Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family history of maternal epilepsy

• Main Authors: Chih-Ping Chen (Author), Tung-Yao Chang (Author), Wan-Yuo Guo (Author), Yi-Ning Su (Author), Yi-Yung Chen (Author), Schu-Rern Chern (Author), Jun-Wei Su (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2013-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: To present a prenatal diagnosis of familial tuberous sclerosis complex (TSC). Case Report: A 29-year-old woman was referred to our institution for amniocentesis at 24 weeks of gestation because of congenital anomaly. The fetus had been found to have an intrathoracic echogenic mass, suspic...