Application of massively parallel genomic sequencing to noninvasive prenatal diagnosis
Date: 10 December 2008
Time:12:30pm - 2:00pm
Venue: 126, C N Yang Reading Room, Science Centre North Block
Speaker: Prof. CHIU Wai Kwan Rossa, Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, The Chinese University of Hong Kong (Prof. Chiu represents Prof. Dennis LO’s group to present their research work.)
Abstract: Chromosomal aneuploidy is the main reason why couples opt for prenatal diagnosis. Current methods for definitive genetic diagnosis rely on invasive procedures, such as chorionic villus sampling and amniocentesis, which are associated with a risk of fetal miscarriage. In 1997, our group reported the presence of fetal DNA in maternal plasma and offered new avenues for the development of non-invasive prenatal diagnosis. However, fetal DNA exists as a minor fraction among a high background of maternal DNA. Hence, quantitative perturbations caused by an aneuploid chromosome in the fetal genome, e.g. chromosome 21 for Down syndrome, to the overall representation of sequences from that chromosome in maternal plasma would be small. Even with highly precise single molecule counting methods such as digital PCR, a large number of DNA molecules and hence maternal plasma volume would need to be analyzed to achieve the necessary analytical precision. Recently, we reasoned that instead of using approaches which target specific gene loci, the use of a locus-independent method would greatly increase the number of target molecules from the aneuploid chromosome that could be analyzed within the same fixed volume of plasma. Hence, we used massively parallel genomic sequencing using the Illumina ‘Solexa?platform to quantify maternal plasma DNA sequences for the non-invasive prenatal detection of fetal trisomy 21. In this presentation, the potential of using massively parallel plasma DNA sequencing as a new approach for the noninvasive prenatal diagnosis of fetal chromosomal aneuploidies will be discussed. The seminar will be presented in English. Light Lunch will be provided. First-come, first-served.
