Abstract 17720: Perinatal Outcomes and Current Status after Prenatal Diagnosis of Heterotaxy Syndrome
Heterotaxy syndrome (HS) has a wide spectrum of cardiac defects and outcomes. Prenatal diagnosis (Dx) impacts perinatal outcome and management. The aim of this study was to describe the current status of patients diagnosed prenatally with HS, and to identify risk factors for non-survival. We included fetuses with a Dx of HS from 1995 to 2011. We collected data on gestational age in weeks (WGA) at Dx, cardiac anomaly, heart block (CHB), extracardiac anomalies, pregnancy outcome, surgery, current survival and circulation. Of the 154 fetuses, 61 (40%) were categorized as asplenia syndrome patients (ASP) and 93 (60%) as polysplenia syndrome patients (PSP). Mean WGA at Dx was 24.5 +/-6.3. Complex cardiac anomalies were more frequent in ASP than PSP (98% vs 58% p<0.0001). Bradycardia or CHB was exclusive to PSP (18/93). Extracardiac anomalies were present in 45%. In ASP, 24/36 Dx <24w elected for termination of pregnancy (TOP), 3 fetuses died from non-cardiac lesions, and 34 (56%) were live born, whereas in PSP, 11/61 Dx <24w elected for TOP, 5 (5%) fetuses died (4 with CHB, 1 from extracardiac cause) and 77 (83%) were liveborn. In the liveborn cohort of ASP, 44% (15/34) died, 40% due to pulmonary vein stenosis, 33% due to postop complications and the remainder due to non-cardiac causes. In the liveborn cohort of PSP, there were 10/77 (13%) deaths, 5 postop, 3 born prematurely with CHB, and 2 late deaths due to extracardiac lesions. Of the current survivors, 100% of ASP have undergone cardiac surgery compared to 53% of PSP (p=0.0004). Starting with fetal Dx, 69% (64/93) of PSP are still alive, 57% (53) with a biventricular circulation. Of the ASP, 28% (17/61) are still alive, only 5% (3) with a biventricular circulation (p<0.0001). In conclusion, after fetal Dx, there were significant perinatal survival differences between fetuses with asplenia and polysplenia. Those with asplenia had higher rates of TOP as well as higher postnatal mortality. In addition the majority PSP had a biventricular circulation compared to very few ASP. CHB was a risk factor for fetal demise but did not affect postnatal outcomes. In neonatal period, the risk factors for death were related to the cardiac anomaly in both groups. Late deaths were mostly due to extracardiac causes in PSP and to pulmonary vein stenosis in ASP
- © 2012 by American Heart Association, Inc.