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Prenatal Cell-free DNA Screening

Hosted by American Society of Human Genetics in collaboration with Mayo Clinic 
Registration and course are free for everyone.
$20 fee applies for CME credit

Date of Release: 7/24/17
Expiration Date:  7/23/20
Estimated Time of Entire Program: 1 hour

Course Description
Prenatal cell-free DNA screening (or cfDNA screening, often referred to as NIPT or noninvasive prenatal testing) is an increasingly popular and valuable tool for health professionals in obstetrics and gynecology, but proper clinical implementation is complex. In this three-module, hybrid-learning course, you will learn the benefits and limitations of prenatal cfDNA screening, how to interpret test results, and how to communicate with and manage patients who are considering cfDNA testing.

Target Audience
Obstetricians, nurses, and all medical practitioners who work with pregnant women to provide and/or discuss prenatal screening and testing

Program Learning Objectives
At the conclusion of this three-part series, participants will:
•  Explain the benefits and limitations of prenatal cfDNA screening
•  Describe how to facilitate informed consent about prenatal cfDNA
•  Interpret the results of prenatal cfDNA screening tests to appropriately manage patients
•  Summarize the practical issues (costs, consent, and lab-specific) related to the use of cfDNA screening in practice

Module Learning Objectives

Part 1:
Pre-test visit
Part 2:
Interpreting test results
Part 3:
Post- test counseling
At the end of this program, participants will be able to: 
At the end of this program, participants will be able to:
At the end of this program, participants will be able to:
a. explain cfDNA screening to patients and how it is used to screen for risk of chromosome abnormalities a. explain the accuracy of cfDNA screening for common trisomies, sex chromosome aneuploidies, and other conditions such as microdeletion syndromes 
a. answer patients' questions about cfDNA test parameters, such as accuracy, and benefits and limitations of the test in high- and average-risk women
b. recognize when the use of cfDNA screening is appropriate 
b. define sensitivity and specificity in the context of cfDNA screening b. describe to patients the meaning of positive, negative, and no-call results and possible reasons for false positive and false negative results
c. distinguish cfDNA screening from other prenatal screening and diagnostic tests 
c. list the reasons for false positive, false negative, and indeterminate resultsc. communicate risk 'in context' and manage patients appropriately
d. communicate the benefits and limitations of cfDNA screening and the types of test results possible 
d. describe how PPV and NPV impact the interpretation of results in both high- and average-risk women
e. discuss future applications of cfDNA testing and its potential impact on obstetric care

Content Validation and Fair Balance
1. ASHG follows the ACCME policy on Content Validation for CME activities, which requires: a) All recommendations involving clinical medicine must be based on evidence that is accepted within the profession of medicine as adequate justification for their indications and contraindications in the care of patients; b) All scientific research referred to, reported or used in CME in support or justification of patient care recommendations must conform to the generally accepted standards of experimental design, data collection and analysis.
2. Activities that fall outside the definition of CME/CE, i.e., “Educational activities that serve to maintain, develop, or increase the knowledge, skills, and professional performance and relationships that a physician uses to provide services for patients, the public, or the profession” (source: ACCME and AMA) will not be certified for credit. CME activities that promote recommendations, treatment, or manners of practicing medicine or pharmacy that are not within the definition of CME/CE, or are known to have risks or dangers that outweigh the benefits, or are known to be ineffective in the treatment of patients will not be certified for credit.
3. Presentations and CME/CE activity materials must give a balanced view of therapeutic options; use of generic names will contribute to this impartiality. If the CME/CE educational materials or content includes trade names, where available, trade names from several companies must be used.

This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of Mayo Clinic College of Medicine and Science and American Society of Human Genetics. The Mayo Clinic College of Medicine and Science is accredited by the ACCME to provide continuing medical education for physicians.

Credit Designation
Mayo Clinic College of Medicine and Science designates this enduring material for a maximum of 1.0 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Disclosure Statement
In accordance with the Accreditation Council for Continuing Medical Education (ACCME) and the policies of the Mayo Clinic and the American Society of Human Genetics (ASHG), speakers and moderators presenting in sessions that offer CME and CEU credit must disclose, prior to the start of their presentations, the existence of any relevant financial interests and/or other relationship(s) they might have with the manufacturer(s) or provider(s) of any commercial product(s) or service(s), including diagnostic laboratories to be discussed during their presentation. All disclosures have been peer reviewed by the CME Subcommittee.

Financial Disclosures

Planning Committee
Nothing to Disclose:
Elizabeth Balkite, MS, CGC, ASHG Information & Education Comm.
Joseph R. Biggio, MD, Ochsner Health Center
Timothy Curry, MD, PhD, Mayo Clinic
Nicole L. Hoppman, PhD, Mayo Clinic
Nina Y. Lee, MD, The Permanente Medical Group, Northern California
Mary E. Norton, MD, University of California, San Francisco, Perinatal Quality Foundation
Nancy Rose, MD, University of Utah, Intermountain Healthcare
Katie Stoll, MS, LGC, Genetic Support Foundation
Content Committee
Nothing to Disclose:
Megan Allyse, PhD, Mayo Clinic
Kimberly Barr, MS, LCGC, The Permanente Medical Group, Northern California
Kristi Borowski, MD, Mayo Clinic
Jeff Greenberg, MS , LCGC, Southern California Permanente Medical Group
Hilary Kershberg, MS, LCGC, Southern California Permanente Medical Group
Laura Rust, MS, CGC, Mayo Clinic
Katelynn Sagaser, MS, CGC, Johns Hopkins
Myra J. Wick, MD, PhD, Mayo Clinic
Staff – American Society of Human Genetics
Nothing to Disclose:
Michael Dougherty, PhD
Karen Hanson, MS, MBA, CGC
Video Actors
Nothing to Disclose:
Leanna Chamish
Melissa LaMartina
Altorro Prince Black

HIPAA Compliance by Speakers and Presenters
ASHG supports medical information privacy. While ASHG is not a “covered entity” under HIPAA 1996 and therefore is not required to meet these standards, ASHG wishes to take reasonable steps to prevent the disclosure of individually identifiable health information. To that end, cases used by presenters will generally contain no individually identifiable health information. In the event such information is unavoidable, presenters were asked either to attest that a HIPAA-compliant consent form is on file at their institution or to send ASHG a copy of the HIPAA compliance form.

ASHG’s educational programs are designed strictly as educational tools for healthcare providers who wish to increase their understanding of how genomic technologies apply to patient care.  ASHG does not endorse or recommend the use of this educational program to make patient diagnoses. Adherence to the information provided in this program does not ensure improved care, and the program should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or test, a healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient.

Commercial Support
This activity is supported in part by unrestricted educational grants made to the ASHG Genomic Medicine Education Consortium, with current members:
•Quest Diagnostics
•Vertex Pharmaceuticals
Consortium members had no influence over the content of the program.

© 2017 American Society of Human Genetics and Mayo Clinic. All rights reserved.

Contact Information:
If you have any questions, please contact ASHG at:
9650 Rockville Pike | Bethesda, MD 20814
Telephone: 301.634.7300 | Fax: 301.634.7079 | E-mail: |