Genomics and Fetal Medicine – the role in prenatal diagnosis of the fetus with congenital malformations.
Genomic sequencing plays a significant clinical role in prenatal screening and diagnosis within fetal medicine. This recording is structured as a multidisciplinary, case-based discussion, in which an expert panel explores the application and impact of modern genomic technologies.
The discussion focuses on the use of ‘trio’ genomic sequencing during pregnancy—incorporating analysis of fetal DNA alongside parental samples, obtained through both invasive and non-invasive methods. The panel considers how this approach enhances real-time diagnostic accuracy, supports clinical decision-making, and provides valuable insights into recurrence risk and implications for wider family members.