This one-minute lightning talk and accompanying poster were due to be presented at the Genomics of Rare Disease Conference, 2020, hosted at the Wellcome Genome Campus, Cambridge, UK. The conference moved to a virtual format following the measures put in place during the COVID-19 pandemic.
In this short video, the lightning talk is presented to highlight the background and findings from our recent study on the diagnosis of fetal structural abnormalities. In this study, 104 prenatal samples from the Fetal Medicine Unit at St. George’s University Hospital, London were sequenced using either Agilent Clinical Research Exome v2 or Nonacus ExomeCG. These samples were processed in the Congenica platform and then analyzed by Congenica’s Clinical Scientist team, to enable a diagnosis in this patient cohort.
A diagnosis was confirmed in 38% of cases; half of which were complex multisystem disorders. The diagnosed cohort includes two compound heterozygous cases with an SNV and CNV affecting the same gene, detected using the Nonacus ExomeCG kit and Congenica’s implementation of the CNV-calling pipeline, ExomeDepth.
Selected variants of uncertain significance (VUS) identified by Congenica’s Clinical Scientists were discussed at Multidisciplinary Team (MDT) meetings, with the referring physicians; three VUSs were reclassified as pathogenic after MDT, highlighting the importance of clinical input when issuing genetic reports.
Download a copy of the Genomics of Rare Disease 2020 poster, Diagnosis of fetal structural abnormalities using exome sequencing: a single centre study:
Download the Poster