Advanced Technologies in Prenatal Diagnosis: Closing the Diagnostic Gap with Genome Analysis

September 10, 2025

Traditional prenatal testing methods, including CMA and exome sequencing, can yield informative results, but often leave diagnostic gaps. Genome analysis is helping to close those gaps by identifying clinically significant variants that standard approaches may miss, such as small CNVs, short tandem repeat expansions, mitochondrial variants, and others. In this presentation the speakers highlight the clinical utility of prenatal genome testing, outline the technical advantages that contribute to higher diagnostic yield, and examine its implications for patient counseling, perinatal care, and informed consent. Real-world case examples demonstrate how genome analysis supports more informed and confident decision-making in prenatal care.

About the speakers

Allan Fisher, MD, FACOG, FACMG

Dr. Fisher is the Medical Director at Variantyx and a maternal fetal medicine geneticist with 35+ years of clinical and academic experience.

Christine Stanley, PhD, FACMG

Dr. Stanley is the Chief Genomics & Compliance Officer at Variantyx and an expert at interpretation of whole genome data with 20+ years experience in prenatal and postnatal testing.

Jane Schuette, MS, CGC

Ms. Schuette is the Manager of Prenatal Analysis & Clinical Genomics Team Lead at Variantyx. Jane is a certified genetic counselor with 30+ years experience in prenatal and postnatal genetic testing.