Learning Objectives and CME/Disclosure Information
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. List the common findings associated with 22q11.2 deletion syndrome 2. Discuss the options for prenatal diagnosis when 22q11.2 deletion syndrome is suspected on prenatal ultrasound
Estimated time to complete activity: 0.25 hours
Susan J. Gross, MD, FRCSC, FACOG, FACMG
President and CEO, The ObG Project
Disclosure of Conflicts of Interest
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.
Method of Participation and Request for Credit
Fees for participating and receiving CME credit for this activity are as posted on The ObG Project website. During the period from March 12 2018 through 07/15/2022, 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 post-test and evaluation. Upon registering and successfully completing the post-test with a score of 100% and the activity evaluation, your certificate will be made available immediately.
For Pharmacists: Upon successfully completing the post-test with a score of 100% and the activity evaluation form, transcript information will be sent to the NABP CPE Monitor Service within 4 weeks.
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 0.25 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 0.2 contact hours.
22q11.2 deletion syndrome is referred to by other names in the literature, as well as in clinical reporting:
22q deletion syndrome, DiGeorge syndrome or Velocardiofacial (VCF) syndrome are alternate references
Most common microdeletion syndrome resulting from loss of a small segment of the long arm of chromosome 22
May affect almost every organ system, but the following findings are particularly common and may be identified on prenatal sonogram:
Congenital heart disease (74%): especially those disorders affecting the outflow tracts such as Tetralogy of Fallot (TOF), ventricular septal defect (VSD), interrupted aortic arch and truncus arteriosus
Cleft Palate: when associated with 22q deletion syndrome the roof of the mouth may appear intact
Look for submucosal cleft palate
May not be seen on prenatal ultrasound and may even be missed at birth without careful physical examination
Renal anomalies (31%)
Other findings may not be apparent until postnatal life and may require immediate attention:
Immune deficiency (77%)
Hypocalcemia (50%), which may lead to seizures
Feeding and swallowing problems
In 93% of cases, it is a new occurrence
7% of individuals inherit the deleted chromosome from a parent.
Many cfDNA (NIPS/NIPT) tests may include 22q, but presently ACOG / SMFM do not recommend routine microdeletion screening
Prenatal diagnosis is available using prenatal chromosomal microarray technology
Offer microarray analysis to a patient with a fetus with one or more major structural abnormalities on ultrasound who is undergoing invasive prenatal diagnosis
Microarray analysis can be performed in a patient with a structurally normal fetus who is undergoing invasive prenatal diagnostic testing
Approximately 1/3000 to 1/6000 children are born with this disorder
Prenatal incidence may be higher at 1/1000 to 1/2000
While there may be noticeable characteristic facial features in some affected individuals, this syndrome may be missed at birth and can have life threatening consequences, if undiagnosed
Genetic consultation and multidisciplinary management is advised to maximize beneficial outcome
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Disclosure of Unlabeled Use
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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