2014 Archived Content

Conference Overview


Prenatal diagnostics is undergoing rapid and significant change, as microarrays and next-gen sequencing transform 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, although both approaches currently require invasively-obtained samples.  There has been tremendous interest in non-invasive testing approaches, and 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, and adoption and reimbursement support has been rapid.

Such tests are not without controversy, however, because they only test for the most common chromosome duplications, and are unable thus far to comparable accuracy for 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 key issues, technical, ethical and clinical implantation considerations in these areas, and opportunities for discussing issues that will have an impact on how this field continues to quickly evolve in the near future.

Conference includes:

  • Options and Considerations for Screening and Diagnostics
  • SNP and CGH Arrays & Different Sequencing Approaches
  • Genetic Counseling, Education and Bioethics
  • Clinical Implementation: Guidelines, Reimbursement and Other Factors
  • Interpretation and Reporting of Results
  • The Potential for Fetal Cell Isolation & Analysis

Panel Discussions:

  • Genetic Counselors on Pre- and Post-Testing Issues, Education and Challenges
  • Sequence-based NIPT with Leading U.S. Service Providers
  • The Future Landscape of Prenatal Molecular Diagnostics
  • Facilitated Roundtable Breakout Discussions

Application for 10 hours of CEUs in process

Pre-Conference Events:

  • Carrier Screening and Pre-Implantation Diagnostics Short Course
  • Commercialization Boot Camp: Manual for Success in Diagnostics Workshop

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