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. Recall the inheritance pattern of Fragile X
2. Counsel a patient who is a premutation Fragile X carrier about other late onset disorders that are associated with premutation carrier status
Estimated time to complete activity: 0.25 hours
Susan J. Gross, MD, FRCSC, FACOG, FACMG
President and CEO, The ObG Project
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, and has financial interest in The ObG Project, Inc.
Planners and Managers: The PIM planners and managers, Trace Hutchison, PharmD, Samantha Mattiucci, PharmD, CHCP, Judi Smelker-Mitchek, MBA, MSN, RN, and Jan Schultz, MSN, RN, CHCP have nothing to disclose.
Fees for participating and receiving CME credit for this activity are as posted on The ObG Project website. During the period from Dec 31 2017 through Jan 25 2023, 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.
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.
Postgraduate Institute for Medicine designates this enduring material for a maximum of 0.25 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
The maximum number of hours awarded for this Continuing Nursing Education activity is 0.2 contact hours.
Fragile X is a serious X-linked dominant genetic disorder that is strongly associated with significant developmental and CNS manifestations. Prevalence approximately 1/4000 males and 1/8000 females.
Note: Genetic Counseling and informed consent are key components of screening and diagnostic testing
Most cases (98%) caused by expanded trinucleotide repeat (CGG)n in the FMR1 gene
|Maternal Repeat Size||%Full Mutation||#AGG – %Full Mutation|
|45 – 49||0%||0%|
|50 – 54||0||0%|
|55 – 59||0.5||0 AGG – 3%
>1 AGG – 0%
|60 – 64||1.7||0 AGG – 5%
>1 AGG – 0%
|65 – 69||7||0 AGG – 17%
>1 AGG – 0%
|70 – 74||21||0 AGG – 52%
1 AGG – 7%
2 AGG – 0%
|75 – 79||47||0 AGG – 73%
1 AGG – 33%
2 AGG – 7%
|80-84||62||0 AGG – 87%
1 AGG – 67%
2 AGG – 15%
|85 – 89||81||0 AGG – 88%
1 AGG – 83%
2 AGG – 50%
|90 – 99||94|
|≥100 – 200||98|
Adapted from Nolin et al., 2011 and 2015
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Participants have an implied responsibility to use the newly acquired information to enhance patient outcomes and their own professional development. The information
presented in this activity is not meant to serve as a guideline for patient management. Any procedures, medications, or other courses of diagnosis or treatment discussed or suggested in this activity should not be used by clinicians without evaluation of their patient’s conditions and possible contraindications and/or dangers in use, review of any applicable manufacturer’s product information, and comparison with recommendations of other authorities.
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