Keynote Presentation: One week turnaround time for NIPT result confirmation and abnormal ultrasound follow-up using short read genome and transcriptome sequencing

We will discuss three main areas in the talk.

1. The tools needed to provide NIPT verification from amniocentesis fluid and chorionic villi biopsies with a one week turnaround time

2. The clinical utility and limitations of long read genome sequencing for diagnostic applications

3. The role of transcriptome analysis in classification of variants of unknown significance

4. Discussion of recommended testing paradigm to resolve difficult cases

Learning Objectives: 

1. Understand the limitations of NIPT and the genomic testing that can provide confirmation

2. Understand the basics  as well as utility and limitations of long read genome sequencing

3. Understand the role of transcriptome analysis in classification of variants of unknown significance