Uploaded February 2025 | Updated September 2026, 3 hours ago
Seminar Title: Identification of Treatable Genetic Disorders in Fetuses and Newborns
January 23, 2025 - Over the past decade, genomic sequencing has become a tool for understanding the genetic underpinnings of sonographic abnormalities detected during pregnancy. However, many genetic conditions do not cause detectable physical changes, but can still have profound implications for the health of the fetus or newborn. In this talk, Dr. Gold will discuss a proposed framework for a “treatable fetal findings list,” aimed at maximizing the clinical utility of prenatal genomic testing and enhancing the autonomy of pregnant patients. To address questions about the predictive value of such a list, examples related to genomic screening among infants and adults will also be discussed.
Dr. Gold is an Assistant Professor of Pediatrics and the Director of Prenatal Medical Genetics and Director of Metabolism at Massachusetts General Hospital. Her research investigates the use of population-based genetic screening to identify treatable genetic disease across the lifespan. Her most recent work focuses on identifying genetic disorders treatable in fetuses and examining the penetrance of genomic variants associated with childhood diseases in undiagnosed adults. She received her MD from Harvard Medical School, completed a combined pediatrics and medical genetics residency at Boston Children's Hospital, and completed a fellowship in medical biochemical genetics at the Children's Hospital of Philadelphia.
Relevant Links:
Nina Gold: massgeneral.org/doctors/20699/nina-gold
About the Seminar: genome.gov/cphr/seminars
Seminar Title: Identification of Treatable Genetic Disorders in Fetuses and Newborns
January 23, 2025 - Over the past decade, genomic sequencing has become a tool for understanding the genetic underpinnings of sonographic abnormalities detected during pregnancy. However, many genetic conditions do not cause detectable physical changes, but can still have profound implications for the health of the fetus or newborn. In this talk, Dr. Gold will discuss a proposed framework for a “treatable fetal findings list,” aimed at maximizing the clinical utility of prenatal genomic testing and enhancing the autonomy of pregnant patients. To address questions about the predictive value of such a list, examples related to genomic screening among infants and adults will also be discussed.
Dr. Gold is an Assistant Professor of Pediatrics and the Director of Prenatal Medical Genetics and Director of Metabolism at Massachusetts General Hospital. Her research investigates the use of population-based genetic screening to identify treatable genetic disease across the lifespan. Her most recent work focuses on identifying genetic disorders treatable in fetuses and examining the penetrance of genomic variants associated with childhood diseases in undiagnosed adults. She received her MD from Harvard Medical School, completed a combined pediatrics and medical genetics residency at Boston Children's Hospital, and completed a fellowship in medical biochemical genetics at the Children's Hospital of Philadelphia.
Relevant Links:
Nina Gold: massgeneral.org/doctors/20699/nina-gold
About the Seminar: genome.gov/cphr/seminars
