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Prenatal diagnosis of tuberous sclerosis: The use of fetal echocardiography |
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| Authors: | Lawrence D. Platt M.D. Greggory R. Devore Janet Horenstein Zdena Pavlova Bruce Kovacs Rena Ellen Falk |
| Affiliation: | 1. Departments of Obstetrics and Gynecology, University of Southern California. School of Medicine and Women's Hospital, Los Angeles County/USC Medical Center, Los Angeles, California, U.S.A;2. Department of Pathology University of Southern California. School of Medicine and Women's Hospital, Los Angeles County/USC Medical Center, Los Angeles, California, U.S.A;3. Department of Pediatrics, University of Southern California, School of Medicine and Women's Hospital, Los Angeles County/USC Medical Center, Los Angeles, California, U.S.A Department of Pediatrics Children's Hospital of Los Angeles, USC School of Medicine, Los Angeles, U.S.A |
| Abstract: | Fetal echocardiography was used to identify a cardiac rhabdomyoma in the second trimester. The combination of this finding with a maternal history of Tuberous Sclerosis allowed the patient and her family to make a more educated decision regarding termination of the pregnancy. Post mortem examination of the fetus confirmed the prenatal findings. This case report demonstrates the importance of ultrasound evaluation of the fetus at risk of recurrence of a genetic syndrome in which one or more anatomical defects might be seen. |
| Keywords: | Tuberous sclerosis Rhabdomyorna Fetal echocardiography Prenatal diagnosis |