Annual Clinical Genetics Meeting, April 13-16, 2021

Fetal Exome

Next generation sequencing (NGS) is one area of precision medicine that holds promise for the diagnosis and treatment of fetal congenital anomalies, genetic disorders and other complications of pregnancy. This technology allows UCSF clinicians and researchers to examine the exome and to better understand and treat fetal conditions.

The UCSF Center for Maternal-Fetal Precision Medicine is leading new advances in gene-based interventions for fetal care. Two clinical trials of exome sequencing are now underway through the Center for Maternal-Fetal Precision Medicine at UCSF Benioff Children’s Hospitals.

Benefits of exome sequencing

What is exome sequencing?

More efficient than tests that look at single genes one at a time, exome sequencing is a genomic technique for analyzing all the protein-coding regions of the genome. These regions are referred to as the exome. Focusing on this small portion (only 2 percent) is less expensive than sequencing the whole genome but still identifies a genetic diagnosis in many cases.

The goal of exome sequencing is to cast a wider net than is possible with specific gene panels, to more quickly identify genetic etiologies of diseases. Researchers at UCSF Benioff Children’s Hospitals are using exome sequencing to better understand the causes of fetal anomalies. The result may improve patient care.

Webinar: When Is Exome Sequencing Valuable in Prenatal Diagnosis?

View the webinar, with maternal-fetal medicine specialist, Mary E. Norton, MD, discussing genetic testing options, with a focus on when exome sequencing has value to families. Also, perinatologist, Teresa N. Sparks, MD, presents specifics on exome sequencing for nonimmune hydrops fetalis, caused by many single-gene disorders, plus a look at findings from her current NIHF study.

Prenatal exome sequencing clinical trial now enrolling patients

The Center for Maternal-Fetal Precision Medicine at UCSF Benioff Children’s Hospitals is currently enrolling for two clinical trials performing exome sequencing. The goals of these studies include:

Pregnant women who meet the following criteria may be eligible:

All costs of testing will be paid for by these studies, which are funded by the National Human Genome Research Institute of the National Institutes of Health.

For a full description of these studies:

Download the PEGS Research PDF Brochure

or visit UCSF Clinical Trials to read the specific trail information at:

For more information, contact:

Billie Lianoglou, MS, LCGC

Billie Lianoglou, MS, LCGC

Genetic Counselor


Mary E. Norton, MD

Mary E. Norton, MD

Perinatologist and Clinical Geneticist

Co-Director, Center for Maternal-Fetal Precision Medicine

Director, Division of Maternal-Fetal Medicine


Teresa Sparks, MD, MAS

Teresa Sparks, MD, MAS

Perinatologist and Clinical Geneticist