Industry Symposia

Educational symposia are hosted by ISPD Corporate Council members at the conference venue. Symposia proposals are reviewed by the ISPD Board of Directors.

Monday, 8 July 2024, 1:15-2:15 PM
Industry Lunch Symposium Sponsored by Illumina

Implementation of genome sequencing/exome sequencing (GS/ES) as a first-tier test in a prenatal setting

Michael Duyzend, MD, PhD, Boston Children's Hospital
Jessica Giordano, MS, CGC, Columbia University

Prenatal genome sequencing/exome sequencing (GS/ES) is now increasingly used in patient care to evaluate fetuses with structural anomalies. While evidence shows that GS/ES improve the diagnostic yield beyond that of routine karyotype or chromosomal microarray, the use of this technology as a first-line test in the prenatal setting is still developing. In this session, we will discuss the incorporation of prenatal GS/ES into routine clinical care, including when to offer, to whom, and how best to incorporate the results in clinical management.

First, we will consider the use of prenatal GS/ES as a first-tier diagnostic, rather than as a secondary test, in pregnancies with an identified fetal structural anomaly. We will discuss the benefits and limitations, as well as specialized considerations in the prenatal period, such as incidental findings, secondary findings, and implications for family members.

Second, given the impact of accurate phenotype-genotype correlation on the accuracy of GS/ES interpretation, we will explore the infrastructure required to capitalize on the potential of prenatal GS/ES. This includes development of standardized descriptions of fetal findings, expansion of syndromic features to include those seen (only) prenatally, and broad sharing of data.

The goal of this session is to spark a conversation about how best to transition prenatal GS/ES from an emerging test available only in highly specialized medical centers to a powerful option for all families facing the diagnosis of fetal structural anomalies.


Tuesday, 9 July 2024, 1:00-2:00 PM
Industry Lunch Symposium Sponsored by Natera

The evolution of NIPT: What comes next?

Samantha Leonard, MD, Medical Director, Natera
Vivienne Souter, MD, MPH, Medical Director, Natera

In this talk we will highlight how early, highly accurate prenatal screening optimizes outcomes for patients with 22q11.2 deletion syndrome, and review recently-published data from a large clinical validation study of Fetal RhD NIPT.