The growing acceptance and availability of NIPT, based on next-gen sequencing of cell-free DNA from maternal blood, is having a dramatic impact on prenatal testing.  One result has been the steady decline in the number of women choosing invasive testing, with growing replacement of karyotyping by arrays or in some cases sequencing for analysis of these samples.  For non-invasive testing there has been increased differentiation among the leading test service providers.  There has been a push to expand NIPT use beyond higher-risk pregnancies, as well as extending the range of genetic conditions reported from the tests, but such changes come at a price.  Testing based on isolation of fetal cells from maternal blood would provide an attractive alternative to testing of cell-free DNA, but the commercialization of this approach has faced a range of challenges.  Updated comparisons and examination of these issues, and the implementation of these different approaches, will again make for lively discussion and insight into where this field is headed and ways for researchers, test providers, clinicians and clinics to take these developments into consideration.

The deadline for submission is May 1, 2015. 

Click here to submit your speaker proposal 


Coverage may include,
but is not limited to:

  • Trends and implications for invasive and non-invasive testing
  • Validation of testing for a range of microdeletions, CNVs and translocations
  • Experiences and limitations of current genetic counseling approaches
  • Evaluation and considerations for offering NIPT for lower-risk pregnancies
  • Development of kits for in-house NIPT sequencing
  • Bioethical considerations related to new prenatal diagnostics
  • Issues with false positives, non-calls and predictive value
  • The potential of advanced sample prep for improving prenatal results
  • The challenges and prospects for commercialization of fetal cell isolation from maternal blood
  • Challenges and approaches for improved analysis of sequencing results
  • Different approaches for reporting of incidental or variations of unknown significance findings
  • Reimbursement and regulatory issues related to prenatal molecular diagnostics
  • Clinical implementation of changes in prenatal testing options

All proposals are subject to review by the Scientific Advisory Committee to ensure the highest quality of the conference program. Please note that due to limited speaking slots, preference is given to clinicians, regulators and those from academia. Additionally, vendors/consultants who provide products and services to the audience are offered opportunities for podium presentation slots based on a variety of Corporate Sponsorships. 


Program Advisors

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

Subhashini ChandrasekharanSubhashini Chandrasekharan, Ph.D., Research Assistant Professor, Institute for Genome Sciences & Policy, Duke University

David LedbetterCamera Icon PNDXDavid Ledbetter, Ph.D., FACMG, Executive Vice President and CSO, Geisinger Health System

Cynthia_MortonCynthia Morton, Ph.D., William Lambert Richardson Professor of Obstetrics, Gynecology & Reproductive Biology and Professor of Pathology, Harvard Medical School; Director, Cytogenetics, Brigham & Women’s Hospital

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

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


For more details on the conference, please contact: 

Phillips Kuhl
Cambridge Healthtech Institute
Phone: (+1) 781-972-5410

For partnering and sponsorship information, please contact: 

Ilana Quigley
Business Development Manager
Cambridge Healthtech Institute
Phone: (+1) 781-972-5457


Premier Sponsor 

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