Truncus Arteriosus: Diagnostic Accuracy, Outcomes, and Impact of Prenatal Diagnosis

Abstract

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 ≤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.

Prenatal diagnosis of the fetal common arterial trunk. A case series

“…Prenatal diagnosis of CAT remains challenging and is associated with a high rate of therapeutic elective termination [7]. Similarly, 8 out of the 17 pregnancies included in our study, were terminated through a therapeutic abortion, and probably those lost from our evidence reached the same course or died after birth.…”

“…According to a review which assessed the post-surgical evolution of CAT performed within the first months of life, only 28 out of 48 alive newborns with CAT survived [4], underlining that the diagnosis of CAT carries only approximately 50% survival chances. Another study pointed out a survival rate much lower, GA -gestational age (weeks); CAT -Common arterial trunk; *type 2 or 3 could not be correctly diagnosed in utero only 10% after surgical procedure for CAT [7]. The same study stated that even though the prenatal diagnosis led to a surgical repair at a younger age, the neonatal survival rate remained constant [7].…”

“…Thus, the study of Swanson et al underlines a low rate of antenatal diagnostic of CAT, of only 32% out of the total number of patients diagnosed after birth with CAT [7]. The most common cardiac abnormalities misdiagnosed by both the fetal specialist imaging and pediatric cardiologist included pulmonary stenosis, VSD, myxoma, truncus arteriosus, and coarctation of the aorta [8].…”

“…Another study pointed out a survival rate much lower, GA -gestational age (weeks); CAT -Common arterial trunk; *type 2 or 3 could not be correctly diagnosed in utero only 10% after surgical procedure for CAT [7]. The same study stated that even though the prenatal diagnosis led to a surgical repair at a younger age, the neonatal survival rate remained constant [7]. Nevertheless, though the survival rate after surgery is relatively low, it improves further in life.…”

Prenatal Diagnosis of Common Arterial Trunk: A Single-Center's Experience

“…Several studies examining the accuracy of prenatal diagnosis of CAT have been reported (78.6-95.8%) [2,3,4,5]. Although CAT can be diagnosed with a high degree of accuracy, it is sometimes difficult to make a diagnosis when only the single great vessel is identified by fetal echocardiography.…”