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Prenatal diagnosis of tuberous sclerosis: The use of fetal echocardiography

Lawrence D. Platt, Greggory R. DeVore, Janet M. Horenstein, Zdena Pavlova, Bruce W. Kovacs, Rena Ellen Falk

Open publisher page 21 citations

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.

About this research paper

What this paper is about

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.

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OpenAlex reports 21 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Method / approach

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Available 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.

Key concepts: Tuberous sclerosis, Medicine, Fetus, Prenatal diagnosis, Rhabdomyoma, Pregnancy, Fetal echocardiography, Obstetrics

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