing education activities and related materials that promote improvements or quality in healthcare and not a specific proprietary business interest of an ineligible company.

The PIM planners and others have nothing to disclose. The OBG Project planners and others have nothing to disclose.

Faculty: Susan J. Gross, MD, receives consulting fees from Cradle Genomics.

Planners and Managers: PIM Planners have nothing to disclose

Method of Participation and Request for Credit

Participants must read the learning objectives and faculty disclosures and study the educational activity.

If you wish to receive acknowledgment for completing this activity, please complete the test and evaluation. Upon registering and successfully completing the test with a score of 100% and the activity evaluation, your certificate will be made available immediately.

Joint Accreditation Statement

In support of improving patient care, this activity has been planned and implemented by the Postgraduate Institute for Medicine and The ObG Project. Postgraduate Institute for Medicine is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physician Continuing Medical Education

Postgraduate Institute for Medicine designates this enduring material for a maximum of .25 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Continuing Nursing Education

The maximum number of hours awarded for this Continuing Nursing Education activity is .25 contact hours.

Read Disclaimer & Fine Print

SUMMARY:

Preimplantation genetic testing (PGT) for monogenic disorders (M) is a form of preimplantation genetic diagnosis. It is an adjunct to assisted reproductive technology (ART) using in vitro fertilization (IVF) to evaluate embryos by genetic testing, preventing the inheritance of serious disorders in the majority of cases. Because of the wider use of prenatal and preconception genetic carrier screening, more disorders are being identified by PGT-M.

What is Preimplantation Genetic Testing?

Most often, it consists of a biopsy performed at the blastocyst stage, allowing 5 to 10 cells to be removed for further genetic testing. The goal is to identify unaffected embryos for transfer. There are different types of testing, depending on genetic disorder that is being assessed.

PGT-M

Most complex form of PGT
PGT-M should always be considered an optional test

Indications

Severe childhood onset conditions
- Constitutes the majority of indications for PGT-M
- Generally there is a lack specific treatment or intervention, such as Tay Sachs disease

HLA matching
- PGT-M is used to identify embryos that have a compatible human leukocyte antigen (HLA) match to become a potential HLA matched stem cell donor to a recipient sibling affected with a specific hematopoietic disorder
- PGT-M is then also used to test the embryos for the same disorder to prevent an affected embryo from being transferred
- HLA are autosomal recessive, therefore, each sibling has a chance of a 25% match with another sibling, given the same parents

Adult-onset conditions
- PGT-M can be used to identify significant adult-onset conditions, such as HBOC

Key Points

Genetic counseling
- Pretest genetic counseling is essential and should include information about the potential identification of incidental findings
- Patients may benefit from genetic counseling once PGT-M results are available, to help guide decision making regarding embryo transfer
Prenatal diagnosis should be offered to all patients who have undergone PGT-M both to confirm the testing results and to screen for other genetic conditions not tested for with PGT-M
PGT-M is not recommended for disorders in which there is no clinical utility, such as variants of unknown significance (VUS)

Learn More- Primary Sources:

ASRM: Indications and management of preimplantation genetic testing for monogenic conditions: a committee opinion.

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ASRM Guideline: Preimplantation Genetic Testing for Monogenic Disorders

Learning Objectives and CME/Disclosure Information

Faculty:

Disclosure of Financial Relationship

Method of Participation and Request for Credit

Joint Accreditation Statement

Physician Continuing Medical Education

Continuing Nursing Education

SUMMARY:

Key Points

Learn More- Primary Sources:

Want to be notified when new guidelines are released? Get ObGFirst!

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