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Preconference Courses: Sunday, 11 JuLY 2010
Morning Courses: 9 am – 1 pm
Genetics 101: Practical advances in clinical genetic testing
Course Organizer: Diana Bianchi, MD
“A case-based approach to genetic diagnostics in 2010”
Laurie Demmer, MD, Tufts University School of Medicine, Boston, MA, USA
“Introduction to DNA microarrays”
Lisa Shaffer, PhD, Signature Genomics, Spokane, WA, USA
“What’s new with the ‘diagnosis’ in preimplantation genetic diagnosis”
Joyce Harper, PhD, University College London, UK
“Current and future recommendations regarding pre-conceptual and prenatal screening for single gene disorders”
Yuval Yaron, MD, Director, Prenatal Diagnosis Unit, Genetic Institute, Tel Aviv Sourasky Medical Center, Israel
Maternal Screening: Advances, refinements and the future of maternal screening
Course Organizers: Tak Yeung Leung, Peter Benn and Peter Schielen
Session 1
“Guidelines and standards for screening”
Peter Benn, UCONN Health Center, Farmington, CT, USA
“QC and QA for NT, other ultrasound and serum markers”
Mark Evans, MD, Comprehensive Genetics, New York, NY, USA
“New serum markers for aneuploidy, NTD, and other fetal abnormalities”
Wendy Koster, University Medical Centre of Utrecht, Bilthoven, Netherlands
“Diagnosis of rare disorders identified through screening”
Richard Choy, Prince of Wales Hospital, Hong Kong
Session 2
“Screening of pre-eclampsia”
Howard Cuckle, DPhil, Columbia University Medical Center, New York, USA
“Repeat measures and highly correlated markers”
David Wright, University of Plymouth, Plymouth, UK
“Will non-invasive prenatal diagnosis replace screening?”
Tak Yeung Leung, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong
Discussion
Afternoon Courses: 2 – 6 pm
Non-invasive prenatal diagnosis using cell free fetal nucleic acids: Laboratory aspects and clinical implementation
Course Organizer: Lyn Chitty, PhD
“Introduction and Welcome”
Lyn Chitty, PhD, UCL Institute of Child Health, London, UK
“Non-invasive prenatal diagnosis using cell free fetal nucleic – technical aspects”
Bernhard Zimmerman, Fluidigm, South San Francisco, CA, USA
“Optimising extraction of cffDNA”
Martin Horlitz, Qiagen, Hilden, Germany
“Non-invasive prenatal diagnosis for RH, Kell and other blood types”
Ellen van der Schoot, Sanguin Research, Academic Medical Centre, Amsterdam, Netherlands
“Non-invasive prenatal diagnosis for genetic conditions – current clinical practice”
Lyn Chitty, PhD, UCL Institute of Child Health, London, UK
“Non-invasive prenatal diagnosis of aneuploidy: Technical considerations”
Rossa Chiu, Chinese University of Hong Kong, Hong Kong
“Direct-to-consumer testing using cell-free nucleic acids in maternal blood”
Diana Bianchi, MD, Tufts University, Boston, MA, USA
General Discussion
Prenatal ultrasound update
Course Organizers: Anthony Odibo, MD, Antoni Borrell, MD
“Introduction”
Antoni Borrell, MD, University of Barcelona Medical School, Barcelona, Spain
“First trimester ultrasound: beyond aneuploidy screening?”
Katia Bilardo, Fetal Medicine Unit Academic Medical Centre, Amsterdam, Netherlands
“Role of second-trimester ultrasound in an era of universal first-trimester screening”
Anthony Odibo, MD, Washington University Medical Center, St. Louis, MO, USA
“Update on 3-D ultrasound in fetal cardiac evaluation”
Monique Haak, VU University Medical Center, Amsterdam, Netherlands
Round Table Discussion
Fetal Therapy: Fetal Cardiac Interventions
Course Organizers: Dick Oepkes, MD, Roland Devlieger, MD
“Why fetal cardiac interventions?”
Anita J. Moon-Grady, MD, University of California San Francisco
“The Boston experience”
Louise Wilkins-Haug, MD, Brigham and Women’s Hospital, Boston, MA, USA and Wayne Tworetzky
“The Linz experience”
Wolfgang Arzt
“Other centers’ experience (Toronto, Buenos Aires, San Francisco, others)"
“In utero intervention for fetal cardiac anomalies”
“Fetal balloon valvuloplasty since 2000; experience of the world’s largest centers”
“Expert forum, short introductory presentation and discussion round table”
- Patient selection: which anomalies, inclusion and exclusion criteria, when best to perform an intervention?
- Techniques, instruments, fetal and maternal anesthesia, is laparotomy acceptable, new developments?
- Ethical aspects, acceptability of hazardous interventions for non-lethal anomalies, treatment within or also outside a formal trial?
- Centralization: one center per country, more or even less?
- International collaboration, prospective registry, trials?
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