SC 17: Chromosomal Mosaicism in Humans: Clinical implications for Preimplantation Genetic Screening, Prenatal Diagnosis and Non-Invasive Prenatal Testing
Thursday August 17 DINNER | 5:00 – 7:30 pm

Brynn Levy, Professor, Pathology & Cell Biology at CUMC; Director, Clinical Cytogenetics Laboratory; Co-Director, Division of Personalized Genomic Medicine, College of Physicians and Surgeons, Columbia University Medical Center, and the New York Presbyterian Hospital

David Keefe, MD, Stanley H. Kaplan Professor, Chair of Obstetrics and Gynecology; Obstetrics and Gynecology and Cell Biology, NYU School of Medicine

With advances in genomic technologies and their introduction into reproductive medicine diagnostics, there is an increased awareness of chromosomal mosaicism in the context of the human embryo and fetus. This course will cover the origins and mechanisms of mitotic and meiotic mosaicism and discuss its clinical impact from the preconception period through the pregnancy. The course will address how we can leverage what we have learned about mosaicism from over 40 years of cytogenetic testing in the prenatal and postnatal period and apply it to new technologies in PGS and cfDNA testing. Cases will be used to illustrate management considerations.

Learning Objectives:

• Describe the mechanisms and origins of chromosomal mosaicism in humans
• Describe the prevalence of chromosomal mosaicism in prenatal specimens
• Explain the differences between true fetal mosaicism, confined placental mosaicism and pseudomosaicism.
• Describe the challenges of case management and counseling when encountering chromosomal mosaicism at the time of PGS, CVS and amniocentesis.
• Clinical case examples with ethical considerations associated with the detection of chromosomal mosaicism throughout the reproductive health continuum.

5:00 Course Begins

6:00 Dinner Buffet

6:30 Course Resumes

7:30 End of Course

Brynn Levy, Professor, Pathology & Cell Biology at CUMC; Director, Clinical Cytogenetics Laboratory; Co-Director, Division of Personalized Genomic Medicine, College of Physicians and Surgeons, Columbia University Medical Center, and the New York Presbyterian Hospital

Brynn Levy, M.Sc. (Med), Ph.D. is a Professor of Pathology and Cell Biology at the Columbia University Medical Center. He is also the Director of the Clinical Cytogenetics Laboratory of the New York Presbyterian Hospital, a Co-Director of the Division of Personalized Genomic in the Department of Pathology & Cell Biology and the Director of the Preimpantation Genetics Diagnostic (PGD) laboratory at the Foundation for the Assessment & Enhancement of Embryonic Competence. Dr. Levy is regarded internationally as an expert in the clinical utility of genomic technologies in reproductive medicine. He has authored multiple book chapters and publications on molecular genetics, clinical cytogenetics and molecular cytogenetics and lectured internationally about his experience utilizing CGH and high resolution SNP microarrays both as a clinical and research tool. His research areas of interest include early prenatal screening using fetal cells and cell-free fetal DNA from maternal circulation, PGD and the etiology of recurrent miscarriage. Dr. Levy was a Co-Investigator of the Multicenter NICHD study that investigated the use of microarrays for prenatal diagnosis and was the Columbia University site Principal Investigator of a NIH-funded study from the Stillbirth Collaborative Research Network (SCRN) that assessed CNVs in stillbirths. Dr. Levy is the past President of the Cancer Genomics Consortium (GCC) and was the PI at Columbia University Medical Center for the GCG Multi-center Quality Control trial that performed cross-platform validation of cytogenomic arrays for cancer diagnostics.

David Keefe, MD, Stanley H. Kaplan Professor, Chair of Obstetrics and Gynecology; Obstetrics and Gynecology and Cell Biology, NYU School of Medicine

Dr. Keefe is a physician-scientist whose research focusing on egg infertility, reproductive aging and stem cells has received funding from the National Institutes of Health (NIH), the American Society for Reproductive Medicine (ASRM), and the King Foundation. His research has also been awarded several U.S. patents and his work has been presented to peers both nationally and internationally. As an award-winning teacher and researcher, Dr. Keefe has published extensively with more than 150 papers and abstracts in publication. He has won the ASRM General Program, Society for Assisted Reproductive Technology and New England Fertility Society Prize Paper Awards. Dr. Keefe is also a long-time participant in a number of key professional associations, has served as the Scientific Chair of the Annual Meeting of the American Society for Reproductive Medicine, on the Board of Resolve and the Editorial Boards of the journals Human Reproduction and the Journal of Assisted Reproductive Technology and Genetics, and as a reviewer for such publications as the American Journal of Obstetrics & Gynecology and the New England Journal of Medicine. His clinical practice focuses on the diagnosis and treatment of infertility, including in vitro fertilization (IVF).