Prenatal diagnosis of isolated total anomalous pulmonary venous connection: a series of 10 cases

Abstract

To report on a series of 10 fetuses with prenatally diagnosed isolated total anomalous pulmonary venous connection (TAPVC), focusing on echocardiographic features leading to diagnosis, assess accuracy of prenatal diagnosis and describe postnatal outcome. In this review of our experience of prenatal diagnosis of isolated TAPVC, we analyzed retrospectively medical records and fetal echocardiography findings in all cases with prenatal diagnosis of isolated TAPVC delivered between 1 January 2001 and 1 October 2011 at a tertiary referral center, paying special attention to echocardiographic signs that led to referral. During the study period, 95 infants with isolated TAPVC were seen at the center. Initially, expert fetal echocardiography identified 14 fetuses with isolated TAPVC. Prenatal diagnosis was made at a mean gestational age of 31 (range, 25-37) weeks. Ten true-positive cases of TAPVC were confirmed after birth. The remaining four were considered false-positive cases: two had normal heart with left superior vena cava to coronary sinus, one had partial anomalous venous connection and one was lost to follow-up. Of the 85 diagnosed postnatally with TAPVC, only one had been seen prenatally by an expert cardiac sonographer. Echocardiographic signs leading to referral were related to pulmonary venous connection in half of the cases. Other suspected defects which led to referral were ostium prium atrial defect (n = 3), left-right asymmetry (n = 1), abnormal mitral valve (n = 1) and hepatic vascular malformation (n = 1). All infants with TAPVC underwent surgery. There was one postoperative death and nine survivors, with a mean follow-up of 31 (range, 2-104) months. Fetal diagnosis of isolated TAPVC is challenging even for experts. Echocardiographic anomalies may appear late in gestation. New tools should be proposed to identify abnormal venous drainage at the screening level.