Work

EP18.33: Hydrops fetalis in the second trimester as an uncommon prenatal finding of Beckwith‐Wiedemann syndrome

Year: 2024

Type: conference-abstract

Abstract: 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.

Source: Ultrasound in Obstetrics and Gynecology

DOI: 10.1002/uog.28769

Author: P. Chi

Institution: Changhua Christian Hospital

Language: English

Topic: Genetic Syndromes and Imprinting

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W4402361439

Cites:

Cited by:

Related to: 10