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Prenatal diagnosis of tuberous sclerosis: The use of fetal echocardiography
Author(s) -
Platt Lawrence D.,
Devore Greggory R.,
Horenstein Janet,
Pavlova Zdena,
Kovacs Bruce,
Falk Rena Ellen
Publication year - 1987
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970070606
Subject(s) - tuberous sclerosis , medicine , fetus , prenatal diagnosis , rhabdomyoma , pregnancy , fetal echocardiography , obstetrics , prenatal ultrasound , family history , ultrasound , radiology , genetics , biology
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.