title: Partial atrioventricular septal defect in the fetus: diagnostic features and associations in a multicenter series of 30 cases.
abstract: OBJECTIVE
  To assess the anatomical features and the associations of partial atrioventricular septal defect (pAVSD) in the fetus.
  
  
  METHODS
  This was a retrospective multicenter study of 30 cases of confirmed pAVSD seen since 1996 at two referral centers. The following variables were available for analysis in all cases: indications for fetal echocardiography, diagnostic features, associated cardiac, extracardiac and chromosomal anomalies and fetoneonatal outcome. At fetal echocardiography, the echocardiographic features deemed indicative of pAVSD were: 1) ostium primum atrial septal defect and 2) loss of the normal offset appearance of the atrioventricular valves.
  
  
  RESULTS
  Eighteen of the 30 (60%) cases were diagnosed before 24 weeks of gestation and 12 were diagnosed later. Suspicion of congenital heart disease and known aneuploidy (trisomy 21) accounted for 60% of the referral indications. The two anatomical landmarks deemed indicative of pAVSD were detected in all cases at echocardiography. Twelve cases were isolated (one with increased nuchal transluceny at the 12-week scan, one with polyhydramnios, one with fetal growth restriction) including four that were detected on routine ultrasound examination by the authors. Additional cardiac anomalies were present in five (17%) cases, four of which involved aortic coarctation. There were associated chromosomal anomalies in 13 (43%); however, excluding the six cases referred because of known Down syndrome, the adjusted association rate with aneuploidy was 29.2% (7/24). Extracardiac anomalies, including non-chromosomal syndromes, were present in 10 cases (33.3%). Regarding fetoneonatal outcome, there were 13 terminations of pregnancy, one early neonatal death and 16 survivors, including four with mild to severe neurodevelopmental delay due to associated syndromic conditions.
  
  
  CONCLUSIONS
  We describe the key echocardiographic features of pAVSD in the fetus. In addition, we have confirmed that the association with trisomy 21 holds also for pAVSD, though to a lesser extent, with a 12.5% association rate in this series. In the fetus, pAVSD seems to be associated with a high rate of chromosomal/non-chromosomal syndromic conditions, including skeletal dysplasias. Inutero, aortic coarctation represents the most frequently associated cardiac lesion (13.3%).
authors.affiliation: Fetal Cardiology Unit, Department of Gynecology and Obstetrics, University Federico II of Naples, Naples, Italy. paladini@unina.it
authors.forename: D
authors.initials: D
authors.lastname: Paladini
authors.forename: P
authors.initials: P
authors.lastname: Volpe
authors.forename: G
authors.initials: G
authors.lastname: Sglavo
authors.forename: M G
authors.initials: MG
authors.lastname: Russo
authors.forename: V
authors.initials: V
authors.lastname: De Robertis
authors.forename: I
authors.initials: I
authors.lastname: Penner
authors.forename: C
authors.initials: C
authors.lastname: Nappi
mesh_terms: D025063:Chromosome Disorders / Q000000981:diagnostic imaging* / Q000235:genetics; D004452:Echocardiography; D005260:Female; D005318:Fetal Heart / Q000002:abnormalities / Q000000981:diagnostic imaging*; D005865:Gestational Age; D006344:Heart Septal Defects, Atrial / Q000000981:diagnostic imaging* / Q000235:genetics; D006349:Heart Valve Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal