title: Total anomalous pulmonary venous connection: impact of prenatal diagnosis.
abstract: OBJECTIVE
  To investigate whether prenatal screening is effective in the detection of total anomalous pulmonary venous connection (TAPVC) and to identify common prenatal features.
  
  
  METHODS
  This was a retrospective collaborative study involving 19 pediatric cardiac centers in the UK, Ireland and Sweden. Cases with TAPVC born between January 1, 1998 and December 31, 2004, and prenatally diagnosed cases whose estimated dates of delivery were within this time frame, were identified. Cases with functionally univentricular circulation or atrial isomerism were excluded. All available data and stored images were reviewed.
  
  
  RESULTS
  Four-hundred and twenty-four cases with TAPVC were identified prenatally or postnatally, of whom eight (1.9%) had a prenatal diagnosis of TAPVC. Median gestational age at fetal diagnosis was 26 + 6 (range, 22 + 4 to 32 + 0) weeks. Six further fetuses with TAPVC had an abnormality diagnosed on prenatal ultrasound, but not the TAPVC. This included other congenital heart defects (four cases) and isolated pleural effusion (two cases). Seventeen (4.0%) of the 422 liveborn infants had a first-degree relative with congenital heart disease; and six of 17 had a sibling with TAPVC. Two died in utero. Of the liveborn infants diagnosed prenatally with TAPVC, none required urgent intervention for pulmonary venous obstruction and all were alive and well at a median of 2.3 (range, 1.0-7.0) years after surgical repair.
  
  
  CONCLUSIONS
  Prenatal diagnosis of TAPVC is infrequent using current screening methods. Where there is a family history of TAPVC, specialized fetal echocardiography at 20 and 28 weeks' gestation may be indicated.
authors.affiliation: Royal Brompton Hospital, London, UK.
authors.forename: A N
authors.initials: AN
authors.lastname: Seale
authors.forename: J S
authors.initials: JS
authors.lastname: Carvalho
authors.forename: H M
authors.initials: HM
authors.lastname: Gardiner
authors.forename: M
authors.initials: M
authors.lastname: Mellander
authors.forename: M
authors.initials: M
authors.lastname: Roughton
authors.forename: J
authors.initials: J
authors.lastname: Simpson
authors.forename: A
authors.initials: A
authors.lastname: Tometzki
authors.forename: O
authors.initials: O
authors.lastname: Uzun
authors.forename: S A
authors.initials: SA
authors.lastname: Webber
authors.forename: P E F
authors.initials: PE
authors.lastname: Daubeney
mesh_terms: D004452:Echocardiography / Q000379:methods*; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D007494:Ireland; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D012587:Scimitar Syndrome / Q000000981:diagnostic imaging* / Q000453:epidemiology; D013548:Sweden; D006113:United Kingdom