Publications by authors named "Melissa Cornthwaite"
Prenat Diagn
November 2022
Article Synopsis
- The study evaluated how effective whole exome sequencing (WES) and targeted gene panel testing are for diagnosing fetal anomalies in pregnancies.
- The diagnostic success rates were 21.5% for WES and 26% for gene panels, with a notable number of uncertain findings, which can complicate results.
- A collaborative review process improved diagnostic yields slightly and highlighted the need for better guidelines on reporting uncertain results and a team-based approach in genetic testing.
