Fetal Sequencing Consortium

Fetal Sequencing Consortium

The Fetal Sequencing Consortium (FSC), hosted by the Women's Genetics program in the Department of Obstetrics and Gynecology, includes more than 20 national and international sites involved in fetal sequencing whose members participate in bi-weekly calls to share data, challenges, and discuss new technologies in fetal genomics. The FSC has sequenced more than 2,000 anomalous and stillbirth probands, finding that 13 to 26 percent of fetuses with structural anomalies currently have a causative genotype using ACMG guidelines.

Vision

Develop the tools necessary to understand and translate prenatal genomics into clinical care and developmental research

Aim

Increase understanding of perinatal genotype-phenotype relationships, identify novel genes and phenotypes, and increase our knowledge of developmental biology to improve clinical diagnosis and management

Ongoing initiatives

  1. Prenatal Human Phenotype Ontology (HPO) working group: In partnership with Dr. Peter Robinson at Jackson Laboratories, working towards refining the use of HPO terms for prenatal practice
  2. Ongoing education: Virtual meetings three times per month regarding interesting cases, new technologies, and research collaborations
  3. Building a federated repository: Using GA4GH best practices, working towards an international data repository for prenatal genotypes and phenotypes for clinical and research use
  4. Sequencing studies: Members have ongoing clinical and research sequencing opportunities
  5. ClinGen working groups: Leading the addition of prenatal phenotypes of stillbirth and hydrops to gene and variant curation expert panels

Our Members

Baylor College of Medicine

Columbia University

Stephanie Galloway, MS, CGC

Jessica Giordano, MS, CGC
Email

Thomas Hays, MD, PhD 
Email
Website

Ronald Wapner, MD

Jackson Laboratories

Peter Robinson, PhD
Email
Website

Johns Hopkins University

Karin Blakemore, MD
Phone: (410) 955-3091
Website

Kristen Miller, MGC, CGC
Email
Website

Chrissy Hertenstein, MGC, CGC
Email
Website

Katie Rock Forster, MS, CGC
Email
Website

Cathleen Lawson, MS, CGC
Email
Website

Angie Jelin, MD
Website

Katie Sagaser, MS, CGC
Email
Website

Leiden University Medical Center

Gijs Santen
Clinical Geneticist
Email
Website

Monique Haak, MD, PhD
Fetal-Maternal Medicine Consultant and Fetal Surgeon
Email
Website

Mayo Clinic

Mauro Schenone, MD
Website

Elizabeth Bonnema, MS
Website

Laura Rust MS, CGC
Website

Charisse Trinidad, MD
Website

Myra Wick, MD, PhD
Website

Mount Sinai Hospital at the University of Toronto and the Hospital for Sick Children University of Toronto

David Chitayat, MD
Email
Website

Maian Roifman, MD
Email
Website

Karen Chong, MD
Email
Website

Newborn Screening Translational Research Network (NBSTRN)

Amy Brower, PhD
Phone:(712) 577-0666
Email
Website

Kee Chan, PhD, MBA
Phone: (203) 507-6077
Email
Website

Nizams Institute of Medical Sciences and the Centre for DNA Fingerprinting and Diagnostics

Shagun Aggarwal, MD
Email
Website

Oregon Health and Science University

Aaron B. Caughey, MD, MPH, PhD

Cori Feist, MS, CGC

Rachel Pilliod, MD

Stephanie Dukhovny, MD

Tel Aviv Sourasky Medical Center

Vered Ofen Glassner, GC
Email
Website

Yuval Yaron, MD
Director, Prenatal Genetic Diagnosis Unit
Email

Tubingen University

Andreas Dufke, MD

Karl Kagan, MD
Website

University of California, San Francisco

Mary E. Norton, MD
Email
Website

Teresa N. Sparks, MD, MAS
Email
Website

Billie R. Lianoglou, MS, LCGC
Email
Website

University of New South Wales / Pregen

Alyssa Wilson
Email
Website

Tony Roscioli, PhD, FRACP, FRCPath
Email
Website

University of North Carolina, Chapel Hill

Neeta Vora, MD
Website

Kelly Gilmore, MS, CGC
Email

Join the Fetal Sequencing Consortium

Want to join? Please email Jessica Giordano, MS, CGC for more information.

Join the Fetal Sequencing Consortium