Lorna Williams1, Paula Lall, Louise Hills, David Francis, Ralph Oertel, Amber Boys, Fiona Norris
1 Victorian Clinical Genetics Services, Royal Children’s Hospital, 50 Flemington Rd, Parkville, VIC 3052. Email: firstname.lastname@example.org
Chromosome microarray analysis (CMA), initially offered in the context of high risk pregnancies, is now commonly performed for a range of referral reasons. The clinical utility of CMA to detect pathogenic copy number changes is well established, however concerns of detecting variants of unknown significance or susceptibility loci for neurodevelopmental disorders are often raised as reasons for not offering CMA in pregnancies with normal ultrasound scans.
With this in mind, we review over 5,000 prenatal CMA results reported at VCGS Cytogenetics Laboratory between 2013-2016 – comparing outcomes from high and low risk referrals, examine the continued use of conventional chromosome analysis, and the impact non-invasive prenatal testing (NIPT) has made to referral numbers and indications over this time.
Lorna trained as a cytogeneticist at Oxford Cytogenetics Laboratory in the UK and has been working at the VCGS for the last 6 years as a medical scientist on the prenatal section.