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

10.30-10.45am       Welcome
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 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 ( 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