Fetal Whole Exome Sequencing and Its Potential in Prenatal Diagnosis

Neeta Vora, M.D., Associate Professor, Department of OB GYN, Division of Maternal-Fetal Medicine, University of North Carolina Chapel Hill

Dr. Neeta Vora of University of North Carolina Chapel Hill spoke to CHI to discuss new opportunities and challenges in fetal whole exome sequencing for prenatal diagnosis. She discusses technical challenges, issues surrounding patient counseling, the potential for performing exome sequencing on noninvasively obtained samples, and her current research.







Peter Collins and Dr. Pepper Denman, both with Premaitha Health, spoke with Phillips Kuhl of CHI on October 30. Both Peter and Pepper will be speaking at CHI’s Third Annual Advances in Prenatal Molecular Diagnostics conference, taking place in Boston on November 16-18.

Topics covered in the podcast include perspectives on the differences between the U.S. and European markets for cell-free DNA prenatal testing, including the pros and cons of conducting such testing in-house compared to sending samples out for testing by a service provider. Premaitha’s position regarding whether or not to extend testing to sub-chromosomal genetic aberrations, specifically micro-deletions, is also addressed.

CHI chats with Rebekah S. Zimmerman, Ph.D., FACMG, Director, Clinical Genetics, Foundation for Embryonic Competence. Dr. Zimmerman discuss the latest technologies she and her non-profit lab are working with and developing, including how the non-profit lab is different from a typical PGD lab.

Dr. Zimmerman is one of our speakers for the Advances in NGS and Other Technologies session at the Reproductive Genetic Diagnostics conference.

Topics include: NGS, qPCR, genetic diagnostics, preimplantation genetic diagnosis.

CHI chats with Tanmoy Mukherjee, M.D., Assistant Clinical Professor, Obstetrics, Gynecology and Reproductive Science, Mount Sinai Hospital. Dr. Mukherjee discusses the current challenges facing reproductive specialists in regards to genetic diagnosis of recurrent pregnancy loss, as well as how NGS is affecting this type of testing.

Dr. Mukherjee is one of our speakers for the Clinical Applications for Advanced Testing Technologies session at the Reproductive Genetic Diagnostics conference.

Topics include: NGS, genetic diagnostics, product-of-conception, recurrent pregnancy loss

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