ACMG Sessions

Thursday, March 20

Time: 11:00 am – 11: 45 am
Location: Learning Lounge

The PEARL Trial: PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders

POSTERS

Time: 10:30 am – 11:30 am
Location: Exhibit Hall

(P555) Prenatal Genomic Testing and Abortion: Parental Perspectives in the Context of a Fetal Structural Anomaly
Nuriye Nalan Sahin Hodoglugil, DrPH, Fetal Sequencing Program Manager, University of California, San Francisco, Nuriye Nalan Sahin Hodoglugil, DrPH, Katie Tick, MPH, Billie R. Lianoglou, MS, Julia EH. Brown, PhD, Emma Canepa, MS, Leah Biruk, BA, Ashlee Osborne, BA, Sevval Memecan, Medical Student, Mary E. Norton, MD, Teresa N. Sparks, MD, MAS, FACMG, FACOG

(P833) Persistent clenched hands with or without adducted thumbs, a fetal ultrasound finding in neuronopathic Gaucher disease
Billie R. Lianoglou, MS, Genetic Counselor, Center for Maternal-Fetal Precision Medicine, Marjorie Treadwell, MD, Teresa N. Sparks, MD, MAS, FACMG, FACOG, Juan Gonzalez-Velez, MD, MS, PhD, Dawn Gano, MD MAS, Akos Herzeg, MD PhD MBA, Emma Canepa, MS, Paul R. Harmatz, MD, Irene Chang, MD, Tippi MacKenzie, MD

Friday, March 21

Time: 5:30 PM -7:00 PM
Location: LACC-515 AB

Laboratory Diagnostic Challenges: Constitutional and Neoplastic Cases in Molecular, Cytogenomic, and Biochemical Genetics Specialties
Case 6: Mosaic genome-wide paternal uniparental disomy – A prenatal diagnostic quagmire with a preference for culturing?
Zinandre Stander, PhD, Fellow, Mayo Clinic, Anna A. Essendrup, MS, CGC, Huong T. Cabral, MS, CGC, Kyle Heraty, MS, LCGC, Katherine Swanson, MD, Ross A. Rowsey, PhD, FACMG, Kandelaria M. Rumilla, MD, Nicole L. Hoppman, PhD, FACMG, Zinandre Stander, PhD

POSTERS

Time: 10:30 am – 11:30 am
Location: Exhibit Hall

(P718) Mucopolysaccharidosis Type VII (MPS VII): A locus-specific database of GUSB gene variants, genotypes and phenotypes
Sean Daugherty, MS, Ultragenyx Pharmaceutical Inc., Takashi Hamazaki, MD, Madhuri Hegde, PhD, FACMG, Roberto Giuliani, MD, Tippi MacKenzie, MD, Lisa Dilworth, MD, Mark J. Kiel, MD PhD, Omid K. Japalaghi, MS, Billie R. Lianoglou, MS, Lawrence Merritt, MD, Tatiele Nalin, MD, VIKRAM PANSARE, PhD, Laura Pollard, PhD, FACMG, Heather Richbourg, PhD, Teresa N. Sparks, MD, MAS, FACMG, FACOG, Nicole Miller, PhD, Vanessa Rangel Miller, MS, MBA, CGC

(P860) Prenatally Diagnosed Beare-Stevenson Cutis Gyrata Syndrome with a Novel Variant
Haley M. Crane, MS, LCGC, Genetic Counselor, Richard D. Wood Jr. Center for Fetal Diagnosis & Treatment, Haley M. Crane, MS, LCGC, Rose Giardine, MS, LCGC, Lisa Pilchman, MS, LCGC, Renee Wright, MS, LCGC, Kathleen Gianforcaro, MS, LCGC, Gabrielle Eisenberg, MS, LCGC, Alanna Strong, MD, PhD, K. Taylor Wild, MD, Elaine H. Zackai, MD, Lorraine Dugoff, MD, Teresa N. Sparks, MD, MAS, FACMG, FACOG, Beverly Coleman, MD, FACR, Julie Moldenhauer, MD, FACOG, FACMG