Echocardiographic Features and Outcome of Truncus Arteriosus Diagnosed During Fetal Life Christopher Duke, MRCP, Gurleen K. Sharland, MD, Annette M.R. Jones, DCR, DMU, and John M. Simpson, MD There are few data on the outcome of truncus arteriosus when this diagnosis is made during fetal life. Such prog- nostic information is important to assist parental coun- seling during pregnancy. This study aimed to analyze, retrospectively, the echocardiographic features and out- come of fetuses with truncus arteriosus. A database of those presenting to a tertiary center for fetal cardiology between 1990 and 1999 was reviewed. Cases in which truncus arteriosus was identified as a firm or differential diagnosis were selected. Outcome data were derived from clinical records, and fetal echocardiograms were reviewed retrospectively. At presentation, truncus arte- riosus was firmly diagnosed in 16 patients and was a differential diagnosis in 12. Fourteen of 16 (87%) of the firm diagnoses were correct. There were 17 confirmed cases of truncus arteriosus. Pregnancy was terminated in 4 patients (24%) and there were 13 live births. One child was not actively treated, 4 (31%) died preopera- tively, and 8 (61%) underwent surgery. Thirty-day sur- gical mortality was 2 of 8 (25%). There was 1 late death after cardiac catheterization, and overall survival on an intention-to-treat basis was 5 of 12 (42%). Five of 6 patients with a prenatal truncal valve Doppler velocity above the normal aortic range were found to have postnatal truncal valve stenosis. Two fetuses with ste- notic valves died preoperatively with sudden cardiovas- cular collapse. Counseling of parents for fetuses with truncus arteriosus should include the relatively high non- surgical mortality as well as surgical results. Elevated prenatal truncal valve Doppler velocity predicts postna- tal truncal valve stenosis. Fetuses with truncal valve stenosis may be at risk of early sudden death. 2001 by Excerpta Medica, Inc. (Am J Cardiol 2001;88:1379 –1384) T runcus arteriosus may be diagnosed during fetal life although most patients are not detected before birth. 1 There is little published information on the accuracy of prenatal diagnosis of this cardiac lesion. 2,3 The outlook for children with truncus arteriosus has improved with advances in surgical technique. 4–8 Studies focusing on the results of surgery have dom- inated current views on prognosis. There are no data on the natural history of the condition following fetal diagnosis. The aim of this study was to assess the accuracy of prenatal diagnosis and to provide information on out- come, and to assist counseling in pregnancy. Postna- tally, truncal valve regurgitation has been shown to be an adverse prognostic factor. 9 We therefore docu- mented echocardiographic features of the truncal valve prenatally and sought to determine whether they predicted outcome. METHODS Subjects: Cases were selected from patients referred to a tertiary center for fetal cardiology between Janu- ary 1990 and December 1999. Cases were ascertained using the prospective computerized database at the unit (Filemaker Pro Versions 2 to 4, Claris Corpora- tion, Santa Clara, California). During this 10-year period, 12,710 fetuses were investigated by fetal echo- cardiography and 1,881 fetuses were found to have congenital heart disease. In 28 cases, truncus arterio- sus was entered prospectively on the database either as a firm diagnosis at presentation (n = 16) or as part of a differential diagnosis (n = 12). These 28 cases formed the study population for the purposes of de- termining diagnostic accuracy: 18 were scanned be- tween 1990 and 1994 and 10 between 1995 and 1999. We defined a “confirmed” case of truncus arteriosus as one in which the diagnosis was proved postnatally or at necropsy. Truncus arteriosus was confirmed in 17 cases, 0.9% of all congenital heart defects diagnosed prenatally during the study period. These 17 fetuses formed the study population used to derive outcome data. In cases in which truncus arteriosus was con- firmed, the fetal echocardiogram was reviewed to as- certain the characteristics of the truncal valve. Fetal echocardioraphic methods: Fetal echocardiog- raphy was performed using Toshiba SS-270A (Toshiba Medical Systems, Crawley, United King- dom) and Hewlett-Packard 1000, 2000, and 5500 ul- trasound systems (Andover, Massachusetts) with 8-, 5-, and 3.5-MHz probes as appropriate for the gesta- tional age. The videotapes were analyzed retrospec- tively by a single observer (JMS) using the Hewlett- Packard 5500 system. In 5 of 38 echocardiographic examinations, the videotape was not available for analysis. In these cases, written records made at the time of the study were used to derive data where From the Department of Fetal Cardiology, Guy’s Hospital, London, United Kingdom. Manuscript received May 4, 2001; revised manu- script received and accepted August 9, 2001. Address for reprints: John Simpson, MD, Department of Congenital Heart Disease, 11th Floor, Guy’s Tower, Guy’s Hospital, London SE1 9RT, United Kingdom. E-mail: John.Simpson@gstt.sthames.nhs.uk. 1379 ©2001 by Excerpta Medica, Inc. All rights reserved. 0002-9149/01/$–see front matter The American Journal of Cardiology Vol. 88 December 15, 2001 PII S0002-9149(01)02117-8