Truncus arteriosus: diagnostic accuracy, outcomes, and impact of prenatal diagnosis.

Limited data exist on the impact of prenatal diagnosis and outcomes of fetal truncus arteriosus (TA). We sought to assess prenatal diagnostic accuracy and prenatal outcomes in fetuses with TA and compare postnatal outcomes in neonates with prenatally and postnatally diagnosed TA. Records were reviewed for patients diagnosed with TA in utero or at <or=60 days of life from 1992 to 2007. Forty-three (32%) of 136 TA patients had prenatal diagnosis. Five patients with TA were prenatally misdiagnosed, and 5 with other congenital heart diseases were misdiagnosed with TA prenatally. Of 28 fetuses diagnosed at <24 weeks gestation, 19 (68%) did not survive to birth because of spontaneous fetal death (n = 2) or because of elective termination (n = 17). Pregnancy termination was not more likely for fetuses with extracardiac anomalies. Of 19 live-born patients with correct prenatal diagnosis of TA, 2 (11%) died before surgery, and 4 (24%) died in the early postoperative period. All patients who died presurgically had been diagnosed prenatally. Overall, early postoperative mortality was 10%. Prenatal diagnosis of TA remains challenging and is associated with a high rate of elective termination. Fetal diagnosis was associated with younger age at repair but was not associated with improved neonatal survival.