EP18.33: Hydrops fetalis in the second trimester as an uncommon prenatal finding of Beckwith‐Wiedemann syndrome
Beckwith-Wiedemann syndrome (BWS, OMIM: 1300650) is a congenital overgrowth disorder with the incidence rate approximately 1/13,000. The typical prenatal sonographic features are macrosomia, macroglossia, organomegaly and abdominal wall defect et al. In which, hydrops fetalis is an uncommon phenotype. Herein, we presented a case of BWS demonstrated with hydrops fetalis in the second trimester, which finally diagnosed by chromosome microarray (CMA) and Methylation-Specific Multiplex Ligation-dependent Probe Amplification (MS-MLPA). Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
Authors
- Peter Chi (ORCID: https://orcid.org/0000-0001-9229-8729)
Institutions
- Changhua Christian Hospital (TW)
Publication Details
- Journal
- Ultrasound in Obstetrics and Gynecology
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1002/uog.28769
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00