Paul De Fazio1, Ling Sun1, Matthew Hunter2, Abhijit Kulkarni1
1 Cytogenetics, Monash Health, Monash Medical Centre, Clayton, Victoria, 3168
2 Monash Genetics, Monash Health, Monash Medical Centre, Clayton, Victoria, 3168
Approximately 15% of all clinically recognized pregnancies result in spontaneous miscarriage, of which about 50% are etiologically attributed to chromosome abnormalities. Of first trimester miscarriages with an identified genetic abnormality numerical chromosome abnormalities account for ~86% of cases, structural abnormalities for ~6% and single gene mutations or mosaicism the remaining ~8%. There is currently no international consensus on the criteria for recurrent miscarriage (RM) or on testing recommendations. Looking at retrospective data from 2015 in the Cytogenetics laboratory at Monash Medical Centre we evaluated the results of chromosome analysis on fetal tissues using microarray. 432 products of conception and fetal loss specimens were processed for microarray testing. Of these, 32% (n=104) showed a chromosomal aneuploidy, 3.5% (n=15) were triploid and an unbalanced chromosomal abnormality was identified in 2 cases. Presenting the validation data for QF-PCR to identify common aneuploidies, we propose a more efficient two-step protocol for cytogenetic testing of fetal loss tissues. The scientific, clinical and economic benefits of this protocol will be discussed.
Paul completed a Master of Science in Genetics at the University of Melbourne in 2013 before joining the Cytogenetics laboratory at Monash Health in 2014. His role at Monash is now focused around the development and implementation of new molecular test methods.