5th Annual Advances in Prenatal Molecular Diagnostics
Date: November 28 - 29, 2017
Venue: Hyatt Regency Cambridge, Cambridge, MA USA

Cell-free DNA-based screening and the potential for cell-based screening has upended the field of prenatal testing. While cell-free tests are being used more and more in the clinic, cell-based tests are still on the cusp of commercialization. With both types of tests still in need of improvements in order to truly replace invasive tests, the near-term challenge is determining where the field heads once both options are viable. This meeting will discuss updated comparisons and examine the implementation, insurance, and clinical challenges associated with each test.

Furthermore, with advances in DNA amplification and sequencing comes greater opportunity to garner more information. Much discussion needs to take place in regards to the role of preconception counseling, expanded carrier screening, whole genome versus whole exome sequencing, and the effect these and any prenatal testing may have on the decision to continue a pregnancy or perform fetal therapy.

Topics may include, but are not limited to:

  • Bioethical considerations related to new prenatal diagnostics
  • Patient advocacy groups and their role in the field of prenatal testing
  • Reimbursement and regulatory issues related to prenatal molecular diagnostics
  • The role of carrier screening, PGD, and counseling in prenatal screening
  • Experiences and challenges of current genetic counseling approaches and capacity
  • Case studies of sequencing analysis of invasively obtained samples
  • Evaluation and considerations for offering cell-free screening for lower]risk pregnancies
  • The potential use of NIPT to prevent miscarriages
  • Options and validation of testing for a range of microdeletions, CNVs, and translocations
  • Issues with false positives, non]calls, and predictive value
  • The potential of advanced sample prep for improving prenatal results
  • Whole genome versus whole exome sequencing
  • Challenges and approaches for improved analysis of sequencing results
  • Different approaches for reporting of incidental or variations of unknown significance findings
  • The challenges and prospects for commercialization of fetal cell isolation from maternal blood
  • Updates from China: developing private hospitals, preconception counseling for advanced maternal age, and advances in technologies
  • Biomarkers for preeclampsia and pre-term labor, and the need for treatments
  • Clinical implementation of replacing any current prenatal testing options