title: Prenatal 2-dimensional and 3-dimensional ultrasonography diagnosis and autoptic findings of isolated ectopia cordis.
abstract: Ectopia cordis is a very rare congenital malformation, commonly associated with intracardiac anomalies. It is due to a defect in fusion of the anterior chest wall resulting in an extrathoracic location of the heart. We report prenatal 2-dimensional (2D) and 3D ultrasonography diagnosis and postnatal autoptic findings of an isolated ectopia cordis with tricuspid atresia. Ectopia cordis prenatal diagnosis is easily made with ultrasound by visualizing the heart outside the thoracic cavity. 3D ultrasonography may add more detailed visualization of the heart anomaly even if the 2D ultrasonography alone permits the prenatal diagnosis. Obstetrical management should include a careful search for associated anomalies, especially cardiac, and the assessment of fetal karyotype. As this is considered a sporadic anomaly, the recurrence risk is low and no genetic origin is known.
authors.affiliation: Centro di Consulenza Genetica e di Teratologia della Riproduzione, Catania, Italy. sebastiano.bianca@tiscali.it
authors.forename: S
authors.initials: S
authors.lastname: Bianca
authors.forename: G
authors.initials: G
authors.lastname: Bartoloni
authors.forename: S
authors.initials: S
authors.lastname: Auditore
authors.forename: A
authors.initials: A
authors.lastname: Reale
authors.forename: C
authors.initials: C
authors.lastname: Tetto
authors.forename: C
authors.initials: C
authors.lastname: Ingegnosi
authors.forename: B
authors.initials: B
authors.lastname: Pirruccello
authors.forename: G
authors.initials: G
authors.lastname: Ettore
mesh_terms: D000328:Adult; D001344:Autopsy; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000473:pathology; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D021621:Imaging, Three-Dimensional; D011247:Pregnancy; D018785:Tricuspid Atresia / Q000000981:diagnostic imaging / Q000473:pathology; D016216:Ultrasonography, Prenatal / Q000379:methods