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.
For more information on the Fetal Sequencing Consortium, read our commentary in Prenatal Diagnosis.
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
- 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
- Ongoing education: Virtual meetings three times per month regarding interesting cases, new technologies, and research collaborations
- Building a federated repository: Using GA4GH best practices, working towards an international data repository for prenatal genotypes and phenotypes for clinical and research use
- Sequencing studies: Members have ongoing clinical and research sequencing opportunities
- 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
Texas Children's Hospital Prenatal and Reproductive Genetics
Igna van den Veyver
Website
Sam Stover
Website
Lauren Westerfield
Website
Centre for Cancer Biology, An SA Pathology & UniSA alliance – Genomic Autopsy Study
Professor Hamish S. Scott, PhD, FFSc (RCPA), FAHMS
Head, Department of Genetics and Molecular Pathology
Centre for Cancer Biology, An SA Pathology & UniSA alliance
SA Pathology (Frome Road), ADELAIDE SA 5000
hamish.scott@sa.gov.au
Professor Christopher Barnett, MBBS, FRACP, FCCMG
Clinical Geneticist
Head, Paediatric and Reproductive Genetics
SA Clinical Genetics Service, Women’s and Children’s Hospital
christopher.barnett@health.sa.gov.au
For general inquiries on the Genomics Autopsy Study, please refer directly to: Health.SAPathologyGenMolPathGenomicAutopsy@sa.gov.au
Columbia University
Stephanie Galloway, MS, CGC
Jessica Giordano, MS, CGC
Email
Thomas Hays, MD, PhD
Email
Website
Ronald Wapner, MD
Jackson Laboratories
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
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
Newborn Screening Translational Research Network (NBSTRN)
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