Predictors of repair and outcome in prenatally diagnosed atrioventricular septal defects.

BACKGROUND: Atrioventricular septal defect (AVSD) is a common prenatal diagnosis with great heterogeneity. Few data guide counseling about outcomes and types of repair. The aim of this study was to describe predictors of survival and repair type in prenatally diagnosed atrioventricular septal defect. METHODS: A retrospective review of fetuses diagnosed with AVSD was conducted. RESULTS: Of 106 fetuses with AVSDs, outcome data were available in 88, 66 with situs solitus and 22 with heterotaxy. Overall mortality was 52%, with 66% surviving to birth, 58% to 1 month, and 47% to 1 year. There was increased mortality in patients with heterotaxy (P = .02). In patients with situs solitus, there was increased mortality in those with unbalanced AVSDs (P < .01). The presence of a chromosomal abnormality did not affect mortality (P = .34). In pregnancies with intent to continue (n = 60), 97% of patients survived to birth, 86% to 1 month, and 69% to 1 year. The presence of heterotaxy (P < .01) or other complex intracardiac disease (P < .01) was associated with single-ventricle repair. In patients with unbalanced AVSDs who underwent surgery, two-ventricle repair was uncommon (29%), but it was performed more often in those with restrictive ventricular septal defects (71%). In the 16 patients with unbalanced AVSDs who underwent multiple studies, 12 showed no change in left atrioventricular valve/right atrioventricular valve ratio from first to the final fetal echocardiographic study; in three patients, this ratio worsened, and in one patient, it improved. CONCLUSIONS: Prenatal diagnosis of AVSD should prompt assessment for chromosomal abnormalities, additional cardiac anomalies, and heterotaxy syndrome. Heterotaxy, unbalanced AVSD, and the need for single-ventricle repair are associated with a poor prognosis. Left atrioventricular valve/right atrioventricular valve ratio early in gestation does not always predict this ratio at delivery.

Specialized delivery room planning for fetuses with critical congenital heart disease.

Improvements in fetal echocardiography have increased recognition of fetuses with congenital heart disease (CHD) that require specialized delivery room (DR) care. In this study, care protocols for these low-volume and high-risk deliveries were created. Elements included (1) diagnosis-specific DR care plans and algorithms, (2) a multidisciplinary team with expertise, (3) simulation, (4) checklists, and (5) debriefing. The purpose of this study was to assess the accuracy of fetal echocardiography to predict the need for specialized DR care and determine the effectiveness of the care protocols for the treatment of patients with critical CHD. Fetal and postnatal medical records and echocardiograms of fetuses with CHD assigned to an advanced level of care were reviewed. Safety and outcome variables were analyzed to determine care plan and algorithm efficacy. Thirty-four fetuses were identified: 12 delivered at Children's National Medical Center and 22 at the adult hospital. Diagnoses included hypoplastic left heart syndrome, aortic stenosis, d-transposition of the great arteries, tetralogy of Fallot with absent pulmonary valve, complex pulmonary atresia, arrhythmias, ectopia cordis, and conjoined twins. Delivery at Children's National Medical Center was associated with a shorter time to specialty care or intervention. Measures of physiologic stability and survival were similar. Need for specialized care was predicted in 84% of deliveries. For hypoplastic left heart syndrome, intervention was predicted in 10 of 11 deliveries and for d-transposition of the great arteries in 10 of 12 deliveries. Care algorithms addressed most DR events. Of the unanticipated events, none were unrecoverable. DR survival was 100%, and survival to discharge was 83%. In conclusion, fetal echocardiography predicted the need for specialized DR care in fetuses with critical CHD. Algorithm-driven protocols enable planning such that maternal and infant risk is minimized and outcomes are good.