Perinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar hypoplasia: A case report

• Main Authors: Chin-Chieh Hsu (Author), Ni-Chung Lee (Author), Yin-Hsiu Chien (Author), Chao-Fan Liu (Author), Yao-Lung Chang (Author)
• Format: Book
• Published: Elsevier, 2024-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: To present the ultrasound imaging and genetic diagnosis of a fetus with prenatal lethal form of Gaucher disease. Case report: A 37-year-old primiparous woman was pregnant at her 23 weeks of gestation and the prenatal fetal ultrasound revealed hydrops fetalis, cerebellum hypoplasia, and fe...