OasisLMS

Jun 16 - Beyond the Common Aneuploidies: Optimal Diagnostic Workup and Counseling Following Positive cfDNA Screening
An educational offering sponsored by the American College of Medical Genetics and Genomics (ACMG) with contributions from the Association for Diagnostics & Laboratory Medicine (ADLM)

Date of Release: July 30, 2026

Expiration Date: July 30, 2028

Credits offered: 1.0 AMA PRA Category 1 Credits™, P.A.C.E.®

Estimate time of completion: 1 hour

Session Description

Prenatal cell-free DNA (cfDNA) screening has become an important noninvasive method for assessing fetal chromosomal abnormalities and supporting prenatal risk evaluation. This session will provide an overview of interpreting positive cfDNA screening results beyond common aneuploidies, including rare autosomal aneuploidies, sex chromosome conditions, and copy number alterations, while discussing appropriate confirmatory diagnostic testing options. Speakers will also address patient counseling strategies for positive or discordant cfDNA results, including limitations of the technology, positive predictive value considerations, and approaches to diagnostic testing and clinical management.

Course Registration Fees

Learning Objectives

At the conclusion of this activity, participants should be able to:

• Interpret cfDNA screening results beyond common aneuploidies, including the clinical significance of rare autosomal aneuploidies, sex chromosome conditions, and copy number variants, to guide appropriate next steps in prenatal diagnosis.
• Develop counseling strategies for patients and families about the implications of positive cfDNA screening results, including limitations of the technology, positive predictive value considerations, and the role of invasive diagnostic testing.
• Apply optimal workflows when managing complex or discordant cfDNA results and selecting confirmatory diagnostic testing strategies appropriate to the clinical context.
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Target Audience

This activity is designed for clinical geneticists, genetic counselors, laboratory geneticists, maternal-fetal medicine specialists, and other healthcare providers who provide comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.

Agenda

Topic / Session

• Opening Remarks & Introduction — Prenatal cell-free DNA screening for fetal chromosome abnormalities
• Session— Beyond common autosomal aneuploidies: case presentations with optimal diagnostic testing workflow and genetic counseling
• Closing Remarks – Clinical Utility, Challenges, and Future

Meet the Faculty

Yoshiko Mito, PhD, FACMG

Clinical Associate Professor

Director of Cytogenetics and Clinical Genomics Laboratories

Department of Laboratory Medicine and Pathology

University of Washington Medicine

Teodora Kolarova, MD

Assistant Professor

Division of Maternal Fetal Medicine

Department of Obstetrics & Gynecology

University of Washington Medicine

Erin S. Oehler, MS, CGC
Licensed Genetic Counselor

Genetic Counselor, Supervisor

Maternal Infant Care Center & Prenatal Diagnosis Clinic
University of Washington Medical Center

Planners

Henry J. Mroczkowski, MD, PhD, FACMG (Chair)

University of TN Health Science Ctr

Mari Mori, MD, MS, FACMG

The Ohio State University

Georgianne L. Arnold, MD, FACMG

University of Pittsburgh

Roya M. Mostafavi, MGC

University of Washington School of Medicine

Catherine A. Ziats, MD, FACMG

Cook Children's

Damara Ortiz, MD, FACMG

Children's Hospital of Pittsburgh of UPMC

Daniel Schecter, MD, MS

Mount Sinai School of Medicine

Staff

Jane Radford, MHA, CHCP

Senior Director of Education - ACMG

Accredited Continuing Education Information:

AMA PRA Category 1 Credits™, P.A.C.E.®

Accreditation

The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Credit Designation
The American College of Medical Genetics and Genomics designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

The American Medical Association (AMA) defines physicians as those individuals who have obtained an MD, DO, or equivalent medical degree from another country. Non-physicians may request a certificate of attendance for their participation.

ASCLS P.A.C.E.® CEU's 

ACMG is approved as a provider of continuing education programs in the clinical laboratory sciences by the American Society for Clinical Laboratory Science (ASCLS) Professional Acknowledgment for Continuing Education (P.A.C.E.®) Program.

ACMG is approved by the Florida Board of Clinical Laboratory Personnel as CE Provider (50-11878). ACMG is approved by the California Department of Health Services through the ASCLS P.A.C.E.® (275-200-26-04). This activity has been approved for 0.1 P.A.C.E.® CEU's.

Claiming your Educational Credits

This activity consists of: View content, take a post-test, the test may be taken as often as necessary to achieve a passing score of 80% or better is required to receive credit.  If you do not achieve a passing score, the program will identify which questions you answered incorrectly so that you can review the module and try again. Complete the evaluation form.

Learner Data Consent

ACMG Education reports learner data to respective agency boards and you will be asked for consent during the evaluation process. Your compliance with deadlines and completing evaluations are part of the process in meeting learner needs and ACMG’s education mission.

Technical Support:
You can reach us by email at education@acmg.net or call 301-718-9603.
Support Center Hours: Monday – Friday, 9:00 AM – 5:00 PM Eastern Time.

Accredited Continuing Education Financial Disclosure

The American College of Medical Genetics and Genomics (ACMG) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide Accredited Continuing Education (ACE) for physicians. ACMG is an organization committed to improvement of patient care and general health by the incorporation of genetics and genomics into clinical practice.

ACMG has implemented the following procedures to ensure the independence of ACE activities from commercial influence/promotional bias, the Accreditation Council for Continuing Medical Education (ACCME) requires that providers (ACMG) must be able to demonstrate that: 1) everyone in a position to control the content of an ACE activity has disclosed all financial relationships that they have had in the past 24 months with ineligible* companies; 2) ACMG has implemented a mechanism to mitigate relevant financial relationships; and 3) all financial relationships with ineligible companies are disclosed to the learners before the beginning of the educational activity. The learners must also be informed if no relevant financial relationships exist.

*Ineligible companies are defined as those whose primary business is producing, marketing, selling, re-selling, or distributing healthcare products used by or on patients.

All relevant financial relationships listed have been mitigated.

Disclaimer

ACMG educational programs are designed primarily as an educational tool for healthcare professionals who wish to increase their understanding of the application of genomic technologies to patient care. The ACMG does not endorse or recommend the use of this educational program to make patient diagnoses, particular by individuals not trained in medical genetics. Adherence to the information provided in these programs does not necessarily ensure a successful diagnostic outcome. The program should not be considered inclusive of all proper procedures and or exclusive of other procedures and that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or, a healthcare professional should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.

Questions regarding CE credit should be directed to education@acmg.net