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.

Abstract excerpt

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, suspicious of type III congenital cystic adenomatoid malformation of the lung (CCAML). The woman presented with a medical...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Alternative Splicing
• Share to Diagnosis, Differential