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