P498Total anomalous pulmonary venous connection: impact of prenatal diagnosis in a population-based study


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Abstract

Objective: To investigate whether prenatal screening is effective at detecting total anomalous pulmonary venous connection (TAPVC) and to identify common prenatal features.Methods: Retrospective collaborative population-based study involving 19 paediatric cardiac centres in the United Kingdom, Ireland and Sweden. Cases of TAPVC born between 1/1/1998-31/12/2004, and prenatally diagnosed cases whose estimated dates of delivery were within this timeframe were identified. Cases with functionally univentricular circulation or atrial isomerism were excluded. All available data and imaging were reviewed.Results: There were 424 cases of TAPVC identified in the 3 countries; 331 cases were from England and Wales where a fetal abnormality screening programme was established. A fetal abnormality was found in 14 cases with all coming from England and Wales except one case with an isolated pleural effusion.A cardiac abnormality was detected in 12/14, the remaining 2 had an isolated pleural effusion which was diagnosed without suspicion of congenital heart disease. TAPVC was diagnosed in 8 of the 12 where a cardiac abnormality was detected prenatally; an associated heart defect was diagnosed in 4/12 but not TAPVC. Hence only 8/331(2.4%) cases born in England and Wales with TAPVC had a prenatal diagnosis of TAPVC. Median gestational age at prenatal diagnosis of TAPVC was 26weeks + 6days (range 22weeks + 4days to 32weeks + 0days). There were more supracardiac(5) and cardiac(2) cases diagnosed prenatally than infracardiac(1), no cases of mixed TAPVC were diagnosed prenatally. Disproportion at great vessel and ventricular level was not always present and tended to occur in the latter part of pregnancy. The four-chamber view often appeared normal, although a dilated coronary sinus was seen in TAPVC to the coronary sinus. In supracardiac TAPVC an ascending vein was seen on the three-vessel and tracheal view joining a dilated left brachiocephalic vein.Two of the 8 with prenatal diagnosis of TAPVC died in-utero. Of the 6 liveborn, none required urgent intervention for pulmonary venous obstruction and all are alive and well 2.3 years (range 1.0–7.0years) after surgical repair.Seventeen of the 422 liveborn (4.0%) had a first degree relative with congenital heart disease; 6/17 had a sibling(s) with TAPVC.Conclusions: Prenatal diagnosis of TAPVC is infrequent using current screening methods. Where there is a family history of TAPVC, specialised fetal echocardiography at 20 and 28 weeks' gestation is recommended.

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