Updates in Prenatal Genetic Screening and Testing
Speaker:
Jillian Buchan, MS, PhD, FACMG, Teodora Kolarova, MD, FACOG, FACMG, Assistant Professor, Department of Laboratory Medicine & Pathology, Associate Director, Genetics & Solid Tumor, University of Washington; Assistant Professor, Maternal Fetal Medicine - Medical Genetics, Department of Obstetrics and Gynecology, University of Washington
Contact Hours:
1.0
Date:
September 15, 2026 - September 30, 2027
Description:
Prenatal cell free DNA (cfDNA) screening has become the preferred screening methodology for the common aneuploidies in pregnancy due to its lower false positive rate and higher detection rate. With technological advances, cfDNA screening has expanded beyond the common aneuploidies and rapidly integrated into clinical care, at times preceding standardized guidance and diagnostic workflows. This session reviews changes in the diagnostic testing paradigm and addresses special challenges and considerations of prenatal whole exome/genome sequencing.
Learning Objectives:
- Describe current prenatal genetic screening modalities and professional society guidance surrounding screening and diagnostic testing.
- Evaluate the capabilities, benefits, and limitations of cfDNA screening for sex chromosome aneuploidies, rare autosomal trisomies, copy-number variants, and single-gene disorders, including potential causes of discordant results.
- Identify indications for prenatal diagnostic testing and compare the clinical applications of different laboratory methods used in achieving prenatal genetic diagnosis including whole exome and genome sequencing.