Objectives To determine the prevalence and clinical significance of persistent left superior vena cava (PLSVC) in fetuses with and without cardiac and extracardiac anomalies.Methods Charts and recorded images were reviewed from high‐risk patients who underwent fetal echocardiography between January 2000 and December 2005. This retrospective study included 54 fetuses with confirmed PLSVC who were diagnosed based on the presence of an additional vessel identified to the left of the pulmonary artery in the three‐vessel view of the heart. Associated congenital heart defects (CHDs), extracardiac abnormalities, including first trimester nuchal translucency (NT) thickness, and fetal/postnatal outcome were analyzed.Results Of 5737 referrals, 5233 had a normal heart, and PLSVC was observed in 10 of these fetuses (0.2%; Group 1). CHDs were present in 504 and PLSVC was observed in 44 of these cases (9%). In the latter group, 18/44 (41%) fetuses had heterotaxy syndrome (Group 2) where the most common structural heart defects were atrioventricular septal defect and double‐outlet right ventricle. Fetuses without heterotaxy syndrome (Group 3) accounted for 26/44 (59%) cases of CHDs associated with PLSVC. In this group of fetuses the most common CHDs were left outflow tract obstructive defects and conotruncal anomalies. Increased NT was observed in 29%, without differences among the three groups. The survival rates among fetuses in Groups 1, 2 and 3 were 100%, 44% and 50%, respectively. After excluding patients who underwent pregnancy termination, there were no significant differences in the survival rates among the groups, probably due to the small size of the samples.Conclusions PLSVC is associated with CHDs. The identification of PLSVC should prompt a thorough examination of the fetus to identify additional cardiac and extracardiac anomalies. The prognosis of affected fetuses largely depends on whether or not the PLSVC is associated with a CHD. Copyright © 2007 ISUOG. Published by John Wiley & Sons, Ltd.

Outcome of fetuses with critical pulmonary stenosis (critical PS) or atresia of the pulmonary valve (PA) with intact ventricular septum (IVS) is closely related with right ventricle hypoplasia and its consequent hemodynamics. Fetal echocardiography not only allows early detection of this condition but also monitors its normally unfavorable evolution. These cases may benefit from intrauterine intervention relieving outflow tract obstruction in order to achieve a biventricular circulation. Successful valvuloplasty of the pulmonary valve was performed in a fetus with critical PS-IVS and heart failure at 25 weeks. After the procedure there was a significant improvement in fetal hemodynamics. Follow-up scans at 34 weeks detected a significant restenosis with signs of circulatory failure leading to premature delivery of the baby. An immediate postnatal valvuloplasty successfully completed the ultimate objective of biventricular repair. Fetal pulmonary valvuloplasty is feasible and may change the natural history of the disease in fetuses with critical PS-IVS.

Objectives: To analyze fetal echocardiographic findings of absent pulmonary valve syndrome (APVS), its association with chromosomal and extracardiac anomalies including nuchal translucency (NT) and the outcome after diagnosis.Methods: Data of 14 fetuses with confirmed APVS retrospectively collected in two tertiary referral centers between 1998 and 2004 were analyzed. The variables examined were: reason for referral, gestational age at diagnosis and associated abnormalities, including first trimester NT thickness. Cardiac evaluation included measurement of cardiothoracic ratio, diameter of pulmonary arteries and Doppler flow in the pulmonary trunk. Information was retrieved from clinical files, recorded videotapes and stored images. Karyotyping including examination for the 22q11 deletion was performed in all cases.Results: Mean gestational age at diagnosis was 28 weeks, with 5/14 (36%) diagnosed before 22 weeks. In 13/14 (93%) there was an associated ventricular septal defect (subaortic in 12 fetuses and inlet‐type in one) and all 13 had tetralogy of Fallot. Enlargement of the central pulmonary arteries and cardiomegaly were present in all cases diagnosed after 22 weeks. Of the five fetuses in which APVS was detected before 22 weeks, four (80%) had a normal pulmonary trunk diameter, two (40%) had normal pulmonary branches and three (60%) had normal cardiac size. The arterial duct was absent in 11/14 (79%). A correlation between presence of the arterial duct and the size of the central pulmonary arteries or cardiomegaly could not be established. Increased NT was observed in 4/10 cases (40%) for which this information was available. 22q11 microdeletion was diagnosed in three fetuses (21%). There were five terminations of pregnancy, one intrauterine death, five neonatal deaths and one infant death. Of the six neonates with respiratory distress, only one (17%) survived and of the eight babies in whom there was an intention to treat, two survived (25%).Conclusions: APVS can be accurately diagnosed by fetal echocardiography but screening ultrasound in the mid‐second trimester is likely to have a low detection rate, probably due to the incomplete expression of the disease at this point. Many fetuses with APVS have an increased NT in the first trimester and this may help an earlier recognition of the defect. The most common associated karyotype anomaly is 22q11 microdeletion. Enlargement of the central pulmonary arteries is mainly related to the gestational age at diagnosis. Our results confirm that the outlook for these patients is extremely poor. Copyright © 2006 ISUOG. Published by John Wiley & Sons, Ltd.