VIRTUAL IDDRC Seminar: Tania Attie-Bitach (Hospital Necker-Enfants Malades and Université Paris Descartes) – “Fetal Pathology in Monogenic IDD Syndromes”

March 8, 2021
4:00 pm - 5:15 pm
Zoom conference (Virtual)

“Fetal Pathology in Monogenic IDD Syndromes”

The IDDRC Seminars for Neurodevelopmental Disorders Research brings in WashU faculty and other experts across disciplines whose research has particular implications for interventions in neurodevelopmental disorders.

Join webinar

Hosted by the Intellectual and Developmental Disabilities Research Center (IDDRC) and the Department of Neuroscience.

Abstract: Structural birth defects affect 3 % of neonates and contribute to approximately one-third of perinatal demise. Congenital anomalies are identified during prenatal screening ultrasound, and evaluating the prognosis is crucial for management of the pregnancy. However, detailed phenotyping is challenging in fetal life, as well as the evaluation of neurodevelopmental outcome both following termination of pregnancies (fetal pathology) or during pregnancy (fetal medecine). Beyond chromosome abnormalities found in approximately 10-15% of pregnancies with structural birth defect, the clinical usefulness of whole exome sequencing (WES) in prenatal diagnosis for the diagnosis of monogenic disorders is now demonstrated, improving the prognostic counselling, and the genetic counseling. Diagnostic yield, efficiency, limitations and difficulties of WES-based prenatal diagnostics will be discussed.

IDDRC Seminar Mini-series January-May 2021
“Toward advances in IDD treatment through maternal-fetal medicine”

Full schedule, IDDRC Seminars

For inquiries or if you would like to be added to a distribution list for these events, contact Daniel Gray.