Abstract
ObjectiveThe aim of this study is to review our institution’s experience with fetal cardiac rhabdomyoma, and to document the prenatal genetic testing for tuberous sclerosis complex (TSC) and clinical outcome of the affected pregnancies. Study designDuring a four-year period, patients with fetal cardiac rhabdomyoma were detected by echocardiography in the second trimester of pregnancy. Molecular genetic analysis was conducted on fetuses to screen for variants of TSC1/TSC2 genes. We reviewed medical records of these affected pregnancies, including maternal demographics, sonographic findings, genotyping results and pregnancy outcomes. ResultsEleven cases with fetal cardiac rhabdomyoma were studied during the study period. A pathogenic variant of TSC1/TSC2 genes was detected in all cases, including two with an inherited variant and nine with a de novo variant. Out of these eleven cases diagnosed prenatally, eight pregnancies were terminated and three continued till term. ConclusionsCardiac rhabdomyoma is the prenatal sign of TSC. A molecular investigation of TSC1/TSC2 genes should be recommended for fetuses with a rhabdomyoma and the parents, and the prognostic counselling should include TSC and its consequences.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callMore From: European Journal of Obstetrics & Gynecology and Reproductive Biology
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
