A/Prof Lisa Hui from Mercy Hospital for Women will be giving ‘An update on prenatal diagnosis in 2020: dealing with uncertainty in the microarray era’
Over 80% of all prenatal diagnostic samples are now analysed by microarray rather than the traditional karyotype. While this is now the gold standard for chromosome analysis, it also creates uncertainty for many pregnant women as 5% will receiving a fetal genomic result of "uncertain significance". Lisa will present an update on prenatal diagnosis in Victoria, and introduce the Prenatal Microarray (PALM) cohort study, in which mothers and children who had prenatal diagnostic testing will be followed up for a range of psychosocial and health outcomes.
Dr George McGillivray, from Mercy Hospital, Royal Women’s Hospital and VCGS will follow and discuss ‘Fetal Exomes, genomes and the PreGen study 2021’.
Now that you are up to speed with chromosomal microarrays, Dr George McGillivray, clinical geneticist, will usher us into the era of fetal exome and whole genome sequencing. Through the Medical Research Future Funded project, PreGen, fetal exome sequencing will be made available where all conventional testing has not yielded an explanation for serious congenital condition .
Finally, we are honoured to have Professor Catherine Mills, a bioethicist from Monash University give us an update: ‘Ethical, social and regulatory issues at the frontier of next-generation prenatal testing: Where is all this genomic testing taking us as a society?’
Professor Mills is a bioethicist at Monash University, with special interest in reproductive care and genomics. She will help us navigate the complex ethical, legal and community impacts of genomic testing, including the challenges of obtaining informed consent for advanced NIPT and the urgent need to investigate the contemporary experiences of NIPT from both consumer and clinician perspectives.