Genetic Testing Update: When Is Exome Sequencing Valuable in Prenatal Diagnosis?

Genetic Testing Update: When Is Exome Sequencing Valuable in Prenatal Diagnosis?

In this webinar, maternal-fetal medicine and genetics specialists, Drs. Mary Norton and Teresa Sparks discuss advances in genetic testing. Dr. Norton first describes exome sequencing and discusses when this test has value to families. Dr. Sparks then presents specifics on the benefits of exome sequencing for nonimmune hydrops fetalis, caused by many single-gene disorders, and provides a look at findings from her current hydrops study.


Published

July 8, 2020

Created by

UCSF MedConnection

Related Presenters

Mary Norton, MD

Mary Norton, MD

Perinatologist and medical geneticist

Mary E. Norton is a perinatologist and clinical geneticist at UCSF Medical Center's Prenatal Diagnostic Center. She primarily cares for pregnant women who have a fetus with a birth defect or genetic disorder or are at risk for such a ...

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Teresa Sparks, MD

Teresa Sparks, MD

Assistant Professor, Ob/Gyn, Reproductive Sciences
Perinatologist and Medical Geneticist

Dr. Teresa Sparks is an obstetrician who specializes in maternal-fetal medicine, managing the health concerns of both mother and fetus through all stages of pregnancy. She cares for women with high-risk pregnancies and those who are considering ...

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