OP17.10: Prognostic value of prenatal diagnosis of conotruncal anomalies

Abstract

Conotruncal anomalies (CTA) are complex but surgically correctable with good outcome, 90% have duct dependent circulation at birth and all can be diagnosed by mid gestation fetal cardiac ultrasound (FCUS). Advantage of prenatal diagnosis (PD) has been univocally shown only for transposition of the great arteries (TGA), diagnosis > 72 hours being associated with significant morbidity and mortality. All fetuses affected by CTA diagnosed by FCUS between Jan 2005 and July 2008 were assessed by complete obstetric US. Karyotype and del 22q11.2 analysis was obtained either pre or postnatally. Confirmation was obtained after birth by US or at autopsy in case of termination of pregnancy (TOP) or intrauterine death (IUD). Besides outcome of all CTA with PD, we compared outcome of cases of isolated CTA (ICTA) with and without PD. 49 fetuses (Group 1) were diagnosed as CTA. Gestational age (GA) at diagnosis was 23.7 + 6.5 weeks (range 15–37). 11 neonates (group 2) presented de novo with CTA. In group 1 diagnoses were: Fallot's tetralogy (TF) 17 (35%) TGA 15 (31%) double outlet right ventricle (DORV) 8 (16%)Truncus arteriosus (TA) 5 (10%) Interrupted aortic arch type B (IAAB) 2 (4%), pulmonary atresia VSD (PAVSD) 2 (4%). CTA was isolated in 19 (39%) Major extra cardiac anomalies were present in 28 (57%), 7 (15%) had increased nuchal translucency and 5 (11%) IUGR. Genetic abnormalities were present in 21 (43%): 14 (28.5%) had ChrA, 5 (10%) del 22q11.2, 1 had both and 1 was a CHARGE association. Group 2: 8 (73%) had TF, 2 (18%) TGA, 1 (9%) APVSD, none had abnormal chromosomes, 1 del 22q11.2. 3 had minor skeletal (1) and renal (2) associated anomalies. PD of CTA is associated with poor outcome because of associated problems and severity of CTA compared with cases presenting after birth.