Program
Registration
- REGISTRATION OF THE PARTICIPANTS / Archbishop´s Palace:
- 25. 10. 2012: 1200–1800
- 26. 10. 2012: 800–1400
- INSTALLATION OF EXHIBITION STANDS
- 25. 10. 2012: 1000–1800
- 26. 10. 2012: 800–900
- BOARD:
- Welcome party is on October 25, 2012
in the atrium of Palacký University Arts Centre/Konvikt, Univerzitní str. 3-5, Olomouc - Lunch will be given on October 26, 2012
at the St. Wenceslas brewery , Křížkovského 3, Olomouc ( close to the conference venue).
Thursday, October 25, 2012
- 14:00-14:15
Opening ceremony
Ishraq Dhaifalah, Jiri Santavy, Milan Kolar, Roman Havlik
- Chairs: Howard Cuckle, Jiri Santavy, Jadranka Jovanovic
- 14:15-15:00
Circulating fetal DNA-based non-invasive prenatal testing:
state-of-the-art and future prospects
Dennis Lo
Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China. - 15:00-15:20
Invasive prenatal diagnosis
Peter Benn
Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT, USA - 15:20-15:40
Aneuploidy screening
Howard Cuckle
Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA
15:40-16:00
Coffee/tea break
- Chairs: Peter Benn, Balint Nagy, Tatjana Zolotukhina
- 16.00-16:20
Overview of NIPT methods for aneuploidy
Peter Benn
Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT, USA - 16:20-16:40
Current options of non-invasive prenatal diagnosis based on the presence of extracelullar nucleic acids in maternal circulation in Czech Republic
Ilona Hromadnikova
Charles University in Prague, Third Faculty of Medicine, Department of Molecular Biology and Cell Pathology, Prague, Czech Republic - 16:40-17:00
Single molecule sequencing of free DNA from maternal plasma for non-invasive trisomy 21 detection
Elles M. J. Boon
Department of Clinical Genetics, Laboratory for Diagnostic Genome Analysis, Leiden University, Leiden, Netherlands - 17:00-17:15
Non-invasive detection of fetal aneuploidies using a novel highly multiplexed SNP targeted sequencing approach
Lech Dudarewicz, Bernard Zimmermann, Matthew Rabinowitz,
Polish Mother’s Memorial Hospital, Research Institute, Lodz, Poland - 17:15-17:30
Chromosome 21 related miRNA expression in Down syndrome pregnancies
Levente Lazar, Janos Rigo Jr., Balint Nagy
1st Dept. of Obstetrics and Gyenecology, Semmelweis University, Budapest, Hungary - 17:30-17:45
The use of fetal mRNA of placenta origin for diagnostic purpose
Tatjana Zolotukhina, Nadezda Shilova, Ekaterina Manuylova, Yuri Seregin, Zhanna Markova
Research Center for Medical Genetics under RAMS, Moscow, Russia - 17:45 – 18:00
Potential of cff NA testing in a „small house“
Radek Vodicka, Radek Vrtel, Jana Böhmova, Romana Kratochvilova, Ladislav Dusek, Marek Lubusky, Ishraq Dhaifalah and Jiri Santavy Dept. of Medical Genetics and Fetal Medicine, University Hospital and Faculty of Medicine UP, Olomouc, Czech Republic
19:00–19.30
Baroque concert – at the chapel of Palacký University Arts Centre/Konvikt
19:30–24.00
Welcome party – in the atrium of Palacký University Arts Centre/Konvikt
Friday, October 26, 2012
- Chairs: Dennis Lo, Ishraq Dhaifalah, Vedrana Skaro
- 9:00–9:30
Fetal genome sequencing from maternal plasma
Dennis Lo
Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China. - 9:30 – 9:50
Meta-analysis of NIPT aneuploidy
Howard Cuckle
Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA - 9:50 – 10:10
Limitations to NIPT for aneuploidy
Peter Benn
Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT, USA - 10:10- 10:30
A national validation and implementation study for Non Invasive Trisomy Testing within the Netherlands
Elles Boon
Department of Clinical Genetics, Laboratory for Diagnostic Genome Analysis, Leiden University, Leiden, Netherlands - 10:30- 11:00
The Application of the HiSeq 2500 Platform to Non-Invasive Prenatal Testing
Jacqueline Weir
Illumina Ltd UK, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex, UK
11:00–11:30
Coffee/tea break
- Chairs: Gulshara Abildinova, Ilona Hromadnikova, Gabriel Minarik
- 11:30–11:45
Accuracy of fetal gender determination by analysis of cell-free fetal DNA in maternal plasma
Nadezda Shilova, Zhanna Markova, Tatjana Zolotukhina
Research Center for Medical Genetics under RAMS, Moscow, Russia - 11:45–12:00
Noninvasive fetal sex determination using cell-free fetal DNA in families with X-linked diseases
Jasenka Wagner, Ana Vicic, Feodora Stipoljev
Strossmayer University, Faculty of Medicine, Osijek, Croatia - 12:00–12:15
Our experience in non-invasive prenatal paternity testing
Vedrana Skaro, Petar Projic, Gordan Lauc
DNA laboratory, Genos Ltd., Zagreb, Croatia - 12:15–12:30
Extracellular nucleic acids in maternal circulation as potential biomarkers for placental insufficiency
Ilona Hromadnikova
Charles University in Prague, Third Faculty of Medicine, Department of Molecular Biology and Cell Pathology, Prague, Czech Republic - 12:30–12:45
Noninvasive genotyping of fetal blood cell antigens encoded by SNP using RQ-PCR
Katarzyna Guz, Agnieszka Orzinska, Izabela Kopec, Marzena, Debska, Ewa Brojer
Department of Immunohematology and Immunology of Transfusion Medicine, Institute of Hematology and Transfusion Medicine, Warsaw, Poland - 12:45–13:00
Noninvasive prenatal diagnostics of RhD gene using cell-free fetal DNA in maternal blood
Gulshara Abildinova, Mirgul Bayanova, Bakytgul Kamaliyeva
Medical Genetics Laboratory, National Research Center Maternal and Child Health, Astana, Kazakhstan
13:00–14:00
Lunch break, St. Wenceslas brewery
- Chairs: Milan Macek, Zora Lasabova, Radek Vrtel
- 14:00–14:15
Our experience with the prediction of fetal RhD in maternal plasma of RhD-negative women from the region of Nothern Slovakia
Zora Lasabova, Iveta Svecova, Irena Hudecova, Andrea Mendelova, Miroslav Hasko, Miroslava Telkova, Jan Danko
Department of Molecular Biology, Comenius University, Jessenius Faculty of Medicine, Martin, Slovakia - 14:15–14:30
Optimization of noninvasive fetal RhD genotyping
Agnieszka Orzinska, Katarzyna Guz, Ewa Brojer
Department of Immunohematology and Immunology of Transfusion Medicine, Institute of Hematology and Transfusion Medicine, Warsaw, Poland - 14:30–14:45
Optimization of isolation of cell-free fetal DNA from plasma of pregnant women
Gabriela Repiska, Tatiana Sedlackova, Gabriel Minarik
Institute of Molecular Biomedicine, Comenius University in Bratislava, Faculty of Medicine, Bratislava, Slovakia - 14:45–15:00
Concentration of circulating nucleic acid using various methods affects the performance of fetus specific Y-STR profiling from maternal plasma
Gabriel Minarik, Gabriela Repiska, Tatiana Sedlackova, Tomas Szemes
GENETON s.r.o., Bratislava, Slovakia - 15:00–15:15
Non-Invasive Prenatal Testing: Advances in technology and clinical implications
Amy J. Sehnert
Verinata Health, Inc., Redwood City, CA - 15:15–15:30
Non-invasive prenatal testing of fetal trisomy 21 using massively parallel sequencing: a European Collaborative Study
Sebastian Grömminger, Markus Stumm, Michael Entezami, Karsten Haug, Cornelia Blank, Max Wüstemann, Bernt Schulze, Gisela Raabe-Meyer, Maja Hempel, Sabine Langer-Freitag, Markus Schelling, Eva Ostermayer, Tilo Burkhardt, Roland Zimmermann, Martina Beck, Tina Schleicher, Yadhu Kumar, Wera Hofmann
LifeCodexx AG, Konstanz, Germany
15:40-16:00
Coffee/tea break
- Chairs: Howard Cuckle, Lech Dudarewicz, Vaclava Curtisova
- 16:00–16:15
Non-informative results and quality assurance
Peter Benn
Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT, US - 16:15–16:30
Clinical implementation of non invasive prenatal diagnosis for single gene disorders
Fiona McKay, Angela Barrett, Sarah Fielding, Nicholas Lench, Lyn Chitty
NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom - 16:30–16:45
Exploring service user and provider views and preference for the implementation of non invasive prenatal testing
Melissa Hill, Celine Lewis, Caroline Silcock, Madhavi Karunaratna, Frida Forya, Kerry Oxenford, Heather Skirton, Lyn Chitty
Clinical and Molecular Genetics, and Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom - 16:45–17:05
Combining NIPT with established screening: financial and other benefits
Howard Cuckle
Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA - 17:05–17:50
Implementation problems – panel discussion
Dennis Lo, Howard Cuckle, Peter Benn, Milan Macek, Lech Dudarewitz, Ishraq Dhaifalah
17:50–18:00
Closing session