OasisLMS

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)

Tuesday, June 16, 2026 | 2:00 – 3:00 pm ET

1.0 AMA PRA Category 1 Credits™ and P.A.C.E.^®

Credit Claiming by July 28, 2026

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.

Learning Objectives

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

1. 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.
2. 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.
3. Apply optimal workflows when managing complex or discordant cfDNA results and selecting confirmatory diagnostic testing strategies appropriate to the clinical context.

 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

• 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

Accredited Continuing Education Information

AMA PRA Category 1 Credit^TM, ASCLS 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 live activity 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.

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 0.10 P.A.C.E.® CEU's.

Claiming your Educational Credits

Complete the activity and carefully complete the evaluation form. The deadline to claim educational credits is within 30 days from the date of the activity. Educational credit requests after this date will not be accepted.

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.