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. Recognize the minimum number of disorders that are currently recommended by ACOG for prenatal carrier screening in individuals of Ashkenazi Jewish heritage
2. Counsel patients who are found to be carriers for autosomal recessive disorders
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.
Offering carrier screening for various autosomal recessive conditions to patients of Ashkenazi Jewish or Central/Eastern European Jewish heritage has been a longstanding recommendation. ACOG describes a targeted panel. ACMG endorses panethnic prenatal carrier screening rather than direct larger panels toward specific high risk groups (see ‘Related ObG Topics’ below)
ACOG guidelines recommend, at a minimum, screening for the following disorders when offering genetic testing to those of Ashkenazi Jewish background
ACOG includes the following disorders where screening ‘should be considered’
Additional Clinical Considerations
A positive family history may not always be present for autosomal recessive conditions, even when there is a high carrier frequency in the Ashkenazi population. Therefore, carrier screening should be offered to those who identify as having Eastern European Jewish/Ashkenazi ancestry. Guidelines have tended toward genetic screening for conditions that have a high carrier frequency in this population. However, due to technological advances, more disorders have been added to genetic screening panels and while some diseases have relatively high carrier rates, others may be less frequent but are considered severe conditions.
Informed consent for genetic testing at a minimum should include
When both partners are identified as carriers, there is a 25% chance that the fetus is carrying both mutations
Testing for those of Jewish but non-Ashkenazi heritage
SMA variant in the Ashkenazi Jewish population
ACOG Committee Opinion 690: Carrier Screening for Genetic Conditions
ACOG Committee Opinion 691: Carrier Screening in the Age of Genomic Medicine
Expanded Carrier Screening in Reproductive Medicine—Points to Consider: A Joint Statement of the ACMG, ACOG, NSGC, PQF, and SMFM
ACMG Practice Guidelines : Carrier Screening in Individuals of Ashkenazi Jewish Descent
An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy
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This educational activity may contain discussion of published and/or investigational uses of agents that are not indicated by the FDA. The planners of this activity do not recommend the use of any agent outside of the labeled indications.
The opinions expressed in the educational activity are those of the faculty and do not necessarily represent the views of the planners. Please refer to the official prescribing information for each product for discussion of approved indications, contraindications, and warnings.
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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