I audited the potential number of cases where a pES would meet the R21 exome sequencing criteria and demonstrated that there was a clinical need based upon updates to termination of pregnancy and that this was indeed manageable at 2/month. We are now on our 10th case and our diagnostic yield is 40% in keeping with other institutions. This was following presentation of this audit at the RJMS audit meeting as well as presentation at the Ulster O&G society
Who is affected
Pregnant women with fetal anomaly in Northern Ireland