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. Array-based cytogenetic analysis can provide more detailed and accurate assessment of many genetic conditions compared with traditional karyotyping, both of which 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. Such 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 will provide an in-depth examination of key issues, technical and practical developments in these areas, 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. The deadline to submit a proposal is May 6.

Click here to submit your Speaker Proposal  

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


Program Advisors

arthur_beaudetArthur Beaudet,
M.D., Chair, Department of Molecular
& Human Genetics, Baylor College of Medicine

Cynthia_MortonCynthia Morton,
Ph.D., Department of Obstetrics Gynecology & Reproductive Medicine, Harvard Medical School and Director, Department of Cytogenetics, Brigham & Women’s Hospital

Joe_SimpsoCamera Icon PNDXJoe Leigh Simpson,
M.D., Senior Vice President for Research & Global Programs, March of Dimes Foundation

Ronald_WapnerCamera Icon PNDXRonald J. Wapner,
M.D., Director of Reproductive Genetics and Vice Chair of Research, Department of Obstetrics and Gynecology, Columbia University Medical Center

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