Sunday, 7 July 2024
8:00 AM – 12:00 PM EDT (UTC-4)
Course 1 | Fetal Therapy Theoretical
Co-sponsored by NAFTNet
Chairs: Tim Van Mieghem and Alireza Shamshirsaz
- Management of complex monochorionic pregnancies with TTTS and TAPS. Jena Miller
- Management of monochorionic pregnancies with selective fetal growth restriction (sFGR). Tim Van Mieghem
- Management of vasa previa and role of fetoscopic laser photocoagulation. Ramesha Papanna
- Fetal therapy: Basic overview on genomic treatment. Anna David
- Updates on fetal treatment for congenital diaphragmatic hernia. Jan Deprest
- Q&A/Panel Discussion
Course 2 | Updates in Fetal Cardiology
Chairs: Lindsay Freud and Lynn Simpson
Updates in Fetal Cardiology will cover a breadth of topics and advances in fetal cardiology, including screening for congenital heart disease, cardiac genetics, fetal cardiac intervention, and the placenta-fetal heart-fetal brain axis. In addition, research that is hot off the presses in the special cardiac edition of
Prenatal Diagnosis will be introduced. The course was informative to providers from a range of disciplines, including obstetrics, pediatrics, genetics, and radiology amongst others.
- Introduction of the Special Cardiac Issue in Prenatal Diagnosis
- Where are we with prenatal cardiac screening in 2024? Monique Haak
- Update on genetics of congenital heart disease and prenatal testing. Jessica Giordano
- 22q11.2 microdeletion syndrome and congenital heart disease. Lindsay Freud
- Fetal cardiac intervention: what’s new and what’s next? Wayne Tworetzky
- The placenta and the fetal heart. Sarah Morton
- The impact of fetal heart anomalies on the developing brain. Shabnam Peyvandi
- Q&A with speakers
Course 3 | Sequencing
Chairs: Natalie Chandler and Teresa Sparks
The Sequencing pre-conference course covered a breadth of contemporary topics important to understand for fetal exome and genome sequencing. Presentations will cover important points for patients' understanding of sequencing technology and results, complicated results that may be unrelated to the reason for testing in the first place, nuances of bioinformatic pipelines, standards for fetal sequencing services, and emerging technologies for fetal genome sequencing. Case presentations will also be incorporated to illustrate several of these points.
- What standards should fetal sequencing services adhere to? Sandi Deans
- Unexpected findings on exome or genome sequencing: incidental diagnosis or phenotype expansion? Teresa Sparks
- What should patients understand about prenatal sequencing and how should counseling be approached? Lyn Chitty and Igna Van den Veyver
- Exome vs genome sequencing: advantages, disadvantages, and bioinformatic pipelines. Natalie Chandler
- New technologies to increase the diagnostic yield of genome sequencing. Harrison Brand
- Case Presentations
12:00 – 2:00 PM EDT (UTC-4) — BREAK, Lunch on your own
2:00 – 6:00 PM EDT (UTC-4)
Course 4 | Hands On Fetal Therapy Workshop | Takes Place Offsite
Co-sponsored by NAFTNet
Chairs: Tim Van Mieghem and Alireza Shamshirsaz
This course was highly recommended for people with a keen interest in fetal interventions. In this hands-on course, a group of highly experienced instructors walked small groups of participants through a number of fetal surgeries using high-fidelity models. The participants had the opportunity to try their hand at fetoscopic laser for twin-twin transfusion syndrome, fetoscopic tracheal occlusion, fetoscopic spina bifida surgery and other procedures. This was a unique opportunity to get hands-on advice from experts, learn tips and tricks for difficult scenarios and network with like-minded fetal surgeons.
- Introduction
- Simulation stations (registrants will rotate through each station in groups):
- Fetoscopic laser photocoagulation in anterior and posterior placenta
- Ultrasound guided shunt placement (vesico-amniotic and pleuro-amniotic)
- Fetoscopic endotracheal balloon occlusion (FETO)
- Fetoscopic neural tube defect repair
- Discussion/Q&A with Instructors
Instructors: Rogelio Cruz-Martinez, Jan Deprest, Akos Herzeg, Eyal Krispin, Jena Miller, Ramesha Papanna, Erin Perrone, Greg Ryan, Alireza Shamshirsaz, Tim Van Mieghem
Course 5 | First Trimester Imaging
Co-sponsored by ISUOG
Chairs: Stephanie Dukhovny and Reem Abu-Rustum
Recent advances in ultrasound technology have significantly improved the ability to detect anomalies beyond the nuchal translucency ultrasound scan, typically performed between 11+0 and 13+6 weeks of gestation. This course aimed to delve into first trimester imaging, focusing on guidelines for assessing first trimester fetal anatomy, strategies for detecting anomalies at this early gestation, and identifying abnormalities in twins and genetic disorders through first trimester ultrasound imaging.
- First Trimester Guidelines: Where are we today? Bryann Bromley
- First Trimester Ultrasound: What can we see today? Reem Abu-Rustum
- First trimester cardiac anatomy and diagnosis of anomalies. Lindsay Freud
- Twins and challenges of prenatal diagnosis in first trimester. Liesbeth Lewi
- First trimester phenotypes of genetic diseases. Katie Gray and Stephanie Dukhovny
- Q&A/discussion/panel
Course 6 | Current and Future Directions of NIPT
Chairs: Brynn Levy and Louise Wilkins-Haug
Non invasive prenatal testing (NIPT), when first introduced into clinical practice, was limited to investigation of fetal aneuploidy involving chromosomes 13, 18, and 21 as well as determination of the sex chromosomes. NIPT has now expanded beyond the common trisomies with the ability now to assess genome-wide imbalances as well as single nucleotide variants. This session explored the various offerings as well as the strategies employed for their detection. At the end, instructors presented a series of patient cases and a panel of experts discussed the variability of NIPS utilization.
- The landscape of NIPT Offerings. Brynn Levy
- NIPT for carrier screening and single gene disorders. Neeta Vora
- Counseling Nuances in NIPT: Autosomal & Sex chromosome differences. Lorraine Dugoff
- Whole genome assessment for SNVs. Michael Duyzend
- NIPT and Cancer, what is the real life risk? Diana Bianchi
- Panel Discussion: What NIPT tests should be offered and who decides
Course 7 | Advancements in Carrier Screening: Novel Concepts and Updates
Chairs: James Goldberg and Britton Rink
This session delved into the multifaceted landscape of carrier screening, exploring topics ranging from the practical implementation of national screening programs to the nuanced considerations of panel size selection. Through a series of engaging lectures, participants gained insights into the complexities of carrier screening, including barriers to widespread adoption and unexpected personal health implications revealed through testing. By the end of the session, attendees were equipped with the knowledge to navigate its implementation and implications effectively. The course was delivered through a combination of lectures, case studies, interactive discussions, and Q&A sessions with experts in the field. Participants had the opportunity to engage with peers and instructors, fostering a dynamic learning environment conducive to knowledge exchange and skill development.
- Implementation of a National Carrier Screening Program. Alison Archibald
- How big is too big? Discussion of carrier screening panel size. Teresa Sparks and Alison Archibald
- Barriers to Carrier Screening Pre and Post Conception. Leland Hull
- Embryo/fetus screening by sequencing. Nina Gold
- Personal Health Implications Identified by Carrier Screening. Stephanie Guseh and Logan Mauney
- Panel Discussion/Q&A