Sunday, 18 June 2023
9:00 – 1:00 PM BST (UTC+1)
Course 1 | Exomes
Chairs: Natalie Chandler and Sandi Deans
-
How can clinicians contribute to the interpretation and reporting of fetal sequencing results. Sylvie Langlois
- Developing a national rapid fetal sequencing service — what should be reported and when. Brigitte Faas
- Cases where variants are reported which do not confirm a diagnosis. Natalie Chandler
- The challenges of standardising prenatal variant interpretation. Melody Tabiner
- Round table: Guidelines for laboratory testing and reporting fetal sequencing results.
- Round table: Challenging cases for discussion, submission from delegates
Course 2 | First Trimester Screening
Chairs: Lisa Hui and Katia Bilardo
- Overview of the updated ISPD NIPT statement. Lisa Hui
- What are we missing when we replace the first trimester combined screen with cell-free DNA screening? Katia Bilardo
- Screening the maternal virome with first trimester plasma cfDNA — is this the future? Erik Sistermans
- What is the most comprehensive paradigm for first trimester screening? Oliver Kagan
- Routine T1 anatomy survey - what will it take to make this standard of care? Jehan Karim
- Aneuploidy screening early in the first trimester: the power of the 10 week pre-NIPT scan. Simon Meagher
1:00 – 2:00 PM BST (UTC+1) — Course Registrant Lunch
2:00 – 6:00 PM BST (UTC+1)
Course 3 | NIPT
Chairs: Mark Pertile and Erik Sistermans
- Paradigm changes in prenatal testing: the global impact of NIPT. Diana Bianchi
- Introducing NIPD. Natalie Chandler
- NGS based NIPT, targeted or genome wide? Joris Vermeesch
- Importance and limits of reporting fetal fraction. Erik Sistermans
- Discordant NIPT results: Lessons in maternal and placental biology. Mark Pertile
- Panel, Q&A or case studies
Course 4 | Imaging as an Aid in the Era of Prenatal Diagnosis and Therapy
Chairs: Anna David and Mary Porteous
- The role of imaging (MRI and USS) in the diagnosis and surgical management of open spina bifida. Michael Aertsen
- Which is the best imaging to diagnose and plan the care of women with Placenta Accreta Spectrum? Sebastian Hobson
- How does fetal imagining inform subsequent genomic test interpretation. Mary Porteous and Rebecca Reimers
- Imaging of fetal cardiac anomalies — current practice and innovative techniques. Dr. David Lloyd
- Imaging and genetics in the diagnosis and management of early onset fetal growth restriction. Dr. Anna David
- Case Studies