P868: Prenatal findings of mevalonate kinase deficiency in an MVK I268T homozygous fetus
Based on poor pregnancy prognosis in the fetus with abnormal anatomical findings with likely genetic etiology, patient elected to terminate her pregnancy using an US-guided intracardiac KCl injection at 22w1d GA. At the time, the genome cfDNA screen had yielded a negative result and the parental comprehensive carrier screen was still pending.
Authors
- Nidhi Shah (ORCID: https://orcid.org/0000-0003-0851-8376)
- Marek Svoboda (ORCID: https://orcid.org/0000-0003-4455-0461)
- Devin Applebee
Institutions
- Dartmouth Hospital (GB)
- Dartmouth Health (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103237
- Primary Topic
- Nuclear Structure and Function
- Type
- article
- Field-Weighted Citation Impact
- 0.00