View Only- Nonimmune Hydrops: Clinical Utility of Prenatal Exome Sequencing-December 18, 2019 MP4

Video Transcription

Video Summary

The video transcript features a presentation by an expert panel discussing the clinical utility of pre-needle exome sequencing in the diagnosis of non-immune high-drops, a condition characterized by fluid overload in fetuses. The panel is part of the American College of Medical Genetics and Genomics Case Conferences and includes genetic counselors and doctors from the University of California San Francisco Fetal Treatment Center. They discuss two case studies where exome sequencing was used to identify genetic causes of non-immune high-drops. The first case involved a fetus with ascites and hypertrophic dilated cardiomyopathy, for which exome sequencing revealed compound heterozygous variants in the ACAD9 gene. The second case involved a fetus with mild ascites, which progressed to high-drops at 32 weeks of gestation. Exome sequencing identified two missense variants in the NPC1 gene, confirming a diagnosis of Niemann-Pick disease type C. The panel discusses the importance of exome sequencing in identifying genetic causes of non-immune high-drops, as standard genetic testing often fails to yield diagnoses. They also highlight the need for further research to understand the genetic etiologies of non-immune high-drops and improve prenatal diagnosis and management. The panel concludes by mentioning ongoing studies and clinical trials focused on exome sequencing, and they provide contact information for further inquiries.

Keywords

pre-needle exome sequencing

non-immune high-drops

clinical utility

genetic causes

ACAD9 gene

NPC1 gene

Niemann-Pick disease type C

prenatal diagnosis