P855: A fetal diagnosis of LRP2-related Donnai-Barrow syndrome through prenatal genome sequencing
A fetal MRI at 27 1/7 weeks of gestation noted agenesis of the corpus callosum and an absent cavum septum pellucidum. Trio genome sequencing (GS) with masking of incidental findings was ordered. Six weeks after amniocentesis was performed, the patient suffered an intrauterine fetal demise secondary to pre-eclampsia.
Authors
- Munir Nazir
- Charles W. Walker (ORCID: https://orcid.org/0000-0001-5824-2027)
- Ethel Jolicoeur
- Martin Gimovsky
Institutions
- Newark Beth Israel Medical Center (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103224
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00