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Advances in Prenatal Molecular Diagnostics Conference

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2014 Prenatal Diagnostics Europe 

First Announcement and Call for Speaker Proposals 

The field of prenatal diagnostics is undergoing rapid and significant change, as a variety of molecular diagnostics are transforming the type and quality of data that can be provided to pregnant women and their physicians.  While array-based cytogenetic analysis can provide more detailed and accurate assessment of many genetic conditions when compared with traditional karyotyping, both methods rely on samples obtained using invasive procedures.  Since obtaining samples invasively, even in the most proficient hands, does involve some risk to the fetus, there has been tremendous interest in non-invasive testing approaches.  Next-gen sequencing of cell-free DNA found in maternal blood has been demonstrated to provide highly accurate assessment of fetal aneuploidies, with quite low false positives and false negatives, in most cases.  Best practice guidelines have been modified quite quickly to recommend that such testing be offered to women who are at increased risk of aneuploidies, either because of past history, advanced maternal age or other reasons, and adoption and agreement by insurers to cover such testing has occurred at unprecedented speed.  These tests are not without controversy, however, because they only test for the most common chromosome duplications, and are unable thus far to provide analysis of smaller genetic insertions, deletions and rearrangements.  One alternative approach has been research on obtaining circulating fetal cells from maternal blood, which would offer the advantages of being non-invasive, and isolated from confounding maternal DNA, but the challenges of reliably obtaining such rare cells has delayed the prospects for commercialization. 

This conference provides an in-depth examination of these and other key issues, technical and practical developments, and opportunities for discussing some of the issues that will have an impact on how this field continues to quickly evolve in the near future.

Coverage may include, but is not limited to:  

  • Analysis for array-based cytogenetic analysis
  • Clinical validation and comparisons of cytogenetic results to karyotyping
  • Performance and limitations of sequenced-based cell-free DNA diagnostics
  • Prospects for more detailed genetic analysis with cell-free DNA sequencing
  • Pros and cons of offering cell-free DNA testing for lower-risk pregnancies
  • Single cell amplification and sequencing for prenatal diagnostics
  • Sample prep advances related to prenatal molecular diagnostics
  • Progress with microfabricated devices for fetal cell isolation
  • Challenges with fetal cell isolation and analysis
  • Changes in medical guidelines for high risk and general pregnancy diagnostics
  • Regulatory challenges for sequence-based diagnostics
  • Practical clinical perspective of changes with prenatal diagnostics
  • Experiences and concerns related to genetic counseling in a prenatal setting
  • Outlook for future technical advances in prenatal molecular diagnostics

If you are interested in being considered for a presentation, please click here to submit a speaking proposal for review. Deadline for submission is April 18, 2014.

All proposals are subject to review by the Scientific Advisory Committee to ensure the highest quality of the conference program. 

For more details on the conference, please contact:
Phillips Kuhl
Cambridge Healthtech Institute
T: 781-972-5410

For exhibit & sponsorship opportunities, please contact:
Jay Mulhern
Manager of Business Development
Cambridge Healthtech Institute
T:  781-972-1359


Arthur BeaudetArthur L. Beaudet M.D. 

Chair, Department of Molecular & Human Genetics

Baylor College of Medicine

Diana BianchiDiana W. Bianchi, M.D. 

Executive Director, Mother Infant Research Institute, and Professor of Pediatrics, Obstetrics and Gynecology

Tufts University School of Medicine

Cynthia MortonCynthia Morton, Ph.D. 

Department of Obstetrics Gynecology & Reproductive Medicine, Harvard Medical School; Director, Department of Cytogenetics

Brigham & Women’s Hospital

Joe SimpsonJoe Leigh Simpson, M.D. 

Senior Vice President, Research and Global Programs

March of Dimes Foundation


Ronald WapnerRonald J. Wapner, M.D. 

Director of Reproductive Genetics and Vice Chair of Research, Department of Obstetrics and Gynecology

Columbia University Medical Center



Video Presentations

Available below are three video streams from the 2013 event:

Prenatal Genetic Diagnosis: Balancing the Options

Ronald J. WapnerRonald J. Wapner, M.D., Director, Reproductive Genetics; Vice Chair of Research, Department of Obstetrics and Gynecology, Columbia University Medical Center

Stream Video 


Prenatal Counseling Issues Regarding CNVs: Clinical Variability and "Incomplete Penetrance"

David LedbetterDavid Ledbetter, Ph.D., FACMG, Executive Vice President and CSO, Geisinger Health System

Stream Video 


Thinking about Selecting between Cell-Free and Fetal Cell Analysis, Now and in the Future

Joe Leigh SimpsonJoe Leigh Simpson, M.D., Senior Vice President, Research and Global Programs, March of Dimes Foundation

Stream Video 


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