lllumina Presents – iTalk: Expanding NIPT with the Power of Whole-Genome Sequencing Industry Sponsored Dinner Symposium
Jan. 30, 2018 6 - 8pm
Mark D Pertile PhD, FHGSA (Cytogenetics), ARCPA
Head of Reproductive Genetics and NIPT
Victorian Clinical Genetics Services
Murdoch Children’s Research Institute
Melbourne VIC Australia
Description: Whole-genome sequencing (WGS) of maternal plasma cell-free DNA (cfDNA) can evaluate all 24 chromosomes to identify rare autosomal trisomies (RATs) associated with miscarriage, true fetal mosaicism, uniparental disomy (UPD) and compromised placental function. Dr. Pertile will describe his laboratory’s experience using a whole genome NIPT that routinely screens for RATs in addition to the standard trisomies. Their experience and that of others show that screening for rare autosomal trisomies can provide valuable insights into feto-placental biology in a way that is only just becoming fully appreciated and understood.
Dr. Mark Pertile is a clinical scientist who specializes in reproductive cytogenetics and genomics. He is currently Deputy Director of Laboratories at Victorian Clinical Genetics Services, Melbourne where he heads the Division of Reproductive Genetics and the NIPT Laboratory. Mark received his Ph.D. in centromere biology and evolution from the University of Melbourne for research undertaken in the Chromosome Research Laboratory at Murdoch Children’s Research Institute. He obtained his Fellowship in Cytogenetics from the Human Genetics Society of Australasia while Head of Cytogenetics at the Royal Women’s Hospital, Melbourne. He holds an Honorary Senior Fellow position with the University of Melbourne and is a former Chief Examiner in Cytogenetics for the HGSA. Mark has a long-standing interest in early human embryology and development. He works with a team that applies molecular cytogenetics and genomics technologies to help identify the causes and origins of genomic conditions early in pregnancy.
This independent presentation is not part of the official program as planned by the SMFM Program Committee.
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