Maternal Cell Contamination Workshop Day
Date: Friday 5th April 2018
Time: 10.00 am - 4.45 pm
Venue: West End Room, Level 2, Hotel Grand Chancellor on Hindley
Cost: $100 per ASDG registered attendee (includes morning and afternoon tea and lunch)
$200 per non-registered attendee (includes a ticket to the Welcome Reception)
A full day workshop on Maternal Cell Contamination will be held on Friday 5th April at the Hotel Grand Chancellor on Hindley. A minimum of 10 participants is required for this workshop to proceed. Please register with your registration to the ASDG.
10.00am Registration opens with tea and coffee on arrival
Bruce Bennetts/Anja Ravine
Setting the scene - Bruce Bennetts
MCC analysis - What is it? Why should it be performed? When should it be performed? What are the consequences if it goes wrong or is not done?
10.45-11.05am Highlights of the RCPAQAP-RCPA-HGSA Survey - Anja Ravine
11.05-11.20am Interpretation of STR results - traps for young players - Electra Pontikinas
11.20-11.40am How much is too much MCC? - Cath Nicholls
11.40-12.30pm 1st Round table discussion (small groups with a facilitator for each group) 30 min discussion + 20 min group feedback
When is MCC testing required?
Minimum sample requirements? (fetal? fetal & maternal? trio?)
12.30 – 1.15pm Lunch
1.15 - 2.05pm 2nd Round table discussion
Range of risks associated with MCC testing?
Need to consider the different types of tests offered for fetal tissue analysis
2.05 - 2.55pm 3rd Round table discussion
Strategies for determining the safe upper limits of MCC for fetal tissue analysis? MCC validation requirements?
2.55 – 3.15pm How should MCC findings be reported?
Assay design- is one assay suitable for all situations?
3.15 - 3.45pm Afternoon tea/coffee
3.45 - 4.05pm Other uses for MCC assays
Specimen mix-ups, zygosity analysis for twins, confirmed de novo variant status for ACMG guidelines
4.05 - 4.45 pm What’s next? Towards national standardised guidelines for MCC analysis
5.00-7.00pm Welcome reception for Workshop and ASDG conference registrants
Variant Interpretation Workshop
Date: Saturday 6th April 2019
Time: 3.45 pm - 5.30 pm
Expert Panel Members: Dr Anne O’Donnell-Luria, Dr Anna Brown, Dr Karin Kassahn and Dr Sarah King-Smith
If you would like to present a case which is interesting, a case you haven’t been able to solve, or would like advice on, please advise firstname.lastname@example.org so a time slot can be assigned to you. Please prepare 2-3 powerpoint slides to be uploaded with the AV technician at the start of the conference in preparation for the workshop.
3.45 pm Setting the Scene: Variant Interpretation in the Diagnostic Laboratory
Dr Karin Kassahn
3.55 pm Moving beyond ACMG
Dr Anna Brown
4.05 pm Variant sharing and discordance resolution
Dr Sarah King-Smith
4.15 pm How the Experts Solve Difficult Cases
Dr Anne O’Donnell-Luria (TBC)
4.35 pm Solving Your Cases
Short presentations by delegates of interesting cases, cases you haven’t been able to solve, or would like advice from the experts on.
Please advise Rachel Fraser (email@example.com) if you wish to present a case.
Prepare 2-3 powerpoint slides.
See AV technician on Friday 5th or Saturday 6th (am) to upload your slides for the workshop.
5.00 pm - 5.30 pm General Discussion
- VUS and how to push them towards benign or pathogenic?
- Common pitfalls in variant interpretation
- Questions from the floor